Identifying genes for Mendelian and complex diseases

Hearing Loss

Retinal Disorders

Cardiovascular risk factors for stroke

Birth Defects

Cleft lip/palate

Clubfoot

• Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations
• Multi-Ethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI
• Sequencing of candidate genes in Dominican families implicates both rare exonic and common non-exonic variants for carotid intima-media thickness at bifurcation
• Relationship between sirtuin and mitochondrial uncoupling protein genes and carotid artery stiffness
• Folate pathway and nonsyndromic cleft lip and palate.
• A homozygous mutation in LTBP2 causes isolated microspherophakia.
• Fitness among individuals with early childhood deafness: studies in alumni families from Gallaudet University.
• Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics.
• Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care.
• List of Publications

Susan Halloran Blanton, Ph.D., is the Associate Director, Collaborations and Compliance, at the John P. Hussman Institute for Human Genomics, and has been involved in research focused on the mapping of genes for Mendelian and complex diseases forover three decades. Dr. Blanton, who is also a Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and the Department of Otolaryngology, has studied the genetics of a variety of disorders and conditions that include deafness, retinal disorders, skeletal dysplasias, stroke and its risk factors, cleft lip/palate, and clubfoot and has identified over two dozen genes for these disorders. She has a long standing interest in ethics and public policy regarding genetic testing. For example, she participated in a Chicago Law Roundtable regarding genetic testing in children, studied the level of genetic knowledge and attitudes towards genetic testing among the deaf and was a collaborator on an ELSI (Ethical, Legal and Social Implications) Research Program of the National Human Genome Research Institute where she provided genetic education to federal and appellate level judges and science writers.   Dr. Blanton was the Project Manager for the Genomedical Connection, a congressionally mandated program for integrating genomic medicine into primary care based in North Carolina.  Dr. Blanton plays an active role in education; she teaches the introductory course for human genetics and genomics on family based approaches to gene discovery.  Dr. Blanton received her Ph.D. in Human Genetics from Virginia Commonwealth University/Medical College of Virginia. She also completed postdoctoral training in Biostatistics (University of Pittsburgh) and Population Oncology (Fox Chase Cancer Center, Philadephia, PA).