Category: GENE

A recent story from CBS 17 highlights the journey of Dr. Kim Stephens and her family’s experience living with Hunter syndrome (MPS II). The article also features ongoing research efforts at the UNC School of Medicine focused on developing new treatment approaches for rare genetic disorders.

Joseph Muenzer, MD, PhD, leads research on groundbreaking therapy that offers hope for patients across the world living with a devastating genetic disorder. Ongoing clinical research at UNC could lead to a first-of-its-kind enzyme replacement therapy for Hunter syndrome, an ultra-rare disorder that causes progressive multisystem disease and neurologic decline.

The Center for Molecular Medicine (CMM), formerly the UNC Gene Therapy Center, launched a new effort to give potential Einsteins a foot in the door. The newly revamped Center, located in the Thurston Bowles Building, is buzzing with undergraduates and high school students looking to get a head start on...

Mary Clay Federspiel, MSN, CPNP-PC, joined the Muenzer MPS center in the Pediatric division of Genetics & Metabolism as an Advanced Practice Practitioner on December 15, 2025. Ms. Federspiel completed a Bachelor of Science at William & Mary in 2006 and a BSN at the University of North Carolina at...

Dr. Williams joined the Department of Pediatrics as an Assistant Professor on August 1, 2025. She began her education at the August Cieszkowski Agricultural University in Poznan, Poland with a degree in Food Technology and Human Nutrition. She earned her medical degree at the Nicolaus Copernicus University, Ludwik Rydygier Collegium...

Dr. Crenshaw joined the Department of Pediatrics as an Assistant Professor on July 15, 2025. She received her BA from Davidson College in 2013. She earned her medical degree at the University of North Carolina at Chapel Hill in 2020. She completed her residency in Pediatrics - Medical Genetics &...

New knowledge of these protein functions will help researchers develop new drug targets for chronic pain, autism spectrum disorders, epilepsy, migraines, and other neurological conditions.

Sam Young, Jr., PhD, Roper Investigator, Professor of Pediatrics, and Director of the UNC Gene Therapy Center, has been elected to his second one-year term on the Technical Activities Committee (TAC) of the National Institute for Innovation in Manufacturing Biopharmaceuticals (NIIMBL). NIIMBL is a public-private partnership dedicated to accelerating biopharmaceutical...

Several pediatrics faculty were recently selected to receive UNC-Chapel Hill Junior Faculty Development Awards for 2025. The Junior Faculty Development Awards are funded by IBM and R. J. Reynolds Industries, Inc. This award grants $10,000 to support scholarly pursuits over one calendar year.

Coltrane Beck-Chance joined Genetics and Metabolism on February 10, 2025. Mr. Beck-Chance received his Bachelor's degree from the University of North Carolina at Greensboro in December of 2019. He received his MS in Genetic Counseling from the University of North Carolina at Greensboro in 2024. Welcome!