Session

17.03.2022     10:00–11:30

Titel:
Workshop 3
Clinical Genetics
Art:
Workshop
Raum:
Room 13

17.03.2022
10:00–11:30

Titel:
Workshop 3
Clinical Genetics
Art:
Workshop
Raum:
Room 13

10:00–10:15
W3-001 TRANSLATE-NAMSE: Improving care for people with rare diseases through the implementation of the National Action League for People with Rare Diseases
Heiko Krude (Berlin/DE), Monika Glauch (Tübingen/DE), Translate-NAMSE Konsortium (Berlin/DE)
Redezeit: 15 min

10:15–10:30
W3-002 More than 800 cases – an update on prenatal trio exome analyses
Martin Ritthaler (Tübingen/DE)
Redezeit: 15 min

10:30–10:45
W3-003 Secondary findings in patients undergoing exome and genome sequencing: Experience based on 12788 patients
Alexandra Liebmann (Tübingen/DE)
Redezeit: 15 min

10:45–11:00
W3-004 Blakemore-Durmaz-Vasileiou (BDV) Syndrome: a Novel Syndrome with Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome
Georgia Vasileiou (Erlangen/DE)
Redezeit: 15 min

11:00–11:15
W3-005 Loss-of-function variants in KIF21A cause autosomal recessive severe fetal akinesia with arthrogryposis multiplex
Ruth J. Falb (Tübingen/DE)
Redezeit: 15 min

11:15–11:30
W3-006 The autosomal recessive hearing loss gene LHFPL5 – a game changer for Mendelian rule?
Michaela Hofrichter (Würzburg/DE)
Redezeit: 15 min