Advances in Diagnosis and Treatment of Alagille Syndrome
- Registration Closed
Alagille syndrome (ALGS) is a multi-system autosomal dominant disorder that often presents with neonatal cholestasis. First described over 50 years ago by Daniel Alagille, this complex syndrome is caused by mutations in JAG1 or NOTCH2, encoding components of the Notch signaling pathway. Ongoing research has led to a number of important recent advances in our understanding of ALGS. Specifically, this webinar will focus on the state-of-the-art in genomic diagnostics (presented by Drs. Nancy Spinner and Melissa Gilbert), multi-center studies of disease outcome (presented by Dr. Binita Kamath) and new therapeutic options (presented by Dr. Saul Karpen). The moderator, Dr. Kathleen Loomes, will summarize how our knowledge of the genetics and pathophysiology of ALGS might lead to new therapies.
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Kathleen Loomes, MD (Moderator)
Co-Director of the Fred and Suzanne Biesecker Pediatric Liver Center
Children's Hospital of Philadelphia
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Melissa Gilbert, PhD
Manager, Translational Research
Children's Hospital of Philadelphia Research Institute
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Nancy Spinner, PhD, FACMG
Chief of the Division of Genomic Diagnostics
Children's Hospital of Philadelphia
![Speaker image](https://9ef7e76e59610900d7b1-c324877e61276122bca2ac5614a5d2e2.ssl.cf2.rackcdn.com/naspghn_3060eaaae4483c9bfb80392c9e004898.jpg)
Binita Kamath, MBBChir, MRCP, MTR
The Hospital for Sick Children
![Speaker image](https://9ef7e76e59610900d7b1-c324877e61276122bca2ac5614a5d2e2.ssl.cf2.rackcdn.com/naspghn_fe2f91782cb6758216f84ad998114728.jpg)
Saul J. Karpen MD PhD, FAASLD
Raymond F. Schinazi Distinguished Biomedical Chair Professor of Pediatrics
Division Chief, Pediatric Gastroenterology, Hepatology and Nutrition Emory University School of Medicine & Children's Healthcare of Atlanta
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