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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)

9.00 – 9.10 Katrin Õunap (Tartu): Opening remarks
9.10 – 9.20 Invitations from the national and academic authorities (Tartu, Estonia):
9.20 – 9.30 Ewa Pronicka (Warsaw): Introduction by the Centre of Excellence PERFECT’s co-ordinator

Session I

Metabolic medicine – past, present and future

9.30 – 10.30 Cornelis Jakobs (Amsterdam):
Inborn errors of metabolism (human knock out models) as experiment of nature: What can we learn?
Discussion
10.30 – 11.00 Toomas Kivisild (Tartu) 
Evolution of human mitochondrial genome: neutrality, natural selection and diseases
11.00 – 11.45 ?
Discussion
11.45 – 12.15 Coffee break
12.15 – 13.00 Marja Hietala (Turku, Finland) 
Finnish disease heritage: focus on metabolic disorders
Discussion
13.00 – 14.00 M. Duran (Amsterdam)
Tandem MS for neonatal screening – present and future
Tandem MS for neonatal screening and selective screening-present and future.
Discussion
14.00 – 15.00 Lunch

Session II

Early detection of inborn errors of metabolism by selective screening

15.00 – 15.45 (Praque, Czech Republic): – to be accepted
History, current approach and achievements in early detection of inborn errors of metabolism in Czech and Slovac Republics (including ERNDIM)
Discussion
15.45 – 16.30 Jolanta Sykut-Cegielska, Wanda Gradowska, Ewa Pronicka (Warsaw, Poland): 
Development and achievements of selective screening for inborn errors of metabolism in Poland 
Discussion
16.30 – 17.00 Katrin Õunap (Tartu, Estonia): Detection of inborn errors of metabolism in Estonia
Discussion
17.00 – 17.20 Coffee break
17.20 – 18.00 Lecturers – to be chosen
Detection of inborn errors of metabolism in Lituania and Latvia
Discussion

30 April 2005 (Saturday)

Session III

Disorders of fatty acid oxidation

9.00 – 9.45 M. Duran: Disorders of fatty acid oxidation – overview 
Discussion
9.45 – 10.15 T. Tyni (Helsinki, Finland), LCHAD deficiency – Finnish experience
10.15 – 10.45 Dorota Piekutowska-Abramczuk (Warsaw), LCHAD deficiency – Polish experience
10.45 – 11.15 Free communications
11.15 – 11.30 Coffee break

Session IV

Other inborn errors of metabolism 

11.30 – 12.15 Cornelis Jakobs (Amsterdam) 
CSF investigations for the diagnosis of neurological (neurotransmiter) diseases
12.15 – 12.35 Katrin Õunap (Tartu), 
with I. Talvik, NG Abeling, PG Barth
Two brothers with aromatic L-amino acid decarboxylase deficiency
12.35 – 13.00 Maciej Adamowicz (Warsaw)
Congenital disorders of glycosylation
13.00 – 13.30 Elizabeth Holme (Göteborg) – to be accepted
Tyrosinaemia type I – influence of early detection on prognosis 
13.30 – 14.00 Polish communications on hyparammonaemias, Nijmegen syndrome, SLO, SURF1
Other free communications presented by participants
14.00 – 15.00 Lunch

Session V

15.00 – 18.00 Presentation and discussion on patients with unknown cause of the disease 

18.00 – workshop closing

Riia 23, Tartu 51010  |  Tel: +372 7 375029  |   Fax: +372 7 420286  |   E-mail: estshg[at]ebc.ee