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)