Carrier detection for Tay-Sachs disease: A model for genetic disease prevention


Tay-Sachs disease is a severe neurodegenerative disorder caused by the profound deficiency of the lysosomal hydrolase beta-hexosaminidase A. Enzyme activity and molecular testing are used for diagnostic confirmation in symptomatic patients or for detection of carrier status in at risk populations. Here, we discuss the population-based screening for the Tay-Sachs disease, and its impact on disease incidence.

Originally presented on August 23, 2014, in Salt Lake City, Utah.

Lecture Presenter

Irene De Biase, MD, PhD

Irene De Biase, MD, PhD

Assistant Medical Director, Biochemical Genetics Laboratory
ARUP Laboratories
Assistant Medical Director, Newborn Screening Laboratory
ARUP Laboratories
Assistant Professor of Pathology
University of Utah School of Medicine

Dr. De Biase is the assistant medical director of the Biochemical Genetics and Newborn Screening laboratories at ARUP and an assistant professor of pathology at the University Of Utah School Of Medicine. Dr. De Biase received her MD and PhD in cellular and molecular genetics at the Federico II University in Naples, Italy. She served as a postdoctoral fellow in molecular genetics at the University of Oklahoma Health Sciences Center and as a postdoctoral fellow in clinical biochemical genetics at the Greenwood Genetics Center in South Carolina. She was a recipient of the SERGG student travel award and SIMD student travel award and is a member of the Society for Inherited Metabolic Disorders. Dr. De Biase’s research interests include lysosomal storage disorders and fatty acid oxidation disorders. Dr. De Biase is board certified in clinical biochemical genetics.


After this presentation, participants will be able to:

  • Review the clinical characteristics and the biochemical features of Tay-Sachs Disease.
  • Describe the population-based screening for Tay-Sachs disease and its impact on disease incidence.
  • Explore the unique challenges in carrier testing for Tay-Sachs disease.

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories