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Registreerimisvorm
Programm (MS Wordis 71 kb)
   

 EESTI INIMESEGENEETIKA ÜHINGU
VI TEADUSKONVERENTS

Advances in Paediatrics - Metabolomics

 29.- 30. aprill 2005, Tartu, Biomeedikumi auditoorium

Konverents toimub koostöös  PERFECT (Paediatric Research Centre-Focusing on Effective Child Treatment) programmi ning The Children's Memorial Health Institute'ga Varssavist. 

Osavõtutasu liikmetele on 300 kr., mitteliikmetele 450 kr. 
Palun saatke registreerimisvormid e-mailile: estshg@ebc.ee või kairit.joost@lastehaigla.ee. 
Teeside esitamise tähtaeg on 7. aprill. 
Registreerimise tähtaeg on 15. aprill.

Programm

29 April 2005 (Friday)

10.30 – 10.35
Katrin Õunap (Tartu): Opening remarks
10.35 – 10.40
Invitations from the national and academic authorities (Tartu, Estonia):
10.40 – 10.45
Ewa Pronicka (Warsaw): Introduction by the Centre of Excellence PERFECT’s co-ordinator

Session I
Metabolic medicine – past, present and future
Chairpersons: P. Peterson, G. Tasa

10.45 – 11.30
Cornelis Jakobs (Amsterdam): Inborn errors of metabolism (human knock out models) as experiment of nature: What can we learn?
11.30 – 12.00
Toomas Kivisild (Tartu) 
Evolution of human mitochondrial genome: neutrality, natural selection and diseases
12.00 – 12.30
Krystyna Chrzanowska, Abramczuk-Piekutowska D., Białecka M., Gregorek H., Michałkiewicz J., Gajdulewicz M., Wakulińska A., Goryluk-Kozakiewicz B., Spodar K., Popowska E., Krajewska-Walasek M. (Warsaw)
Nijmegen breakage syndrome – a model for genomic instability disorders

      12.30 – 13.00 Coffee break

13.00 – 13.30
Malgorzata Krajewska-Walasek, Ciara E., Jezela-Stanek A., Malunowicz E., Chrzanowska K., Gajdulewicz M., Spodar K., Popowska E. (Warszaw)
Clinical, biochemical and molecular characterization of Polish patients with Smith-Lemli Opitz syndrome
13.30-14.15
Marja Hietala (Turku, Finland) 
The Finnish disease heritage: focus on metabolic disorders

14.15 – 15.15 Lunch

Session II
Early detection of inborn errors of metabolism by selective screening
Chairpersons: C. Jakobs, M. Hietala

15.15-16.00
M. Duran (Amsterdam)
Tandem MS for neonatal screening and selective screening-present and future. 
16.00 – 16.20
Jolanta Sykut-Cegielska, Wanda Gradowska, Ewa Pronicka (Warsaw, Poland): Development and achievements of selective screening for inborn errors of metabolism in Poland 
16.20-16.40
Katrin Õunap (Tartu): Detection of inborn errors of metabolism in Estonia

16.40 – 17.00 Coffee break

17.00-17.20
Loreta Cimbalistiene (Vilnius, Lithuania), With M. Smirnova, D. Zamkauskiene, J. Kasnauskiene, V. Kucinskas, Management and results of mass neonatal screening in Lithuania
17.20-17.40
Rita Lugovska, Kruminska Z, Lace B, Vevere P, Muceniece Z,  Grauduma L, Kornejva A (Latvia):Detection of inborn errors of metabolism in Latvia
17.40-18.00
Tiiu-Mai Laht, Krabbi K, Kall K. (Tallinn, Estonia):
Amino and organic acid analyses in Estonia (preliminary title) 
Discussion, summary

30 April 2005 (Saturday)

Session III
Disorders of fatty acid oxidation
 Chairpersons: M. Krajewska-Walasek (to be confirmed), K. Õunap

9.00 – 9.45
M. Duran: Disorders of fatty acid oxidation – overview 
9.45 – 10.15
T. Tyni (Helsinki, Finland)
LCHAD deficiency – Finnish experience
10.15 – 10.35
J. Sykut-Cegielska (Warsaw): 
LCHAD deficiency – Polish experience
10.35-10.55
Dorota Piekutowska-Abramczuk, Popowska E., Jurkiewicz D., Kowalski P., Borucka-Mankiewicz M., Krajewska-Walasek M.,Sykut-Cegielska J, Pronicka E. (Warsaw): 
Molecular background of LCHAD deficiency in Poland
10.55 – 11.10
Riina Zordania (Tallinn):
LCHAD deficiency – case report (preliminary title)
11.10 – 11.40

        Coffee break

Session IV
Other inborn errors of metabolism 
Chairpersons:T. Tyni, R. Duran

11.40 – 12.25
Cornelis Jakobs (Amsterdam)
CSF investigations for the diagnosis of neurological (neurotransmiter) diseases
12.25 – 12.45
Katrin Õunap (Tartu), 
with I. Talvik, NG Abeling, PG Barth
Two brothers with aromatic L-amino acid decarboxylase deficiency
12.45 – 13.10
Maciej Adamowicz (Warsaw)
Congenital disorders of glycosylation
13.10-13.30
Radko Soucek (Prague)
Disorders of aminoacids: Diagnostic difficulties in a case of severe hyperammonemia
13.30-13.45
Zita Krumina, P Vevere, R Lugovska (Latvia)
Two patients with vit. B6 non-responsive homocystinuria – case report
13.45-14.00
Agnieszka Kowalik et al (Warsaw)
Long term dietary treatment of Polish patients with maple sirup urine disease (MSUD)
14.00 – 15.00

      Lunch

Session IV – part two
Other genetic disorders 
Chairpersons: J. Sykut-Cegielska, C. Jakobs

15.00 – 15.20
Dorota Jurkiewicz, Popowska E., Piekutowska-Abramczuk D., Kowalski P., Borucka-Mankiewicz M., Krajewska-Walasek M. (Warsaw):
Alagille syndrome: mutations in the JAGA gene in Polish patients
15.20 – 15.35
Kairit Joost (Tallinn):
A familial mitochondrial myopathy (preliminary title)
15.35-15.50
Paweł Kowalski, Piekutowska-Abramczuk D., Popowska E., Jurkiewicz D., Krajewska-Walasek M., Pronicka E. (Warsaw):
Molecular diagnostics of mitochondrial disorders
15.50-16.05 

Coffe break

Session V
Presentation and discussion on patients with unknown cause of the disease
Chairpersons: E. Pronicka, M. Duran

16.05 – 17.00
Short free communications of unknown cases (max 10 minutes) 
17.00 – 17.15

        Coffee break

Round table: Discussion of experts: 

17.20 – 18.20

How to improve detection of inborn errors of metabolism in population
(selective vs neonatal population screening)
Chairpersons: C. Jakobs, M. Duran

18.20 – 18.30 Closing remarks

Riia 23, Tartu 51010  |  Tel: +372 522 9126  |   E-mail: estshg[at]ebc.ee