Tuesday, October 12, 2021

Human Genetics 2021 Seminar Series

3:00 PM to 4:00 PM

Zoom Meeting ID: 947 5800 7294
Passcode: 900076

Andrew Dauber, MD MMSc presents "Genetic Insights into the Evaluation and Treatment of Short Stature".

Andrew Dauber, MD MMSc
Chief of Endocrinology
Children’s National Hospital
Washington, D.C.

Sally Camper, Ph.D.
Margery Shaw Distinguished University Professor of Human Genetics
Professor of Internal Medicine
University of Michigan

Andrew Dauber, MD MMSc

Andrew Dauber, M.D.

Chief of endocrinology at Children’s National Hospital in Washington, D.C.

Andrew Dauber, MD, is the chief of endocrinology at Children’s National Hospital in Washington, D.C.

He is an exceptional clinician-scientist who has successfully applied innovative genetic technologies to pediatric endocrinology and with friendly international collaborations his discoveries made major contributions to our understanding of the regulation of growth and puberty.

In 2013, he discovered by whole-exome sequencing (WES) in families with central precocious puberty the first human mutations in MKRN3. MKRN3 mutations have since been confirmed as the most frequent genetic cause of precocious puberty worldwide. More recently, he showed by genome sequencing that a deletion in another paternally expressed imprinted gene, DLK1, was also responsible for precocious puberty.

In 2014, he identified by WES in families with short stature and advanced bone age, novel heterozygous variants in ACAN, which encodes aggrecan, a proteoglycan in the extracellular matrix of growth plate. Again, this has been confirmed recently to be a relatively frequent cause of short stature. Dr. Dauber led a large international collaboration that reviewed the genotypic and phenotypic spectrum of ACAN deficiency in a cohort of 103 individuals.