Medical & Scientific Advisors

AЯRE is incredibly fortunate to have medical doctors and scientific advisors who are passionate about helping ASXL affected families. These advisors lead the ASXL registry, are subject matter experts on ASXL syndromes/research, and review/recommend potential research proposals.

 

 
 
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Dr. Bianca Russell

Dr. Bianca Russell received her bachelors degree from Connecticut College in New London, Connecticut in 2008 and her medical degree from the University of California, Irvine in 2013.  She completed her residency in Pediatrics and Human Genetics at the Cincinnati Children's Hospital in Cincinnati, Ohio and will be a Genetics attending at UCLA beginning in June of 2018.  She has focused her career and research on clinical genetics with a particular interest in the management of genetic conditions including Bohring-Opitz Syndrome. 

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Dr. Wen-Hann Tan

Dr. Wen-Hann Tan a clinical geneticist at Boston Children's Hospital with an interest in diagnosis and management of rare genetic syndromes, including pediatric cancer predisposition syndromes, vascular malformations, and other unusual clinical findings.  He has also been actively involved in a longitudinal natural history study and various clinical trials in Angelman syndrome, which is a rare neurodevelopmental disorder. 

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Dr. Feng-Chun Yang

Dr. Yang is an established investigator in the field of stem cell biology and myeloid malignancies.  She is a Professor of Biochemistry and Molecular Biology at the University of Miami, where her area of research is in molecular mechanisms involved in Genetic Disease and Cancer.  Dr. Yang has been studying the cellular and molecular mechanisms underlying the pathogenesis of BOS and myeloid malignancies.  The ultimate goal of her research is to identify novel therapeutic targets and to develop rational therapies to treat myeloid malignancies and BOS.  She has authored over 90 peer-reviewed papers in the field of research and is a member of several professional societies.  Dr. Yang also serves on the review boards for numerous professional journals and funding agencies.

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Dr. Stephanie Bielas

Dr. Bielas is an Assistant Professor in the Department of Human Genetics at the University of Michigan Medical School. Research in her lab focuses on discovering the genetic basis o human neurodevelopmental disorders and developing functional assays to validate the pathogenicity of deleterious alleles. Human neurogenetic findings provide a platform from which toe investigate molecular and developmental pathogenesis of associated disorders. In this endeavor, she uses human pluripotent stem cells (hPSCs) and mouse models. Her lab identified de novo dominant truncating variants in the ASXL3 (Additional-sex combs like 3) as the genetic basis of Bainbridge-Ropers Syndrome (BRS) and dysregulation of histone H2A mono-ubiquitination as key molecular pathology in patient derived cells. Her research is providing important insight into the impact of clinically relevant pathogenic ASXL3 variants on brain and heart development.