Developmental Genomics of Congenital Limb Malformations

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Ruizhi "Vince" Duan, MS, will discuss using family-based genomics and rare variant analyses to explore the developmental genomics of congenital limb malformations. Their investigation highlighted that allelic series and dosage effects contribute to the observed clinical variability. 

 

Overview of Presentation:

  • Novel variant identification facilitates the discovery of an allelic series. 
  • WNT10B dysfunction in an isolated split-hand/foot malformation
  • A proposed allele-specific gene dosage model for perturbation of BHLHA9 action
  • Evidence of founder alleles in multiple limb malformation phenotypes

 

Read the full paper here: Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Ruizhi "Vince" Duan, MS

PhD Candidate at Lupski Lab

Baylor College of Medicine

Ruizhi "Vince" Duan is a Ph.D. candidate in the Lupski lab at Baylor College of Medicine and a BCM-GREGoR Rare Disease Research Center trainee member. He received his M.S. in Diagnostic Genetics from the School of Health Professions at MD Anderson Cancer Center and was a certified cytogenetic technologist. His doctoral research explores the genetic etiologies of human developmental malformations and rare Mendelian diseases via large-scale family-based multimodal genome analyses. His publications mainly focus on uncovering novel disease-causing variants and mutational mechanisms in rare diseases. 

 

Mike Bamshad, MD (Moderator)

Editor-in-Chief of HGG Advances

Chief of the Genetic Medicine Division of the Department of Pediatrics at Seattle Children’s Hospital, University of Washington (UW), Director of the Center for Clinical Genomics, Principal investigator the UW Center for Mendelian Genomics

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May Journal Club
05/10/2023 at 12:00 PM (EDT)  |  Recorded On: 05/10/2023  |  30 minutes  |   Closed captions available
05/10/2023 at 12:00 PM (EDT)  |  Recorded On: 05/10/2023  |  30 minutes  |   Closed captions available May 2023 HGGA Journal Club
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