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Elulookirjeldus (CV)
1.Eesnimi Katrin
2.Perekonnanimi Õunap
3.Töökoht Tartu Ülikool, Arstiteaduskond, Lastekliinik; Sihtasutus Tartu Ülikooli Kliinikum, Ühendlabori meditsiinigeneetika ja molekulaardiagnostika keskus
4.Ametikoht Kliinilise geneetika dotsent; pediaater
5.Sünniaeg 29.07.1964 (päev.kuu.aasta)
6.Haridus Tartu Ülikool, arstiteaduskond, pediaatria eriala 1988;
Diplomijärgne erialane koolitus:
03.1990 Venemaa Pediaatria ja Lastekirurgia Instituudis kliinilise geneetika erialal;
10.1992 Helsinki Ülikooli Lastekliinikus kliinilise geneetika erialal;
04.1994 ja 03.1996 Berliini Humboldti Ülikooli Wirchowi Kliinikumi Inimesegeneetika Instituudis kliinilise geneetika erialal;
11.1996 Götebori Ülikooli Sahlgrenska Haigla kliinilise keemia osakonnas pärilike ainevahetushaiguste alal;
10-11.2002 Dresdeni Tehnika Ülikooli Inimesegeneetika Instituudis kliinilise geneetika erialal
7.Teenistuskäik Alates 09.2003 TÜ Arstiteaduskond, Lastekliinik, kliinilise geneetika dotsent;
Alates 06.1999 SA TÜK Ühendlabori meditsiinigeneetika ja molekulaar-
diagnostika keskuse pediaater;
1996-1999 TÜK Lastehaigla, molekulaar-diagnostika keskuse arst-geneetik;
1990-1999 TÜK Lastehaigla, meditsiinigeneetika keskuse pediaater-geneetik;
1989-1990 TÜK Lastehaigla, neuro-rehabilitatsiooni osakond, pediaater;
1988-1989 TÜK Lastehaigla, internatuur pediaatria erialal
8.Teaduskraad Meditsiinidoktor
9.Teaduskraadi välja
andnud asutus, aasta		 Tartu Ülikool, 1999
10.Tunnustused -
11.Teadusorganisatsiooniline
ja –administratiivne
tegevus		 1999-2001 Eesti Inimesegeneetika Ühingu president;
1996-2001 Tartu Pediaatria Seltsi juhatuse liige;
Eesti Arstide liidu, Eesti Lastearstide Seltsi, Eesti Inimesegeneetika Ühingu, Eesti Fenüülketonuuria Ühingu, Euroopa Inimesegeneetika Ühingu ja Rahvusvahelise Ainevahetushaiguste Assotsiatsiooni liige
12.Juhendamisel kaitstud
väitekirjad
13.Teadustöö põhisuunad 1. Kliiniline geneetika
2. Mikrodeletsiooni sündroomid
3. Pärilikud ainevahetushaigused Eestis: esinemissagedus, diagnostika ja ravi
14.Jooksvad grandid Osalen Dots. A. Kurg ETF 5467 teadusgrantis teemal "Uue DNA diagnostika tehnoloogia väljatöötamine inimese kromosoomide struktuursete aberratsioonide tuvastamiseks vaimse alaarengu korral" (2003-2006)
15.Teaduspublikatsioonid

E Õiglane-Shlik, R Rein, V Tillmann, T Talvik, K Õunap. A Girl with Angelman Syndrome and Unusual Limb Deformities. Pediatric Neurology 2005; 33:66-69.

K Õunap, T Ilus, O Bartsch. A Girl With Inverted Triplication of Chromosome 3q25.3-q29 and Multiple Congenital Anomalies Consistent With 3q Duplication Syndrome. Am J Med Genet 2005; 134A: 434-438.

K Õunap, T Ilus, P Laidre, O Uibo, P Tammur, O Bartsch. A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21. Am J Med Genet 2005; Aug 10; [Epub ahead of print].

T Ylisaukko-Oja, K Rehnstrom, R Vanhala, E Kempas, H von Koskull, C Tengstrom, A Mustonen, K Õunap, J Lahdetie, I Jarvela. MECP2 mutation analysis in patients with mental retardation. Am J Med Genet 2005;132:121-4.

K Õunap, O Uibo, R Zordania, L. Kiho, T Ilus, E Õiglane-Shlik, O Bartsch. Three Patients with 9p Deletions Including DMRT1 and DMRT2: a Girl with XY Complement, Bilateral Ovotestes, and Extreme Growth Retardation, and Two XX Females with Normal Pubertal Development. Am J Med Genet 2004; 130:415-23.

K Õunap, T Reimand, ML Magi, O Bartsch. Two sisters with Silver-Russell phenotype. Am J Med Genet 2004; 131A:301-6.

S Walter, K Sandig, GK Hinkel, B Mitulla, K Ounap, G Sims, M Sitska, B Utermann, P Viertel, V Kalscheuer, O Bartsch. Subtelomere FISH in 50 Children With Mental Retardation and Dysmorphy, Identified by a Checklist, Detects 10 Rearrangements Including a De Novo Balanced Translocation of Chromosomes 17p13.3 and 20q13.33. Am J Med Genet 2004;128:364-73.

O Bartsch, M Nemeckova, E Kocarek, A Wagner, A Puchmajerova, M Poppe, K Ounap, P Goetz. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet 2003; 117A(1):1-5.

T Reimand, O Uibo, R Zordania, V Palmiste, K Õunap, T Talvik. Parent’s Satisfaction with Medical and Social Assistance Provided to Children with Down Syndrome: Experience in Estonia. Community Genet 2003; 6:166-70.

E Õiglane, K Õunap, O Bartsch, R Rein, T Talvik. Sudden death of a girl with Prader-Willi syndrome. Genetic Counseling 2002; 13: 459-464.

K. Õunap, O. Bartsch, O. Uibo, P. Laidre. A girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23-qter and trisomy 8q24.3-qter. Am J Med Genet 2002, 108: 322-326.

H. Lilleväli, K. Margus, K. Õunap, A. Metspalu. Mutation 985A>G in the MCAD gene shows low incidence in Estonian population. Hum Mutat 2000;15(3):293-4.

I. Talvik, K. Õunap, O. Bartsch, T. Ilus, O. Uibo, T. Talvik. A boy with coeliac disease, malformations and ring chromosome 13 with deletion 13q32-qter. Am J Med Genet 2000;93:399-402.

K. Õunap, H. Lilleväli, A. Metspalu, M. Lipping-Sitska. Development of the phenylketonuria screening programme in Estonia. J Med Screening 1998;5:22-23.

K. Õunap, I. Justus, M. Lipping-Sitska. Two sisters wiyh growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? Clinical Dysmorphology 1998; Vol.7:45-50.

K. Õunap, P. Laidre, O. Bartsch, R. Rein, M. Lipping-Sitska. Familial Williams-Beuren syndrome. Am J Med Genet 1998; Vol.80:491-493.

H. Lilleväli, K. Õunap, A. Metspalu. Phenylalanine Hydroxylase Gene Mutation R408W is Present on 84% of Estonian Phenylketonuria Chromosomes. Eur J of Human Genet 1996; Vol. 4: 296-300.

K. Õunap, H. Lilleväli, T. Klaassen, A. Metspalu, M. Sitska. The incidence and characterization of phenylketonuric patients in Estonia. J Inherit Metab Dis 1996, Vol.19: 381-382.

viimati muudetud: 06.10.2005

Curriculum Vitae (CV)
1.First Name Katrin
2.Surname Õunap
3.Institution University of Tartu, Department of Pediatrics; Tartu University Clinics, United Laboratories, Medical Genetics and Molecular Diagnostic Centre
4.Position Docent of Clinical Genetics; Pediatrician
5.Date of birth 29.07.1964 (day.month.year)
6.Education Tartu University, Faculty of Medicine, M.D., Date of graduation: June 1988;
Postgraduate medical training:
03.1990 in clinical genetics at Russian Institute of Paediatrics and Child Surgery;
10.1992 in clinical genetics at Helsinki University Children’s Hospital;
04.1994 and 03.1996 in clinical genetics at Institute of Human Genetics, Virchow-Clinicum, Humboldt University, Berlin, Germany;
11.1996 in inborn errors of metabolism at Department of Clinical Chemistry, Göteborg University, Sweden;
10-11.2002 in clinical genetics at Institute of Clinical Genetics, Dresden Technical University, Dresden, Germany
7.Research and
professional experience		 Since 09.2003 University of Tartu, Department of Paediatrics, Docent of Clinical Genetics;
Since 06.1999 Medical Genetics Center and Molecular Diagnostic Center, United Laboratories, Tartu University Clinics, paediatrician;
1996-1999 Tartu University Children's Hospital, Molecular Diagnostic Centre, clinical geneticist;
1990-1999 Tartu University Children's Hospital,Medical Genetics Center, clinical geneticist;
1989–1990 Tartu University Children’s Hospital, Neurorehabilitation Unit, paediatrician;
1988–1989 Tartu University Children’s Hospital, internship (Estonian license to practise as an MD of paediatrics)
8.Academic degree Ph.D.
9.Dates and sites of
earning the degrees		 University of Tartu, 1999
10.Honours/awards -
11.Research-administrative
experience		 1999-2001 The president of Estonian Society of Human Genetics;
1996-2001 The board member of the Pediatric Society of Tartu;
A member of the Estonian Doctors’ Association, Estonian Paediatric Association, Estonian Society of Human Genetics, Society for the Study of Inborn Errors of Metabolism (SSIEM), European Society of Human Genetics (ESHG) and Estonian Phenylketonuria Association
12.Supervised dissertations
13.Current research program 1. Clinical genetics
2.Microdeletion syndromes
3.Inherited metabolic diseases: the incidence, clinical picture, diagnosis and treatment
14.Current grant funding I am participating in ETF grant No 5467 holded by Ass.Prof. A. Kurg about "Development of novel DNA diagnostic technologies for the detection of structural chromosomal abnormalities in case of mental retardation" (2003-2006)
15.List of most important publications

E Õiglane-Shlik, R Rein, V Tillmann, T Talvik, K Õunap. A Girl with Angelman Syndrome and Unusual Limb Deformities. Pediatric Neurology 2005; 33:66-69.

K Õunap, T Ilus, O Bartsch. A Girl With Inverted Triplication of Chromosome 3q25.3-q29 and Multiple Congenital Anomalies Consistent With 3q Duplication Syndrome. Am J Med Genet 2005; 134A: 434-438.

K Õunap, T Ilus, P Laidre, O Uibo, P Tammur, O Bartsch. A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21. Am J Med Genet 2005; Aug 10; [Epub ahead of print].

T Ylisaukko-Oja, K Rehnstrom, R Vanhala, E Kempas, H von Koskull, C Tengstrom, A Mustonen, K Õunap, J Lahdetie, I Jarvela. MECP2 mutation analysis in patients with mental retardation. Am J Med Genet 2005;132:121-4.

K Õunap, O Uibo, R Zordania, L. Kiho, T Ilus, E Õiglane-Shlik, O Bartsch. Three Patients with 9p Deletions Including DMRT1 and DMRT2: a Girl with XY Complement, Bilateral Ovotestes, and Extreme Growth Retardation, and Two XX Females with Normal Pubertal Development. Am J Med Genet 2004; 130:415-23.

K Õunap, T Reimand, ML Magi, O Bartsch. Two sisters with Silver-Russell phenotype. Am J Med Genet 2004; 131A:301-6.

S Walter, K Sandig, GK Hinkel, B Mitulla, K Ounap, G Sims, M Sitska, B Utermann, P Viertel, V Kalscheuer, O Bartsch. Subtelomere FISH in 50 Children With Mental Retardation and Dysmorphy, Identified by a Checklist, Detects 10 Rearrangements Including a De Novo Balanced Translocation of Chromosomes 17p13.3 and 20q13.33. Am J Med Genet 2004;128:364-73.

O Bartsch, M Nemeckova, E Kocarek, A Wagner, A Puchmajerova, M Poppe, K Ounap, P Goetz. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet 2003; 117A(1):1-5.

T Reimand, O Uibo, R Zordania, V Palmiste, K Õunap, T Talvik. Parent’s Satisfaction with Medical and Social Assistance Provided to Children with Down Syndrome: Experience in Estonia. Community Genet 2003; 6:166-70.

E Õiglane, K Õunap, O Bartsch, R Rein, T Talvik. Sudden death of a girl with Prader-Willi syndrome. Genetic Counseling 2002; 13: 459-464.

K. Õunap, O. Bartsch, O. Uibo, P. Laidre. A girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23-qter and trisomy 8q24.3-qter. Am J Med Genet 2002, 108: 322-326.

H. Lilleväli, K. Margus, K. Õunap, A. Metspalu. Mutation 985A>G in the MCAD gene shows low incidence in Estonian population. Hum Mutat 2000;15(3):293-4.

I. Talvik, K. Õunap, O. Bartsch, T. Ilus, O. Uibo, T. Talvik. A boy with coeliac disease, malformations and ring chromosome 13 with deletion 13q32-qter. Am J Med Genet 2000;93:399-402.

K. Õunap, H. Lilleväli, A. Metspalu, M. Lipping-Sitska. Development of the phenylketonuria screening programme in Estonia. J Med Screening 1998;5:22-23.

K. Õunap, I. Justus, M. Lipping-Sitska. Two sisters wiyh growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? Clinical Dysmorphology 1998; Vol.7:45-50.

K. Õunap, P. Laidre, O. Bartsch, R. Rein, M. Lipping-Sitska. Familial Williams-Beuren syndrome. Am J Med Genet 1998; Vol.80:491-493.

H. Lilleväli, K. Õunap, A. Metspalu. Phenylalanine Hydroxylase Gene Mutation R408W is Present on 84% of Estonian Phenylketonuria Chromosomes. Eur J of Human Genet 1996; Vol. 4: 296-300.

K. Õunap, H. Lilleväli, T. Klaassen, A. Metspalu, M. Sitska. The incidence and characterization of phenylketonuric patients in Estonia. J Inherit Metab Dis 1996, Vol.19: 381-382.

last updated: 06.10.2005

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