Advances in Diagnosis and Treatment of Alagille Syndrome LIVE Webinar (On Demand available)

February 8, 2021
8:00 PM ET

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.

Upon completion of this activity, participants should be better able to:

  • To define Alagille Syndrome and its clinical manifestations
  • To understand the current state of the art in genetic diagnosis for ALGS, including the strengths and limitations of diagnostic modalities including next generation sequencing panels, whole exome and whole genome sequencing.
  • To discuss the role of genetic modifiers in liver disease severity in ALGS.
  • To understand variability in clinical presentations in patients presenting with JAG1 and NOTCH2 mutations.
  • To understand how multi-center studies have contributed to the understanding of the natural history and outcomes in ALGS.
  • To review current therapies for ALGS and recently published studies on the novel Apical Sodium-dependent Bile Acid Transport inhibitors in this population.
  • To discuss how a better understanding of ALGS pathophysiology and Notch pathway function can lead to the development of novel targeted therapeutics.

Supported by educational grants from Mirum Pharmaceuticals, Albireo and Retrophin.



The Association of Pediatric Gastroenterology and Nutrition Nurses
Help & Hope for Children with Digestive Disorders
Journal of Pediatric Gastroenterology and Nutrition
JPGN Reports