Medical Genetics Department

Team

 

prof bal

Acting Head of Medical Genetics Department
Jerzy Bal Prof. PhD.
tel. 22 32 77 361
tel./fax 22 32 77 200
sekretariat.genetyki@imid.med.pl, jerzy.bal@imid.med.pl
Lipsk Building, 3rd Floor.

 

Academic CV (More)

 

ACADEMIC DEGREES:

  • MSc, 1973, University of Warsaw, Master's thesis entitled ‘Methods of selection of auxotrophic mutants in Aspergillus nidulans using N-glycosyl-polifungin'.
  • PhD, 1978, University of Warsaw, PhD thesis entitled ‘Supersupressors in Aspergillus nidulans'.
  • Habilitated doctor (Polish: dr hab.), 1992, Institute of Biochemistry and Biophysics of the Polish Academy of Sciences, Warsaw 1992, thesis entitled ‘Molecular research in cystic fibrosis. Characteristics of CF gene mutation prevalence in Polish population'.
  • Prof., 2000, President of the Republic of Poland, Institute of Mother and Child

TRAINING:

  • 1985: A monthly research stay at the MRC Laboratory of Molecular Biology, Postgraduate Medical School, Cambridge, UK, devoted to studies on the genetics of Caenorhabditis elegans.
  • 1989–1990: 14-month research stay within the Alexander von Humboldt Scholarship programme at the Human Genetic Institute, University of Gottingen, devoted to molecular studies on human congenital diseases.

PROFESSIONAL EXPERIENCE:

  • 1973–1980 University of Warsaw, Department of Genetics
  • 1981–1985 Academy of Medicine, Department of Pharmaceutical Microbiology
  • from 1986 until now the Institute of Mother and Child, Medical Genetics Department

MEMBERSHIP IN SCIENTIFIC SOCIETIES:

  • Polish Biochemical Society
  • Polish Genetics Society
  • Polish Society of Human Genetics
  • European Society of Human Genetics

AWARDS:

  • Award of the Scientific Secretary of the Polish Academy of Sciences, Warsaw 1974
  • Second degree team award granted by the Rector of the University of Warsaw, Warsaw 1978
  • First degree award granted by the Polish Genetics Society, Warsaw 1980
  • First degree team award granted by the Rector of the University of Warsaw, Warsaw 1980
  • Second degree team award granted by the Ministry of Health and Social Welfare, Warsaw 1989
  • B. Skarzyński Prize granted by the Polish Biochemical Society, Warsaw 1992
  • Team award granted by the Polish Society, Warsaw 1995
  • Team award granted by the Minister of Health and Social Welfare, Warsaw 1997
  • First degree award granted by the Polish Genetics Society, Warsaw 1999
  • Team award granted by the Ministry of Health, Warsaw 2000

PhD SUPERVISOR OF THE FOLLOWING PhD THESES:

  • Żekanowski C (1996) Charakterystyka mutacji powodujących fenyloketonurię oraz łagodne postaci hiperfenyloalaninemii. University of Warsaw. [Characteristics of mutations that cause phenylketonuria and mild forms of hyperphenylalaninemia]
  • Szpecht-Potocka A (1998) Rodzicielskie piętno genomowe (genomic imprinting) w badaniach molekularnych Zespołu Pradera-Williego. University of Warsaw. [Genomic imprinting in molecular studies on Prader-Willi syndrome]
  • Wiszniewski W (2002) Badania molekularne w rodzinach obciążonych deficytem ekspresji kompleksu MHC II. Charakterystyka mutacji w genie RFXANK. University of Warsaw [Molecular studies on families with major histocompatibility complex (MHC) Class II deficiency. Characteristics of mutations in the RFXANK gene]
  • Jurkowska M. (2004) Ostra białaczka limfoblastyczna (ALL) u dzieci. Badania molekularne markerów komórek nowotworowych i ocena ich przydatności
    w diagnostyce i jej rokowaniu. Warsaw Academy of Medicine. [Acute lymphoblastic leukemia (ALL) in children. Molecular studies on tumour markers and assessment of their diagnostic and prognostic usefulness]
  • Norek A (2006) Zmiany w układzie kostno-stawowym a ryzyko wystąpienia osteoporozy u dzieci z mukowiscydoza. Genetyczne markery zmienności fenotypowej. Lodz University of Technology [Changes in the osteoarticular system and the risk of osteoporosis in children with cystic fibrosis. Genetic markers of phenotypic diversity]
  • Czerska K (2009) Genetyczne modyfikatory obrazu klinicznego mukowiscydozy. Próba korelacji markerów molekularnych z fenotypem choroby. Medical University of Warsaw [Genetic modifiers of cystic fibrosis clinical presentation. An attempt at correlating molecular markers with the disease phenotype]
  • Bąk D (2010) Znaczenie domeny poliprolinowej huntingtyny dla oddziaływania z innymi białkami. Implikacje dla patogenezy choroby Huntingtona. Medical Research Centre of the Polish Academy of Sciences [Role of the polyproline region in huntingtin for interactions with other proteins. Implications for Huntington's Disease Pathogenesis]
  • Wertheim-Tysarowska K. (2013) Podłoże molekularne dziedzicznych postaci epidermolisis bullosa. Próba korelacji genotyp-fenotyp. Medical University of Warsaw [Molecular basis of congenital forms of epidermolysis bullosa. An attempt at correlating genotype with phenotype]
ewa obersztyn Deputy Medical Director
Director of Medical Counselling Clinic

Ewa Obersztyn MD, PhD.
tel. 22 32 77 361
sekretariat.genetyki@imid.med.pl, ewa.obersztyn@imid.med.pl
Lipsk Building, 3rd Floor.

 

Academic CV (More)

SPECIALTIES AND ACADEMIC DEGREES:

  • M.D. – Faculty of Medicine at the Warsaw Academy of Medicine – 1979
  • Specialisation in paediatrics – 1989
  • M.D., PhD – the Scientific Council of the Institute of Mother and Child – 1996
  • Specialisation in clinical genetics – 2003

TRAINING:

  • Polish-British genetics seminar in Radziejowice (1987) and Kazimierz n/Wisłą (1991)
  • 2nd European School of Medical Genetics in Sestri Levante (Italy) – training in clinical genetics – 1989.
  • Eight European Meeting on Dysmorphology, Strasbourg – training in dysmorphology – 1997
  • National courses in clinical genetics and cytogenetics 1996–2011

EMPLOYMENT:

  • 1979–1981 – PhD programme, Paediatrics and Metabolic Disease Clinic, Institute of Mother and Child, Warsaw
  • 1981 – Assistant lecturer, senior assistant lecturer, assistant professor, director of Genetic Counselling and Family Research Clinic, Medical Genetics Department, Institute of Mother and Child, Warsaw
  • 2011 – assistant professor, deputy director of Medical Genetics Department responsible for clinical issues, Director of Genetic Counselling Clinic (Laboratory of Family Research and Genetic Counselling)

MEMBERSHIP IN SCIENTIFIC SOCIETIES AND OTHER ORGANISATIONS:

  • Polish Paediatric Society
  • Polish Genetics Society
  • Polish Society of Human Genetics
  • Polish SocietyforPathogenesisand Therapyof Obesity
  • Polish Cystic Fibrosis Working Group
  • Commission of Congenital Developmental Disorders, Committee on Human Development of the Polish Academy of Science
  • Polish Prader-Willi Syndrome Association
  • International Prader-Willi Syndrome Association (IPWSA)

AWARDS AND HONORABLE MENTIONS:

  • 3 team awards granted by the Minister of Health and Social Welfare for extraordinary achievements in healthcare received in 1989, 1997 and 2000
  • Award granted by the management board of the Polish Paediatric Society for the best paper on genetics presented at the 24th National Congress of the Polish Paediatric Society in Gdańsk in 1995
  • Second degree special award granted by the Director of the Institute of Mother and Child for scientific achievements and distinguished PhD thesis in 1996

PUBLICATIONS:

M.D., PhD Ewa Obersztyn's academic achievements from 1996–2010 include 64 publications (including 25 original publications in scientific journals listed on the ISI Master Journal List). Co-author of a chapter in a manual published by Media Press and translator of chapters from two English medical genetics manuals. Co-author of 4 scientific expert opinions elaborated for the Ministry of Health.

Leader of one research project of the Ministry of Health and Social Welfare, principal investigator of 4 and co-investigator of 8 research projects of the State Committee for Scientific Research

Lectures and seminars delivered on specialist courses organised by the Institute of Mother and Child, Academy of Medicine and Centre of Postgraduate Education.

OTHER PROFESSIONAL ACHIEVEMENTS:

  • M.D., PhD Ewa Obersztyn was the originator of establishment of the Polish Prader-Willi Syndrome Association. She is now a honorary member as well as a medical consultant and supervisor of the Polish Prader-Willi Syndrome Association.
  • Medical representative of the Association in the International Prader-Willi Syndrome Association (IPWSA)

SCIENTIFIC RESEARCH ACTIVITIES:

M.D., PhD Ewa Obersztyn's scientific research focuses on pre- and postnatal diagnostics of genetically determined diseases and syndromes as well as genetic counselling for families affected by genetic risk. In recent years her scientific interests have also centred on investigating the aetiology of mental retardation.

beata nowakowska Director of Cytogenetics Laboratory
Beata Nowakowska MD, PhD.
tel. 22 32 77 131
beata.nowakowska@imid.med.pl
'Namysłów' Building, 1st Floor.

 

Academic CV (More)

SPECIALTIES AND ACADEMIC DEGREES:

  • Diploma of specialist in laboratory medical genetics in 2010
  • M.D., PhD in medical biology granted by the Scientific Committee, Centre for Biostructure of the Medical University of Warsaw in 2009
  • Full-time studies at the Faculty of Biology, University of Warsaw, 1996–2001

TRAINING:

  • Baylor College of Medicine, Houston, Texas, the United States in the years 2004–2009 (altogether one and half a year)
  • European School of Genetic Medicine – 5th Course in Molecular Cytogenetics and DNA arrays, Bertinoro, Italy – 10–14 September 2003
  • Rockefeller University, New York, USA – from 1 July to 30 September 2000
  • Department of Biochemistry, University of Toronto, Canada – 1999–2000

EMPLOYMENT:

  • Institute of Mother and Child in Warsaw from 1 November 2001
  • KU Leuven, Belgium from 15 January 2010 to 30 June 2012

MEMBERSHIP IN SCIENTIFIC SOCIETIES AND OTHER ORGANISATIONS:

  • European Society of Human Genetics
  • Polish Society of Human Genetics
  • International 22q11 Deletion Syndrome Association

AWARDS AND HONORABLE MENTIONS:

Awards of the Polish Society of Human Genetics

  • Second degree award for PhD thesis
  • First degree award for the best scientific paper published in 2008

Award of the Centre for Human Genetics, KU Leuven

  • Award for a scientific paper published in 2012 – June 2012

Scholarships

  • A scholarship of the Minister of Science and Higher Education for outstanding young scientists – from December 2012 to December 2015
  • Visiting research scholarship within KOLUMB Second Edition 2010 – Foundation for Polish Science – from 01 April 2011 to 30 June 2012

Conference scholarships

  • European Society of Human Genetics in 2011
  • Foundation for Polish Science in 2011

ACADEMIC ACHIEVEMENTS

  • 30 publications (including 26 original publications in scientific journals listed on the ISI Master Journal List).
  • Co-author of 3 chapters of the book entitled ‘Prenatal Diagnostics in Practice' published by Wydawnictwo Lekarskie PZWL in 2015.
  • Participation in 9 scientific research projects (in 3 of them as a project manager).
  • Lectures and seminars on specialist courses.
  • Member of the faculty of European Advanced Postgraduate Course in Classical and Molecular Cytogenetics Nîmes, France
  • Scientific director and lecturer in conferences and workshops.

OTHER PROFESSIONAL ACHIEVEMENTS:

  • M.D., PhD Beata Nowakowska was the originator of establishment of the Support Group for Families with 22q11 Deletion Syndrome.

SCIENTIFIC RESEARCH ACTIVITIES:

M.D., PhD Beata Nowakowska's scientific research focuses on pre- and postnatal diagnostics of diseases and syndromes determined by chromosomal aberrations. Her scientific interests are centred in particular on investigating the diversity of clinical features in 22q11 Deletion syndrome.

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The Medical Genetics Department is a national reference centre for genetic counselling, testing and diagnostics of many genetically determined diseases.

The Medical Genetics Department offers complex diagnostic (including prenatal) and scientific testing based on state-of-the-art cytogenetic and molecular methods as well as medical consultation provided by experienced doctors – clinical geneticists in the genetic counselling clinic.

Our scientific research and diagnostic testing comply with global standards. The Medical Genetics Department is certified by international external quality assessment schemes for diagnostic testing (CEQA, Labquality, EMQN and CF-Network among others).

The Medical Genetics Department conducts studies on chromosomal aberrations and molecular pathology of several dozen diseases and its diagnostic offering is constantly widened. In many cases the diagnostic tests offered by the Medical Genetics Department are unique in Poland. The Medical Genetics Department was the first institution in Poland to introduce the Microarray-based Comparative Genomic Hybridisation (aCGH) method to diagnostics. Currently the test based on this technique is one of the basic diagnostic tests conducted in Poland and worldwide. Over 73000 patients have been testing in the Medical Genetics Department using this method so far.

The Medical Genetics Department implements research projects financed among others by the Ministry of Science and Higher Education (the State Committee for Scientific Research, the National Science Centre), the Foundation for Polish Science and the European Funds. Over 80 research projects have been conducted in the Medical Genetics Department so far.

Only up to 2006 the employees of the Medical Genetics Department had published over 150 papers in prestigious national and foreign journals, issued 5 monographs and prepared, at the request of the Ministry of Health, 10 expert reports on diagnostics of genetically determined diseases.

The employees of the Medical Genetics Department are members of international research consortia and numerous national and international scientific societies. They are also winners of numerous national and international awards and honourable mentions.

The Medical Genetics Department cooperates with many medical genetics centres both in Poland and abroad, among others with the prestigious research and diagnostic centre Baylor College of Medicine w Houston in the United States and KU Leuven in Belgium.

The Medical Genetics Department is a reference centre for specialist training in clinical genetics for doctors and in laboratory medical genetics for laboratory analysts recognised by the Ministry of Health. Its employees co-created the programme for specialisation in laboratory medical genetics.

The Medical Genetics Department offers student internships and courses as well as individual training human genetics, cytogenetics and molecular biology.

The department has state-of-the-art testing and laboratory equipment (among others ABI capillary sequencer, MiSeq next-generation sequencing system, microarray scanners, real-time PCR system, Fluoview microscope system with intravital microscope testing module, fluorescence microscopes and computer-assisted karyotyping system coupled with microscopes as well as laminar flow cabinets and CO2 incubators to grow and maintain cell cultures).

Organisational structure:

  • Genetic Counselling Clinic Team
  • Cytogenetics Laboratory Team
  • Molecular Genetics Laboratory Team

Currently there are 41 employees, including: 1 full professor, 2 associate professors, 18 PhD in medical and natural sciences, 18 MSc in biology, 1 technician, 1 nurse and 3 medical secretaries.

21 employees are qualified laboratory analysts, 9 are specialists in laboratory medical genetics or clinical genetics while 6 employees are currently specialty registrars.

History

The Medical Genetics Department was established in 1973 by the decision of the Director of the Institute of Mother and Child, Krystyna Bożkowa Prof., M.D., PhD, as one of the first scientific research and diagnostic institutions of this kind in Poland. The newly created Department drew upon the clinical and research experience of the congenital diseases and genetics unit, established in 1960, and the Cytogenetics Laboratory established in 1962 and directed by Anna Stolarska MSc. The Medical Genetics Department was organised and directed by Przemysław Czerski Prof., M.D., PhD.

During the first period of existence, the Department focused on introducing state-of-the-art cytogenetic methods to clinical diagnostics, including prenatal screening of chromosomal aberrations, and on organising genetic counselling, assessment of its effectiveness and training in the fundamentals of medical genetics for paediatricians. These activities resulted in numerous publications, PhD theses on cytogenetics and clinical genetics and a research project on organising genetic care in the Wola district of Warsaw and on genetic counselling effectiveness assessment, which was implemented within Polish-American cooperation. Up to 1981 the Department maintained scientific contacts with medical genetics centres in the United Kingdom, the United States and France. Moreover, the employees participated in short- and long-term internships in many centres in Western Europe and in the United States.

From 1985 to 1990 the Department implemented a research project on medical genetics under the Central Research and Development Programme and coordinated multicentre studies on genetic counselling and on organising regional (Poznan, Cracow, Lodz) registers of congenital anomalies.

In 1986 the Molecular Genetics Laboratory, one of the first such laboratories in Poland, was established within the Department.

Tadeusz Mazurczak Prof., M.D., PhD was the director of the Department from 1980 till the end of 2010. Ewa Bocian Prof., M.D., PhD was the director from 2011 to 2013. Jerzy Bal Prof., M.D., PhD has been the acting director of the Medical Genetics Department since 2014.

Activity

The Department's activities cover the fields of clinical genetics, cytogenetic and molecular diagnostics. With regard to clinical aspects they include the analysis of genetically determined congenital and dysmorphic anomalies and syndromes and the correlation between a specific clinical image and the identified genetic defect. Cytogenetic research focuses on etiopathogenesis and clinical expression of chromosomal syndromes, in particular on karyotyping cytogenetic-molecular characteristics of chromosomal aberrations including physical mapping of selected chromosomal regions. Both postnatal and prenatal screening, including both invasive and noninvasive testing are conducted. Molecular research includes the analysis of molecular pathology of congenital diseases and of the essence of mutations at the DNA, protein and cell level, including identifying, mapping and modifying the expression of genes that determine a specific pathology as well as identifying genomic markers for the purposes of diagnosing, treating and preventing. The state-of-the-art genome analysis methods and techniques are applied.

Since the mid-80's the Department's research activities have focused on investigating the essence of defect and molecular pathology of genetic diseases as well as on genetic counselling methodology. Since 2000 the Medical Genetics Department have completed over 70 its own research projects, including 2 multicentre commissioned research projects directed by Tadeusz Mazurczak Prof. and a research & development project entitled ‘The introduction of the state-of-the-art microchip technology (array CGH) to the research on etiopathogenesis and clinical diagnostics of selected diseases with serious medical and social consequences' leaded by Paweł Stankiewicz PhD. The Department's employees co-conducted two European projects. Dorota Hoffman-Zacharska PhD managed the Polish part of the EuroEpinomics project (Functional genomics variation in the epilepsies). The international cooperation (Baylor College of Medicine) is continued under the Harmony project entitled ‘An attempt at identifying the genes responsible for neuronal migration in the development of human central nervous system' leaded by Wojciech Wiszniewski habilitated PhD (Polish: dr hab.).

The Medical Genetics Department was also the principal investigator and coordinator of the Health Policy Programme of the Ministry of Health with regard to ‘Prevention of congenital diseases. Molecular study and genetic counselling'. This programme was implemented in cooperation with 10 medical genetics centres in Poland. The introduction of state-of-the-art molecular biology methods to routine diagnostic testing of genetic diseases is the practical effect of altogether 73 research projects and programmes financed mainly by the State Committee for Scientific Research, the National Science Centre, the Foundation for Polish Science, the Ministry of Science and Higher Education and the Ministry of Health. The Department won three team awards granted by the Minister of Health and Social Welfare and many awards granted by scientific societies for the results of its research and implementation work.

In 1998 professor Jerzy Bal received the first degree award of the Polish Genetics Society for the book entitled: ‘Molecular and Cytogenetic Studies in Medicine. Elements of Medical Genetics' (Springer PWN), which he edited. It was the first publication of this kind in Poland. A considerable part of the book was elaborated by the employees of the Department to meet the didactic demand for such a publication. At the moment the third edition of this manual (‘Molecular Biology in Medicine. Elements of Medical Genetics' Wydawnictwo Naukowe PWN, Warsaw 2011) is available. In 2003 Wydawnictwo Naukowe PWN published a book edited by professor Tadeusz Mazurczak and entitled ‘Using Biology in Medicine and the Human Dignity. Ethical and Legal Aspects'.

The students of the University of Warsaw, Medical University of Warsaw and Warsaw University of Life Sciences prepared 17 Bachelor's theses and 37 Master's theses under the supervision of the Department's employees. 27 scientific employees of the Department received their doctorate and 6 prepared their habilitation theses.

From 2006 to 2015 the employees of the Department published over 250 papers in national and foreign journals and published further 5 monographs.

Professor Tadeusz Mazurczak was the academic editor of the following books translated by the employees of Medical Genetics Department and published by Wydawnictwo PZWL: ‘EssentialMedical Genetics' by Connor, J.M., Ferguson-Smith, M.A., ‘Colour Atlas of Genetics' by Passarge, E., ‘Medical Genetics' by Bradley, J.R., Johnson, D.R. and Pober, P.B. Professor Tadeusz Mazurczak was also the academic editor of the materials from the conference organised by the Polish Society of Human Genetics and the Medical Genetics Department entitled Using Biology in Medicine and the Human Dignity. Ethical and Legal Aspects' published by PWN.

We have also prepared, or co-prepared, a number of expert opinions for the Ministry of Health, concerning diagnostics and genetic counselling for genetically determined disorders, namely:

1. Zasady diagnostyki i poradnictwa genetycznego w zaburzeniach rozwojowych uwarunkowanych mikrodelecjami chromosomowymi. (1998) Mazurczak T, Obersztyn E, Bocian E, Szpecht-Potocka A, Stankiewicz P, Szewczyk E, Jakubów-Durska K. [The principles of diagnosis and genetic counselling in developmental disorders conditioned by chromosome microdeletions]

2. Zasady diagnostyki i poradnictwa genetycznego w przypadkach niespecyficznego upośledzenia umysłowego ze szczególnym uwzględnieniem Zespołu łamliwego chromosomu X. (1998) Mazurczak T, Karwacki M, Obersztyn E, Szpecht-Potocka A, Bocian E, Bal J, Palczewska I, Sobczyńska A. [Principles of diagnosis and genetic counselling in cases of non-specific mental retardation with particular emphasis on fragile X syndrome]

3. Diagnostyka cytogenetyczna chorób genetycznych - kryteria i zasady procedury diagnostycznej oraz systemu kontroli jakości badań. Propozycja wdrożenia takiego systemu w Polsce. (2000) Bocian E. and a team of clinical genetics experts (Kałużewski B, Krajewska-Walasek M, Latos-Bieleńska A, Limon J, Mazurczak T, Zaremba J) [Cytogenetic diagnosis of genetic diseases - the criteria and rules of diagnostic procedure and quality control system for tests. A proposal to implement such a system in Poland]

4. Zasady diagnostyki molekularnej mukowiscydozy. Identyfikacja mutacji i zmian polimorficznych w genie CFTR. Kryteria i zasady procedury diagnostycznej oraz systemu kontroli jakości badań (2000) Mazurczak T, Bal J, Obersztyn E, Sobczyńska-Tomaszewska A, Wiszniewski W. [The principles of molecular diagnosis of cystic fibrosis. Identification of mutations and polymorphisms in the CFTR gene. The criteria and rules of diagnostic procedure and the test quality control system]

5. Zasady diagnostyki molekularnej dziedzicznej hiperfenyloalaninemii. Charakterystyka molekularna zmian w genach kodujących hydroksylazę fenyloalaninową oraz syntezę tetrahydrobiopterynową w populacji polskiej (2000). Mazurczak T, Żekanowski C, Nowacka M, Bal J. [The principles of molecular diagnostics of hereditary hyperphenylalaninemia. Molecular characterization of changes in genes encoding phenylalanine hydroxylase and tetrahydrobiopterin synthesis in the Polish population]

6. Identyfikacja mutacji i zmian polimorficznych w genie CFTR. Zasady diagnostyki molekularnej atypowej postaci mukowiscydozy. Molekularna analiza defektów w niepłodności męskiej powodowanej obustronną niedrożnością przewodów nasiennych (CBAVD). (2000). Mazurczak T, Sobczyńska-Tomaszewska A., Bal J. [Identification of mutations and polymorphisms in the CFTR gene. The principles of molecular diagnostics of an atypical form of cystic fibrosis. Molecular analysis of defects in male infertility caused by bilateral obstruction of vas deferens (CBAVD)]

7. Wykorzystanie analizy DNA w diagnostyce izolowanej postaci głuchoty. Identyfikacja mutacji del35G w genie GJB2 (2001). Wiszniewski W, Nowakowska-Szyrwińska E, Mazurczak T, Bal J. [The use of DNA analysis in the diagnosis of isolated forms of deafness. Identification of del35G mutations in gene GJB2]

8. Zastosowanie technik biologii molekularnej w diagnostyce rdzeniowego zaniku mięśni (SMA) (2003) Mazurczak T, Hausmanowa-Petrusewicz I, Zaremba J, Bal J, Zimowski J, Jędrzejowska M, Wiszniewski W. [The use of molecular biology techniques in the diagnosis of spinal muscular atrophy (SMA)]

9. Zasady kontroli jakości w molekularnych badaniach diagnostycznych chorób dziedzicznych człowieka. (2004) Mazurczak T, Sobczyńska-Tomaszewska A, Bal J. [Principles of quality control in molecular diagnostic tests for human hereditary diseases]

The Department has modern research equipment and laboratory facilities and highly qualified research staff.

Scientific research and diagnostics conducted at the Department correspond to world standards, which is reflected in numerous publications in English-language journals and the results which are verified under international systems of quality assessment of diagnostic tests (e.g. Labquality, EQASCF and EMQN). The Department is recognised by the Ministry of Health as a reference centre for the specialist training of doctors in the field of clinical genetics and laboratory diagnosticians in the field of laboratory-based medical genetics. Employees of the Department co-authored the specialisation programme in laboratory medical genetics. The Department admits students for internships, conducts courses and individual training in the field of human genetics, cytogenetics and molecular biology. The Department cooperates with numerous centres of medical genetics in Poland and abroad, e.g. with the Baylor College of Medicine in Houston (USA), the renowned centre of scientific diagnosis, and the Catholic University of Leuven (Belgium). Employees of the Department are members of international research consortia and numerous learned societies in Poland and other countries. In 2002–2010, Prof. Tadeusz Mazurczak, the head of the Department, served as Chairman of the Polish Society of Human Genetics.

Research projects (more)

Own projects conducted at our Department:

No.

Project ID

Project title and timing

Project Manager (Polish academic titles)

1

4 S405 013 04

Cystic fibrosis. Identification of mutations and polymorphism changes in the CFTR gene (1993–1995)

dr hab. Jerzy BAL

2

4 S405 028 05

Identification of mutations and polymorphism changes in the phenylalanine hydroxylase gene in families with phenylketonuria (1993–1996)

dr Dorota MACIEJKO

3

4 S405 004 07

The use of molecular tests in the diagnosis of diseases conditioned by the parental genomic imprint on the example of Prader-Willi syndrome (1994–1996)

prof. dr hab. med. Tadeusz MAZURCZAK

4

6641 591 02

Cytogenetic and molecular studies in FRAX   (1995–1997)

dr hab.
Ewa BOCIAN

5

4 P05E 066 10

Cystic fibrosis. Identification of new mutations in the CFTR gene (1996–1998)

 dr hab. Jerzy BAL

6

4 P05A 039 13

Identification of mutations in the phenylalanine hydroxylase gene causing mild forms of hyperphenylalaninemia (1997–1999)

dr Cezary ŻEKANOWSKI

7

4 PO5E 037 16

Assessment of the role of submicroscopic chromosomal aberrations of telomeric regions in the etiology of nonspecific mental retardation (1999–2002)

doc. dr hab.
Ewa BOCIAN

8

4 PO5E 081 16

Identification and characterisation of a molecular defect in gene GJB2 in families with congenital deafness (1999–2001)

doc. dr hab.
Jerzy BAL

9

4 PO5E 022 17

Molecular analysis of defects in the CFTR gene in cases of male infertility caused by bilateral obstruction of vas deferens (1999–2002)

prof. dr hab.
Tadeusz MAZURCZAK

10

4 PO5E 065 19

Characteristics of mutations in the CFTR gene in male infertility [PhD grant, Agnieszka Tomaszewska-Sobczyńska] (2000–2002)

prof. dr hab.
Tadeusz MAZURCZAK

11

4 PO5E 118 19

Characteristics of mutations in the RFXANK gene in families with an inherited deficit of the expression of MHC II [PhD grant, Wojciech Wiszniewski] (2000–2002)

prof. dr hab.
Jerzy BAL

12

3 PO5E 053 24

Assessment of the role of submicroscopic chromosomal telomeric aberrations in the etiology of mental retardation of unknown etiology [PhD grant, Helias-Rodzewicz] (2003–2004)

doc. dr hab.
Ewa BOCIAN

13

PBZ-KBN-042/PO5/2001

Molecular medicine. Changes in the human genome in the pathogenesis and clinical expression of inherited diseases – a commissioned project – a bundle of 5 projects (2001–2004)

co-ordinator:
prof. dr hab.
Tadeusz MAZURCZAK

14

PBZ-KBN-042/PO5/05

Studies on the molecular causes of non-specific impairment of mental development. Identification of mutations in genes located on the X chromosome as well as cytogenetic and molecular analysis of specific chromosomal regions (2001–2004)

prof. dr hab.
Tadeusz MAZURCZAK
 

15

PBZ-KBN-042/PO5/06

Understanding the structure, the functional and immunological role of the gene product in the pathogenesis of diseases. Identification of amino acid sequences of the CFTR protein responsible for the formation aggresomes. Implications for the pathogenesis of cystic fibrosis and neurodegenerative diseases in humans (2001–2004)

dr n. med.
Michał MILEWSKI

16

3 PO5E 104 22

Identifying the molecular defect in gene NF2. Analysis of genotype-phenotype correlations in patients with type 2 neurofibromatosis (2002–2004)

dr Agnieszka SZPECHT-POTOCKA

17

3 PO5E 082 24

Acute lymphoblastic leukemia (ALL) in children. Molecular studies of markers of cancer cells and their usefulness in the diagnosis of the disease and its prognosis. [PhD grant, M. Jurkowska] (2003–2004)

prof. dr hab.
Jerzy BAL

18

3 PO5E 075 23

The search for genetic factors modifying the clinical picture of cystic fibrosis. An attempt to correlate mutations in genes AAT, MBL2 and INF-gamma with pulmonary fibrosis (2002–2005)

prof. dr hab.
Jerzy BAL

19

2 P05E 111 27

The search for genetic modifiers of the clinical picture of cystic fibrosis. An attempt to correlate mutations and polymorphic changes in genes GSTM1, PTGS1 and PTGem of the disease [PhD grant, K. Czerska] (2004–2007)

prof. dr hab.
Jerzy BAL

20

2 P04A 06128

The usefulness of cytogenetic and molecular methods of genome analysis in the diagnosis of phenotypic disorders found in people with an abnormal karyotype [PhD grant, K. Borg] (2005–2007)

doc. dr hab.
Ewa BOCIAN
 

21

2 P05A 053 28

Studies on the molecular background of the Noonan syndrome. An attempt to correlate mutations in gene PTPN11 with the clinical expression of the disease (2005–2007)

dr med.
Ewa OBERSZTYN

22

2 P05A 128 28

Genetic and molecular analysis of isolated forms of intellectual disability. An attempt to identify genes and mutations responsible for the form of the disease linked to chromosome X [PhD grant, Magda Nawara] (2005–2007)

prof dr hab. med.
Tadeusz MAZURCZAK

23

2 P04A 060 28

Molecular background and clinical characteristics of primary torsion dystonia – an attempt at a genotype - phenotype correlation [PhD grant, Krzysztof Szczałuba M.D.] (2005–2007)

prof dr hab. med.
Tadeusz MAZURCZAK

24

KBN
2 P05A 157 29

Chaperone proteins as modulators of intracellular aggregation of proteins in the context of future therapy of conformational diseases (2005–2008)

dr n. med.
Michał MILEWSKI

25

KBN
2 PO5A 191 29

An attempt to use cytogenetic and molecular genome analysis to study etiopathogenesis of inherited diseases on the model of submicroscopic chromosomal rearrangements (2005–2008)

prof. dr hab. med.
Ewa BOCIAN
 

26

PBZ-KBN
122/P05/2004/01/8

The significance of polyproline strings for huntingtin aggregation and the pathogenesis of the Huntington's disease (2005–2008)

prof. dr hab.
Jerzy BAL

27

PBZ-KBN
122/P05/2004/01/11

The search for clinical phenotype modifiers of primary torsion dystonia – identification of proteins related to aggregation of torsinA and its accumulation in the nuclear shell (2005–2008)

dr n. med.
Michał MILEWSKI

28

PBZ-KBN
122/P05/2004/01/4

Studying the molecular background of the Angelman syndrome (AS). Oligogenic and epigenetic hypothesis (MEGD) of the AS pathogenesis (2005–2008)

dr Agnieszka SZPECHT-POTOCKA

29

PBZ-KBN
122/P05/2004/01/6

The structure and function of the CAL protein and its role in the pathogenesis of cystic fibrosis and male infertility (2005–2008)

dr n. med. Agnieszka
SOBCZYŃSKA-TOMASZEWSKA

30

PBZ-KBN
122/P05/2004/01/9

An attempt to identify genes involved in the development of cognitive functions. Genetic studies of families burdened with non-specific form of X-linked intellectual disability (2005–2008)

prof. dr hab. med.
Tadeusz MAZURCZAK

31

PBZ-KBN
122/P05/2004/01

Etiopathogenesis hereditary diseases in humans. The study of molecular pathology of hereditary diseases using genomics and proteomics (2005–2008)

prof. dr hab. med.
Tadeusz MAZURCZAK

32

PBZ-KBN
122/P05/2004/01/1

Application of the cytogenetic and molecular genome analysis with particular emphasis on regions of fractures of balanced chromosomal rearrangements to study the etiopathogenesis of hereditary diseases (2005–2008)

prof. dr hab. med.
Ewa BOCIAN

33

PBZ-KBN
122/P05/2004/01/7

Examination of the effect of position as an adjustment mechanism for gene expression. Evaluation of the impact on chromatin remodeling on phenotypic variation of campomelic dysplasia (2005–2008)

dr n. med.
Paweł STANKIEWICZ

34

N 401 017 31/0307

Evaluation of the usefulness of molecular methods for analysing karyotypes (HR-CGH ​​and CGH for microarray) in specific clinical cases, difficult to diagnose using conventional cytogenetic methods [PhD grant, B. Nowakowska] (2006–2008)

prof. dr hab. med.
Ewa BOCIAN

35

N 401 032 32 0747

Changes in the osteoarticular system and the risk of osteoporosis in children with cystic fibrosis. Genetic markers of phenotypic variability (2007–2009)

prof. dr hab. Jerzy BAL

36

N 407 004 32/0072

Assessment of variability of clinical expression of the Noonan syndrome in the context of the mutations found in gene PTPN11 [PhD grant, J. Klapecki] (2007–2009)

prof. dr hab. Tadeusz MAZURCZAK

37

N 401 219 634

Significance of the domain of polyproline huntingtin for interaction with other proteins. Implications for the pathogenesis of Huntington's disease [PhD grant, D. Bąk] (2008–2010)

prof. dr hab. Jerzy BAL

38

N 407 171 134

The study of molecular pathology of gene COL7A1 in the context of the occurrence of dystrophic epidermolysis bullosa hereditaria (EBHD). An attempt to correlate the genotype-phenotype in a group of Polish patients with EBHD (2008–2010)

dr n. med. Agnieszka SOBCZYŃSKA-TOMASZEWSKA

39

R 13 0005 04/2008

Introduction of the latest microchips technology (array CGH) to study etiopathogenesis and clinical diagnostics of selected diseases with serious medical and social consequences (2008–2011)

doc. dr hab. Paweł STANKIEWICZ

40

N 401 12 9936

The role of the sodium channel in the pathology of diseases with a cystic fibrosis phenotype. An attempt to correlate molecular changes in genes SCNN1α, SCNN1β, and SCNN1Y with the clinical picture of the disease (2009–2012)

dr n. med. Aleksandra NOREK

41

N 401 13 0436

Molecular background of the Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Identification and functional analysis of mutations in the PLP1 gene (2009–2012)

dr Dorota HOFFMAN-ZACHARSKA

42

NN401135439

Analysis of antiplatelet properties of torsinA on the example of the tau protein, α-synuclein, huntingtin, and copper-zinc superoxide dismutase (2010–2012)

prof. ndzw. Michał MILEWSKI

43

NN 407 459 438

A study of etiopathogenesis of congenital malformations with the use of comparative genomic hybridization to a microarray (aCGH) (2010–2012)

dr n. med. Krzysztof SZCZAŁUBA

44

NN407133739

A study of etiopathogenesis of intellectual disability. Mapping and identification of genes located on the X chromosome using a CGH microarray (2010–2013)

dr Magdalena NAWARA

45

NN401375839

Effect of autophagy-related proteins on neutralisation of toxic fragments of aggregating huntingtin (2010–2013)

prof. dr hab.
Jerzy BAL

46

2011/01/D/NZ5/011347

Molecular variability of RAS-MAPK pathway genes and phenotypic expression of the Noonan syndrome (2011–2014)

dr n. med.
Jakub KLAPECKI

47

HOMING PLUS/2012-5/9
(projekt Fundacji na rzecz Nauki Polskiej)

Identification of novel genes Causing DiGeorge Syndrome (2012–2015)

dr n. med.
Beata NOWAKOWSKA

48

2012/07/B/NZ4/01764

An attempt to determine functional changes of genes related to intellectual and cognitive efficiency (2013–2016)

prof. dr hab.
Jerzy BAL

49

2012/06/M/N22/00101

An attempt to identify genes responsible for neuronal migration in the development of human central nervous system (2012–2014)

prof. ndzw. Wojciech WISZNIEWSKI

50

UMO-2013/09/B/NZ2/03164

Identification of new genes involved in the pathogenesis of the Noonan syndrome – a functional analysis of identified changes in the context of the RAS / MAPK activity path (2014–2016)

dr n. biol. Monika GOS

51

2014/13/N/NZ5/03671

Features of the molecular background of isolated impaired hearing in a group of Polish patients – the use of next generation sequencing techniques to identify genes and mutations responsible for the hereditary form of the disease (2015–2017)

mgr
Katarzyna NIEPOKÓJ

52

2014/13/D/NZ5/03304

A change in the global gene expression versus the keratin and lipid profile in rare skin diseases from the group of ichthyosis (2015–2017)

dr n. med.
Katarzyna WERTHEIM-TYSAROWSKA

53

2014/15/D/NZ5/03426

Genetic risk factors in the population of Kashubia and their participation in the pathogenesis of intellectual disability with autosomal recessive inheritance (2015–2018)

dr n. med.
Agnieszka CHARZEWSKA

54

 

The causes of phenotypic variation of epileptic syndromes conditioned by mutations in the sodium ion channel Nav1.1

dr Dorota HOFFMAN-ZACHARSKA

55

2015/17/B/NZ5/01357

The search for genetic causes of variation in the clinical picture in patients with 22q11 deletion syndrome (2016–2018)

dr n. med. Beata NOWAKOWSKA

Projects implemented at the Department in collaboration with other centres:

1

4 PO5E 001 12

Genetic and clinical research on spinal muscular atrophy in children and adolescents: the relationship between phenotype and genotype (1997–2000)

prof. dr hab.
Irena HAUSMANOWA-PETRUSEWICZ
(Principal investigator:
prof. T. MAZURCZAK, doc. dr hab. J. Bal)

2

4 PO5E 001
95C/3630

Early diagnosis and treatment of cystic fibrosis (1998–2000)

prof. dr hab. Janusz SZYMBORSKI
(in collaboration with:
prof. T. MAZURCZAK)

3

4 PO5E 111 14

Molecular diagnosis of galactosemia – identification of mutations in the GALT gene and assessment of the relationship between genotype and the clinical history of the disease and outcome of treatment (1997–2000)

dr Barbara RADOMYSKA
(Principal investigator:
mgr C. ŻEKANOWSKI)

4

4 P05E 07 516

Diagnosis of the Friedreich's ataxia using DNA analysis methods. An attempt to evaluate the influence of genotype-phenotype relationship [advanced research degree grant, T. J. Mazurczak PhD] (1999–2001)

prof. dr hab. Jagna CZOCHAŃSKA
(Consultant: prof. J. BAL)

5

4 PO5E 094 18

MTHFR mutation, level of folic acid in the blood serum and erythrocytes versus the incidence of birth defects of the neural tube (2000–2002)

prof. dr hab. Zbigniew BRZEZIŃSKI
(Principal investigator:
dr A. SZPECHT-POTOCKA)

6

4 PO5E 051 19

Molecular characterisation of tumour cells in the proliferative diseases of the hematopoietic system in children (2000–2002)

dr med. Iwona MALINOWSKA
(Principal investigator:
mgr M. JURKOWSKA)

7

4 PO5E 036 19

A study on correlation between genotype and clinical history in patients with chronic granulomatous disease in the Polish population (2000–2002)

prof. dr hab. Ewa BERNATOWSKA
(Principal investigator:
mgr M. JURKOWSKA)

8

3 PO5E 132 23

An attempt to determine the molecular basis and the phenotype-genotype relationship in chronic pancreatitis. Identification of mutations in genes TRY1, SPINK1 and CFTR (2002–2004)

dr n. med. Beata ORALEWSKA
(Principal investigator:
mgr A. SOBCZYŃSKA-TOMASZEWSKA)

9

3 PO5A 069 23

Chloride channels in the pathogenesis and treatment of cystic fibrosis. Studies on the mechanism of proteins: CFTR, ORCC, CLC2 and GEF1 (2002–2004)

prof. dr hab. Krzysztof DOŁOWY
(Principal investigator:
dr n. med. M. MILEWSKI)

10

PBZ-KBN/090/P05/06

Searching for genetic polymorphisms of selected enzymes Phase I and II, affecting the efficacy of the treatment and toxicity of BFM protocol in acute lymphoblastic leukemia in children (2003–2006)

dr n. med. Iwona MALINOWSKA
(Principal investigator: mgr M. JURKOWSKA)

11

PBZ-KBN091/P05/14

The level of residual disease, the presence of the fusion genes and centrosome aberrations as prognostic factors in selected hematologic malignancies (2003–2006)

prof. dr hab. Jan SIEDLECKI
(Principal investigator:
mgr M. JURKOWSKA)

12

3 PO5E 039 25

Clinical and molecular characteristics of epileptic syndromes associated with genetic predisposition (2003–2006)

prof. dr hab. Jagna CZOCHAŃSKA
(Consultant: prof. dr hab. J. BAL)

13

Fundacja Na Rzecz Wspierania Rozwoju Polskiej Farmacji
i Medycyny - POLFARMA

An assessment of the correlation between the number of copies of gene SMN2, gene expression (at the RNA and protein level), and the clinical phenotype of patients with spinal muscular atrophy (SMA) (2004–2007)

prof. dr hab. med. Irena HAUSAMANOWA-PIETRUSEWICZ
(Contractor: dr M. MILEWSKI)

14

2P05E 00 27

An attempt to explain the intrafamilial variability and an assessment of the state of heterozygosity in a family muscular atrophy (2004–2006)

dr n. med. Maria JĘDRZEJOWSKA
(Contractor: dr M. MILEWSKI,
konsultant: prof. dr hab. J. BAL)

15

2 P05E 115 29

Research on etiopathogenesis of Friedreich's ataxia. An attempt to correlate the clinical picture with the genotype in the light of the heterogeneity of the molecular defect of the disease (analysis of locus FRDA1 and FRDA2) (2005–2007)

dr Dorota HOFFMAN-ZACHARSKA

16

2 PO5E 117 29

Molecular studies of oligogenic predisposition towards the development of polycystic ovary syndrome (PCOS) (2005–2007)

dr n. med. P. KUBIK
(Contractor: dr n. med. A. SOBCZYŃSKA-TOMASZEWSKA)

17

KBN 2 PO5D 016 29

A study of genetic markers of alterations in calcium-phosphate economy and prevalence of osteopenia or osteoporosis in patients with sarcoidosis (2005–2007)

dr n. med. E. PUŚCIŃSKA
(Contractor: dr n. med. A. SOBCZYŃSKA-TOMASZEWSKA)

18

PBZ-KBN
124/P05/2004/

Characteristics of PARK2 gene mutations in patients with Parkinson's disease with early onset: frequency and type. An attempt to correlate the molecular defect with the clinical picture of the disease (2005–2008)

prof dr hab. med. Andrzej FRIEDMAN
(prof. dr hab. J. BAL
mgr M. NAWARA
mgr D. SIELSKA)

19

N 401 056 31/1471

A study on kinetics and transport of ions through the layer of polarised epithelial cells with active CFTR channel and a CFTR channel with blocked expression (2006–2009)

prof. dr hab. Krzysztof DOŁOWY
(dr n. med. M. MILEWSKI)

20

N 401 097 536

Sequence analysis of DNA and RNA structure in the CTA / CTG microsatellite repeat region in gene ATXN8OS and an attempt to explain the phenomenon of incomplete penetration of dynamic mutation causing spinocerebellar ataxia type 8 (SCA8) (2009–2011)

dr n. med. A. SUŁEK-PIĄTKOWSKA (in collaboration with: dr D. HOFFMAN-ZACHARSKA)

21

N 402 279 536

Parkinson's disease: identification, characterisation and genotype/phenotype analysis of molecular defects in genes SNCA, PARK 2, UCHL1, DJ–1, LRRK2 in the Polish population (2009–2011)

dr n. med. Dariusz KOZIOROWSKI (WUM)

22

N N402 233 137

Analysis of the pathology of epidermolysis bullosa dystrophica using a online integration system of epidemiological, clinical and molecular data (2009–2011)

prof. dr hab. Cezary KOWALEWSKI (in collaboration with: mgr K. WERTHEIM-TYSAROWSKA)

23

N 303 456 838

Identification of import and export signals to / from the kernel of cohesins SA1 and A2 in humans in conditions of heterologous expression in Saccharomyces cerevisiae and in cultured human cells (2009–2012)

doc. dr hab. A. KURLANDZKA
(in collaboration with: dr M. MILEWSKI)

24

N 401 011 038

A study on the molecular basis of spinal muscular atrophy in patients without the homozygous loss of gene SMN1. Searching for point mutations in genes SMN1 and IGHMBP2 (2009–2012)

dr n. med. Maria JĘDRZEJOWSKA (in collaboration with:
dr A. SZPECHT-POTOCKA)

25

NN407054439

Molecular basis of epilepsies and epileptic syndromes dependent on the mutation in gene SCN1A. an attempt to correlate the molecular defect with the clinical picture of the disease (2010–2013)

doc. dr hab. Elżbieta SZCZEPANIK
(in collaboration with: dr D. HOFFMAN-ZACHARSKA)

26

NN401182839

A study on kinetics and the balance of ion transport through a layer of polarised epithelial cells (2010–2013)

prof. dr hab. Krzysztof DOŁOWY, (in collaboration with: dr Michał MILEWSKI)

27

UMO-2011/03/B/NZ5/4513

Molecular classification of skin melanoma at stage III of the disease – the correlation of genetic changes in selected signalling pathways and chromosomal loci (based on aCGH) with clinical and pathological factors and treatment outcomes (2012–2015)

dr hab. Piotr Ł. RUTKOWSKI (in collaboration with: Dr B. NOWAKOWSKA, mgr K. SOBECKA)

28

4/XIII/14 (Polfarma)

MicroRNA expression profiling as potential markers of susceptibility / resistance of lung cancer cells in vitro on reversible and irreversible inhibitors of the EGFR tyrosine kinase using the next generation sequencing (2015–2017)

dr Adam SZPECHCIŃSKI (in collaboration with: M. GOS)

29

 

Flaccid baby syndrome: the search for new genetic factors associated with the etiopathogenesis of the disease, with particular emphasis on neuromuscular diseases

dr n. med. Maria JĘDRZEJOWSKA
(in collaboration with: dr n. biol. M. GOS)

European projects:

1

PR5 CRMGEN
G6RD-CT-2001-00581

Certified Reference Materials for Molecular Genetic Testing

Manager: prof. D. BARTON
(in collaboration with: prof. dr hab. J. BAL)

 2

 EuroEpinomics

Functional genomics variation in the epilepsies,
European Science Foundation (ESF) - EUROCORESS Programme 2011-2013

prof. dr P. DE JONGHE
(Head of the Polish team: dr D. HOFFMAN-ZACHARSKA)

 

Structure

Organisational structure:

  • Genetic Counselling Clinic Team
  • Cytogenetics Laboratory Team
  • Molecular Genetics Laboratory Team

Genetic Counselling Clinic

ewa obersztyn Head of Genetic Counselling Clinic
Ewa Obersztyn, Ph.D. M.D.
22 32 77 490, 22 32 77 361
sekretariat.genetyki@imid.med.pl
Lipsk Building, 3rd Floor, room 305.

dr n. med. Anna Kutkowska-Kaźmierczak anna.kutkowska@imid.med.pl
dr n. med. Jennifer Castañeda jennifer.castaneda@imid.med.pl
dr n. med. Paweł Własienko
dr n. med. Artur Barczyk
lek Natalia Beznakow natalia.bezniakow@imid.med.pl
mgr Monika Trzcionkowska
Beata Wieczorek


Range of diagnostic tests offered by the Genetic Counselling Clinic

The Genetic Counselling Clinic offers competent genetic counselling to individuals and families with a diagnosis or suspicion of a genetically determined congenital disease/disorder. Within genetic counselling offered to patients and their families the Clinic will:

  • make (verify) the diagnosis of a genetic disease/disorder based on clinical features (analysis of phenotypic characteristics) and results of specialised medical analyses,
  • analyse and interpret the family history,
  • plan and conduct specialised diagnostic tests offered by the Molecular Genetics Laboratory and Cytogenetics Laboratory as well as other diagnostic tests (e.g. biochemical, medical visualisation), which are indispensable in order to provide reliable genetic counselling,
  • discuss medical recommendations (if any) for prenatal testing and related guidance,
  • offer consultancy for couples with reproductive failure,
  • interpret genetic risk in the context of the health condition determinants.

Advice from the Genetic Counselling Clinic is recommended in the following cases:

  • a child born with a congenital disorder/numerous congenital disorders/dysmorphic features,
  • a child with retarded psychomotor development/intellectual disability among the closest relatives,
  • retarded physical and psychomotor development, congenital disorders, dysmorphic features in the body structure,
  • significant growth retardation: height deficit/disharmony in the body structure/suspicion of skeletal dysplasia,
  • primary amenorrhea,
  • hypotonia or hypertonia (abnormally low or high muscle tone) with concomitant retarded development,
  • a child born with chromosomal aberration/monogenic disease,
  • one of the would-be parents carries a structural chromosomal aberration,
  • a would-be mother carries a gene mutation of an X-linked disease,
  • a positive family history: cases of congenital disorders, intellectual disability or metabolic disorders in the family,
  • a would-be mother's/father's disease/teratogenic agents during pregnancy: drugs, X-rays, chemical compounds,
  • abnormal foetal ultrasound result indicating a possibility of a genetic disorder,
  • abnormal result of non-invasive prenatal testing (the first/second pregnancy trimester),
  • mother's age over 35, advanced age of the father.

Before planned pregnancy in the following cases:

  • the would-be parents are close blood relatives,
  • bad obstetric history (BOH): spontaneous abortion (SAB), pregnancy loss, neonatal death/infant death/cases of congenital disorders and intellectual disability among relatives.

Contact

The Genetic Counselling Clinic Team works every day except for Saturdays and public holidays from 8 a.m. to 2 p.m.

If you are interested in genetic counselling, please do not hesitate to contact us by phone:

+ 48 22 32 77 138, +48 22 32 77 490 or by e-mail:

Ewa Obersztyn, PhD M.D.: ewa.obersztyn@imid.med.pl or sekretariat.genetyki@imid.med.pl

Useful documents are available in the ‘Downloads' section.

Cytogenetics Laboratory

beata nowakowska Director of CytogeneticsLaboratory
Beata Nowakowska, Ph.D. M.D.
22 32 77 131
beata.nowakowska@imid.med.pl
Namysłów Building (white), 1st Floor.

 

 

The Cytogenetics Laboratory Team is divided into two sub-teams: Karyotyping Laboratory and Molecular Cytogenetics Laboratory.

The research and diagnostic work of both laboratories focuses on clinical cytogenetics. We are particularly interested in etiopathogenesis and clinical expression of chromosomal disorders. We constantly strive to improve the methodology of chromosome analysis, which allows us to broaden the range of diagnostic cytogenetic tests. As a result, we regularly introduce new cytogenetic and molecular biology techniques to our diagnostic tests and research work.

Moreover, we have been recently focusing on expanding prenatal diagnostics, including both invasive and non-invasive tests. The introduction of DNA microarray technology to prenatal testing has enabled us to identify chromosomal aberrations that until now were beyond the resolution of classic karyotyping and which are responsible for foetal disorders that can be detected by ultrasound. At the moment, we are working on the methodology of testing cell-free foetal DNA (cffDNA) from maternal blood. Such tests are aimed at excluding most common chromosomal aberrations of foetuses without having to conduct an invasive test, which entails a risk of complications or spontaneous abortion.

Kariotyping Laboratory

Molecular Cytogenetics Laboratory

Description of diagnostic tests:

(the updated pricelist and necessary documents are available in the ‘Downloads' section)

Non-invasive prenatal testing (NIPT)

This non-invasive prenatal test (NIPT) consists in analysing the foetal DNA from maternal blood.

This analysis allows us to identify the most frequent foetal aneuploidies, namely:

  • Down syndrome (trisomy 21 i.e. an extra copy of chromosome 21)
  • Edwards' syndrome (trisomy 18 i.e. an extra copy of chromosome 18)
  • Patau syndrome (trisomy 13 i.e. an extra copy of chromosome 13)

It also allows us to determine the sex of the foetus.

The reliability of NIPT is very high. The sensitivity to Down syndrome is 99.5%, which means that the NIPT will detect 199 cases among 200 pregnancies where the foetus has the Down syndrome, and present 1 false ‘normal' result. The test sensitivity for Edwards' syndrome is 98%, with 80% for Patau syndrome.

The test can be conducted when the 10th week of gestation is completed.

Price of this test: PLN 2,500 (the cost includes a visit at the IMC Genetic Counselling Clinic)

Invasive prenatal testing

Karyotyping

Foetal karyotyping is a basic cytogenetic test which allows us to determine the number and structure of chromosomes. Prenatal evaluation of a karyotype is recommended when the risk of chromosomal aberration in a foetus is higher than in the general population. It occurs in the following cases:

  • the would-be mother is over 35 y.o.
  • an abnormal result of biochemical screening
  • an abnormal result of the ultrasound scan (foetal developmental abnormalities)
  • a chromosomal aberration in one of the parents
  • a previous child was born with a chromosomal aberration.

Foetal karyotyping consists in analysing the interphase nuclei of the cells from the amniotic fluid, trophoblast or umbilical cord blood obtained through amniopuncture, trophoblast biopsy or percutaneous umbilical cord blood sampling (cordocentesis) respectively.

The waiting time for the test result is from 10 to 14 days (7 days for cordocentesis) due to the necessity to wait for the cell culture to grow.

Price of this test: PLN 750

Detailed information available at: +48 22 3277162

Rapid prenatal aneuploidy screening by fluorescence in situ hybridisation (rapid-FISH)

This test is performed on the interphase nuclei obtained directly from the amniotic fluid. It enables quick diagnosis of the most common aneuploidies: trisomy 21 (Down syndrome), 18 trisomy (Edwards' syndrome), 13 trisomy (Patau syndrome), sex chromosome aneuploidies (Turner syndrome and Klinefelter syndrome) and polyploidy.

This test is limited to analysing the above-mentioned chromosomes and it does not replace complete prenatal screening (ultrasound, complete karyotyping).

Material to analyse: amniotic fluid

Waiting time for the test result: 2–3 days

Price of this test: PLN 650

Detailed information available at: +48 22 3277162

BACs-on-Beads (BoBs)

Chromosome aneuploidy accounts for 65% to 85% of all prenatally detected chromosomal aberrations. Submicroscopic genome imbalances, responsible for some microdeletion/microduplication syndromes, are the second most frequent reason for anomalies detected in foetuses. The new BACs-on-Beads (BoBs) method, introduced in 2010, apart from diagnosing aneuploidies of chromosomes 13, 18, 21, X and Y, additionally allows us to identify aberrations in 9 chromosomal regions that determine the known microdeletion/microduplication syndromes (namely DiGeorge, Williams-Beuren, Prader-Willi, Angelman, Smith-Magenis, Wolf-Hirschhorn, Cri du Chat, Langer-Giedion and Miller-Dieker syndromes).

Material to analyse: amniotic fluid

Waiting time for the test result: 7–10 days

Price of this test: PLN 950

Detailed information available at: +48 22 3277162

Microarray-based Comparative Genomic Hybridisation (a CGH) method

Microarray-based test is the first prenatal diagnostic test conducted in Western European countries.

The entire genome microarray analysis is thought to identify chromosomal deletion or duplication in approx. 19% of foetuses in which abnormalities were detected by ultrasound.

The aCGH method is recommended for prenatal diagnostics in the same cases as classic karyotyping. However, this technique is much more sensitive and increases the effectiveness of detecting chromosomal pathology compared to conventional karyotyping. Moreover, it significantly reduces the testing time.

Material to analyse: amniotic fluid, trophoblast and umbilical cord blood

Waiting time for the test result: 3–4 days

Price of this test: PLN 1,600

Detailed information available at: +48 22 3277191

Genetic analysis of chorionic villus from spontaneous abortion

Microarray-based Comparative Genomic Hybridisation (a CGH) method

It is estimated that spontaneous abortion occurs in 8–20% of confirmed pregnancies. Embryonic/foetal chromosomal aberration is the most frequent reason for pregnancy losses (approx. 75%).

The microarray-based comparative genomic hybridisation (aCGH) is the most effective method to identify chromosomal aberrations in the material from spontaneous abortion because it is the only method that detects all the unbalanced aberrations, including submicroscopic deletion and duplication, which cannot be detected by any other cytogenetic methods.

The microarray-based (aCGH) tests of materials from spontaneous abortions hitherto conducted have revealed that trisomies (mainly trisomies 16, 18 and 22), which occur mainly as a result of errors during maternal meiosis, account for over a half of chromosomal aberrations detected in spontaneously aborted embryos/foetuses. X chromosome monosomy is another frequently detected chromosomal aberration. Other reasons for spontaneous abortion include: embryonic/foetal structural chromosomal aberrations – deletions (most common: 1p36.13; 2p11.2; 3q29; 13q12.11) or duplications (most frequent: 8q12.1; 15q11.11q11.12; Xq22.2), as well as submicroscopic genomic rearrangements.

The aCGH test quickly identifies the reason for spontaneous abortion and provides the gynaecologist with guidelines as to which tests should be applied for further diagnostics. The possibility of detecting submicroscopic genomic rearrangements is particularly important, as such rearrangements may be caused by an aberration in one of the parents, which entails a risk that aberrations will occur in the subsequent pregnancy.

This test does not detect foetal polyploidy. If suspected, a rapid-FISH test is recommended.

The test is conducted on a fragment of chorionic villus sampled by a gynaecologist while cleaning the uterine cavity. The material should be kept in a saline solution at 4°C until dispatched. A container with the sample should be sent to the Cytogenetic Laboratory of the Medical Genetics Department by expedited post, in ambient temperature.

Material to analyse: a fragment of chorionic villus

Waiting time for the test result: 3–4 days

Price of this test: PLN 1,600

Detailed information available at: +48 22 3277191

FISH in interphase nuclei (rapid-FISH)

This test is performed on the interphase nuclei obtained directly from the amniotic fluid. It allows quick diagnosis of the most common aneuploidies: trisomy 21 (Down syndrome), 18 trisomy (Edwards' syndrome), 13 trisomy (Patau syndrome), sex chromosome aneuploidies (Turner syndrome and Klinefelter syndrome) and polyploidy. This test is limited to analysing the above-mentioned chromosomes.

The rapid-FISH test allows us to determine the sex of the foetus.

The test is conducted on a fragment of chorionic villus sampled by a gynaecologist while cleaning the uterine cavity. The material should be kept in a saline solution at 4°C until dispatched. A container with the sample should be sent to the Cytogenetic Laboratory of the Medical Genetics Department by expedited post, in ambient temperature.

Material to analyse: a fragment of chorionic villus

Waiting time for the test result: 3–4 days

Price of this test: PLN 650

Detailed information available at: +48 22 3277191

Postnatal testing

Karyotyping based on peripheral blood

The Karyotyping Laboratory determines the karyotype in peripheral blood lymphocytes. The tests are conducted in compliance with the recommendations of the European Cytogeneticists Association and are subject to cytogenetic external quality assessment (CEQAS).

Karyotyping is recommended mainly in the following cases:

  • suspected specific chromosomal syndrome based on clinical features,
  • multiple developmental abnormalities (in a living or dead child, e.g. a stillborn foetus),
  • intellectual disability with concomitant dysmorphic features and/or developmental abnormalities,
  • certain isolated developmental abnormalities in a child (e.g. regarding sex organs),
  • reproductive failure,
  • infertility cases.

The cytogenetic tests are conducted on whole blood samples, drawn in heparin tubes (minimum 3 ml of blood). Tubes with blood should be sent to the Cytogenetic Laboratory of the Medical Genetics Department by expedited post, in ambient temperature.

Material to analyse: peripheral blood

Waiting time for the test result: up to 3 weeks

Price of this test: PLN 500

Detailed information available at: +48 22 3277162 or +48 22 3277155

The microarray-based comparative genomic hybridisation (aCGH) method allows us to analyse the whole genome in one test, with very high resolution. The test identifies unbalanced chromosomal aberrations (deletion/duplication), which could not be detected through classic cytogenetic methods. The test also helps to ensure complete identification of aberrations that cannot be attributed to specific chromosomes in standard karyotyping. It is used as the method of choice for diagnosing intellectual disability with concomitant dysmorphic features and/or developmental abnormalities.

This test is conducted on whole blood samples, drawn in EDTA tubes (minimum 1 ml of blood). Tubes with blood should be sent to the Cytogenetic Laboratory of the Medical Genetics Department by expedited post, in ambient temperature.

Material to analyse: peripheral blood

Waiting time for the test result: 3–7 days

Price of this test: PLN 1,600

Detailed information available at: +48 22 3277191

The MLPA (Multiplex Ligation-dependent Probe Amplification) method allows us to conduct a quantitative evaluation of several dozens of different nucleotide sequences of DNA within one test.

This method is used to diagnose:

• Subtelomeric aberrations (SALSA MLPA KIT P036 MRC Holland)

• Microdeletion/microduplication syndromes (SALSA MLPA KIT P245 and P297 MRC Holland)

SALSA MLPA kit P245

Microdeletion/microduplication syndromes

SALSA MLPA kit P297

Microdeletion/microduplication syndromes:

 1p36

 2p16

 2q23 / MBD5 gene

 2q33 / SATB2 gene

 3q29

 4p16.3 (Wolf-Hirschhorn syndrome)

 5p15 (Cri du Chat syndrome)

 5q35.3 (Sotos syndrome)

 7q11.23 (Williams syndrome)

 8q (Langer-Giedion syndrome)

 9q22.3

 10p15 (DiGeorge syndrome critical region 2)

 15q11.2 (Prader-Willi/Angelman syndrome)

 15q24

 16p13.3 (Rubinstein-Taybi syndrome)

 17p (Miller-Dieker syndrome)

 17p11.2 (Smith-Magenis syndrome)

 17q11.2 (Neurofibromatosistype 1 (NF1))

 17q21

 22q11 (DiGeorge syndrome)

 22q11 (Distal Deletion syndrome)

 22q13 (Phelan-McDermid syndrome)

 Xq28/ MECP2 gene

 1q21.1 (TAR syndrome)

 1q21.1 (other than TAR syndrome)

 3q29

 7q36.1

 12p11.23

 15q13

 15q24.1

 16p11

 17q12

 18q21.2

 20p12.2

This test is conducted on whole blood samples, drawn in EDTA tubes (minimum 1 ml of blood). Tubes with blood should be sent to the Cytogenetic Laboratory of the Medical Genetics Department by expedited post, in ambient temperature.

Material to analyse: peripheral blood

Waiting time for the test result: up to 3 weeks

Price of this test: PLN 440

Detailed information available at: +48 22 3277145

The FISH method (using commercial probes and probes developed in our Laboratory) is used to identify abnormalities that cannot be attributed to specific chromosomes through standard karyotyping, and to verify results obtained by means of MLPA and microarray-based CGH methods.

The cytogenetic tests are conducted on whole blood samples, drawn in heparin tubes (minimum 3 ml of blood). Tubes with blood should be sent to the Cytogenetic Laboratory of the Medical Genetics Department by expedited post, in ambient temperature.

Material to analyse: peripheral blood

Waiting time for the test result: from 1 to 3 weeks, depending on the type of probe

Price of this test: PLN 650 or 690

Detailed information available at: +48 22 3277145

The research and diagnostic activity of the Molecular Genetics Laboratories is based on the team's experience (the Laboratory has been in operation since 1986), scientific cooperation as well as the challenges of contemporary medical genetics. The Team's research programme focuses on investigating molecular pathology of congenital diseases as well as the nature and functions of mutations at the DNA, protein and cell level. Our research concerns identifying, mapping and modifying the expression of genes that determine a specific pathology as well as identifying genomic markers for the purposes of diagnosing, treating and preventing genetic disorders. The research models include, among others, cystic fibrosis, phenylketonuria, fragile X syndrome, spinal muscular atrophy, microdeletion/microduplication syndromes (e.g. Angelman and Prader-Willi syndromes), Noonan syndrome, deafness, epidermolysis bullosa. Our research interests also include neurodevelopmental disorders such as infantile epilepsy syndromes (Dravet syndrome and other encephalopaties), disorders that result from abnormal brain development (e.g. Pelizaeus-Merzbacher disease, glucose transporter deficiency syndrome), cerebral cortex and other neurological disorders such as Friedrich's ataxia, dystonias or Parkinson's disease.

Molecular Genetics Laboratory

Under construction.

Our Services

Dear Readers,

The scientific and diagnostic activities of the Medical Genetics Department at the Institute of Mother and Child focus on clinical genetics and, in particular, on the diagnosis of genetic defects, disorders and syndromes as well as on counselling services for families with genetic risk. One of the practical results of our activity is that we introduce state-of-the-art molecular biology methods to routine diagnostic tests for genetically determined disorders.

Our unit is a reference centre in Poland in the field of clinical diagnostics and molecular diagnostics and for genetic counselling for many genetic disorders. We have modern research instruments and laboratory equipment as well as highly qualified research staff and technicians. Our scientific research and diagnostic tests correspond with world standards, which is reflected in the results of quality assessment of diagnostic tests, verified within national and international systems. Our unit cooperates with numerous medical genetics centres in Poland and abroad, and our employees are members of international research teams and numerous learned societies in Poland and other countries.

Below presented is the range of tests performed at the Medical Genetics Department:

Cytogenetics Laboratory Team – diagnostic tests offered in 2016: PDF

Molecular Laboratory Team – diagnostic tests offered in 2016: PDF

Gene panels analysed using NGS: PDF

Referrals for tests can be downloaded from ‘Downloads'.

Downloads

Price lists:

Medical Genetics Department – Cytogenetics Laboratory Team – diagnostic tests offered in 2016: PDF

Medical Genetics Department – Molecular Laboratory Team – diagnostic tests offered in 2016: PDF

Referrals for test:

To the Cytogenetics Laboratory Team, with an informed consent form: prenatal - PDF or postnatal - PDF

To the Molecular Laboratory Team, with an informed consent form: PDF

Informed consent form for molecular genetic tests: PDF

Additional materials:

Gene panels analysed using NGS: PDF

Contacts

anna polosak Secretary's office, Medical Genetics Department
Medical secretary: Anna Połosak
tel. (22) 32 77 361
e-mail: sekretariat.genetyki@imid.med.pl

Genetic Counselling Team (Lipsk building, 3rd floor)

The team of the Genetic Counselling Clinic works every day except Saturdays and public holidays from 8 a.m. to 2 p.m. If you are interested in getting genetic counselling, please call us at +48 22 32 77 138, +48 22 32 77 490 or write an e-mail to: sekretariat.genetyki@imid.med.pl

Cytogenetics Laboratory Team (Namysłów building, 1st floor)

Prenatal diagnostics (karyotyping, methods: NIPT, FISH, BoBs, aCGH):
Tel.: +48 22 32 77 162/191

Postnatal diagnostics (karyotyping, methods: MLPA, FISH, aCGH):
Tel.: +48 22 32 77 145/155/191

Molecular Laboratory Team (Main Building, 2nd floor)

Hereditary Diseases Testing Laboratory (Room 232)

Tel.: +48 22 32 77 177, Tel./fax: +48 22 32 77 200

Developmental Genetics Laboratory (Room 231)

Tel.: +48 22 32 77 176

Neurogenetics Laboratory (Room 245)

Tel.: +48 22 32 77 313

Cellular Biology Laboratory (Room 204a)

Tel.: +48 22 32 77 299

 

sands-dorota Acting Director of Medical Genetics Department
Jerzy Bal Prof. PhD.
22 32 77 361
22 32 77 200
sekretariat.genetyki@imid.med.pl, jerzy.bal@imid.med.pl
Lipsk Building, 3rd Floor.