NBS Connect

NBS Connect Dr. Rani Singh Associate Professor and Director, Division of Medical Genetics, Nutrition Section, Emory School of Medicine   This project led to the development of NBS Connect, an internet-based registry and support network for parents and individuals with inborn errors of metabolism. The site was managed by staff from Emory University Department of […]

Mouse Model

Mouse Model Dr. Susan Hutson Wake Forest University   Dr. Hutson and colleagues developed a mouse model of Classic MSUD with the aim of understanding the molecular basis for the effects of MSUD on the central nervous system and body metabolism. They previously generated a mouse containing a knockout (KO) of the mitochondrial branched chain […]

Mouse Model

Mouse Model Dr. Harbhajan Paul University of Pittsburgh   In 2003 our organization funded the development of an animal model with MSUD. The mice model is being used today by several labs looking for alternative treatments for MSUD.

Zebrafish Models

Zebrafish Models Dr. Gerald Downes University of Massachusetts- Amherst   Dr. Gerald Downes from the University of Massachusetts- Amherst established zebrafish models for different types of MSUD. Zebrafish are useful models for studying the effect of high levels of branched-chain amino acids on brain development and for identifying therapeutic agents with the potential to treat […]