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Medical Genetics and Genomics

The Division of Medical Genetics and Genomics is dedicated to delivering comprehensive, compassionate, and innovative care to individuals and families affected by rare genetic and metabolic conditions. Under the leadership of Dr. Neena Champaigne, our collaborative team of clinical geneticists, biochemical geneticists, genetic counselors, a metabolic dietitian, and support staff provides expert care across the lifespan—from newborns to adults. We are committed to transforming uncertainty into understanding through personalized, family-centered services and an unwavering dedication to clinical excellence, education, and discovery.

Our wide range of services, delivered in both inpatient and outpatient settings, includes diagnostic evaluations and management of complex genetic and metabolic conditions. We participate in multidisciplinary specialty clinics, ensuring coordinated care with primary care providers and other medical specialists. Additionally, we offer newborn screening follow-up and a rapid genome sequencing program for critically ill children to ensure timely and accurate diagnoses. Our commitment to advancing medical knowledge is reflected in our cutting-edge clinical trials and collaborative research initiatives, striving to improve outcomes and treatment options for our patients.

Education is central to our mission. We provide training to the next generation of health care providers—medical students, residents, fellows, and genetic counseling students. Our faculty are actively engaged in curriculum development, mentorship, and national efforts to advance medical genetics education and improve access to genetic services.

Through innovation, service, and a passion for discovery, the Division of Medical Genetics and Genomics at MUSC is empowering patients, advancing genetics, and inspiring the future.

Our Faculty

Our Staff

Metabolic Dietician: 

  • Angela Pipitone Dempsey, RD, LD, CNSC

 

Genetic Counselors:

 

Genetic Assistants:

  • Kenzie Ohlin, BS
  • Lauryn Qualls, BS

Education/Training Programs

The Division of Medical Genetics and Genomics is active in educating genetic counseling students, medical students, residents, fellows and healthcare providers.  The Genetics elective is available to senior medical students through MUSC COM (PEDS 855 (2 weeks) and PEDS 871 (4 weeks). Residents and Fellows interact with the division through formal or informal consultation and in topic-oriented teaching sessions. The elective in Medical Genetics and Genomics gives the resident an opportunity to see inpatient and outpatient consultations.  Participation in clinical research by interested students and residents is encouraged. Dr. Kristen Lancaster is the Director for Medical Genetics Education. The division also provides clinical instruction for students enrolled in the Master of Science in Genetic Counseling Program through the College of Health Professions. Dr. Neena Champaigne is the Medical Director for the Master of Science in Genetic Counseling.

Research

Faculty within the Division of Medical Genetics and Genomics participate in a variety of research initiatives in collaboration with students, trainees and colleagues across the MUSC campus.  This work includes local investigator-initiated studies and multi-center clinical trials supported by industry, foundations and intramural sources. Investigators receive regulatory and coordinator support from The Department of Pediatrics’ Pediatric Research Group.

Clinical Trials

NCT05972629: Gene Therapy for Phenylketonuria

A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria

Pheby Study Information

Clinical Studies

At Home Urine Monitor for Phenylketonuria in collaboration with Clemson University and Circa Bioscience, LLC.

Other Genetic Specialty Services

Our services are integrated with the vast array of genetic specialty services available at MUSC Health:

Contact Us

MUSC Department of Pediatrics
Division of Medical Genetics and Genomics
135 Rutledge Avenue, MSC 207
Charleston, SC 29425
Phone: 843-876-8885
Fax: 843-985-9744

Email:  genetics@musc.edu