Human Genetics

Carolyn Schanen, M.D., Ph.D.
Laboratory Head
Director, Center for Applied Clinical Genomics

Major Research Interests:

Our research focuses on human neurodevelopmental disorders associated with deficits in higher cognitive and behavioral functions, including Rett syndrome and autism resulting from a duplication of chromosome 15 (isodicentric 15 or interstitial duplication 15). By dissecting pathogenesis of these disorders at genetic and cellular levels, we hope to gain insight into pathways used by the nervous system to achieve and maintain the elaborate interconnections required for the full spectrum of normal human behaviors and to explore the epigenetic pathways that regulate gene expression in the sympathetic nervous system. In addition, through understanding of the cellular mechanisms that are disrupted, we can better devise targeted therapeutic interventions for children affected by these disorders.

Current Projects:

• Autism and Chromosome 15 Duplications
• Molecular Analysis of Rett syndrome
• Familiality of Articulation Disorders

Current Research Group:

• Jennette Driscoll, BS - Jen Driscoll is performing detailed analyses of the types of duplications of chromosome 15 that can lead to autism, seizures, and cognitive impairment. She also is working on the Speech Genetics project in conjunction with Timothy Bunnell, PhD, Head of the Speech Research Laboratory, in the Nemours Center for Pediatric Auditory and Speech Sciences (CPASS).
• Andrea L. Ham, MS - Andrea Ham is involved in the characterization of the effects of Rett syndrome mutations on the function of the transcriptional silencer, MeCP2.
• Keping Hu, PhD - Dr. Hu is examining the cellular processes that activate or inactivate MeCP2, the protein mutated in children with Rett syndrome.
• Marvin Kendall, BS - Marvin Kendall is the lab manager for the Human Genetics and Neuroscience Research labs. He is involved with the development of molecular tools to assess the function of mutant Notch3 and MeCP2 proteins.
• Asmita Kumar, PhD - Dr. Kumar is investigating structure-function relationships for MeCP2 and testing novel therapeutics.
• Rose D. OConnor, BS - Rose OConnor is investigating the basis of osteoporosis in patients with Rett syndrome.
• N. Carolyn Schanen, MD, PhD

Contact Information:

Nemours Biomedical Research
Alfred I. duPont Hospital for Children
1600 Rockland Road
Wilmington, Delaware 19803

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Phone: (302) 651-6702
Fax: (302) 651-6767