Dr. Shashi is the principal investigator for the UDN at Duke University. She evaluates UDN patients as a lead physician and geneticist for the Duke site. Under her leadership, the Duke site discovered several new disease genes, such as ASXL2 and NACC1, as well as achieving high rates of diagnoses. She is a member of the UDN executive committee and has served as the co-chair of the UDN steering committee. After receiving her MBBS degree, she went on to earn an MD in pediatrics from Kasturba Medical College, India. She also completed pediatric residencies at the Royal Aberdeen Children’s Hospital, UK and Bowman Gray School of Medicine, USA. After completing her residencies, she was awarded a clinical genetics fellowship at the University of Virginia. Dr. Shashi holds a certification from the American Board of Medical Genetics and Genomics, Clinical Genetics. She is a professor of pediatrics in the Division of Medical Genetics. Dr. Shashi’s clinical interests include the diagnosis of undiagnosed and rare disorders, exploring therapeutic options for such disorders and medical management of chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome and velocardiofacial syndrome).
Edward C. Smith, MD attended the University of North Carolina at Chapel Hill and received his MD degree from the University of Mississippi Medical Center where he was also a resident in pediatrics. In 2004, he moved to Duke University where he completed his residency in pediatric neurology and a fellowship in neuromuscular medicine at Duke University. He has served as a faculty member in the Department of Pediatrics (Neurology) since 2007.
Dr. Smith’s clinical and research interests focus on neuromuscular disorders. He is co-director of the Duke Children’s Neuromuscular Program which provides comprehensive, multidisciplinary care to patients with muscle and nerve disorders. In addition to his clinical duties, Dr. Smith is actively involved in numerous clinical trials relevant to neuromuscular disorders.
Dr. McConkie-Rosell is a co-investigator for the UDN at Duke University. She manages clinical site processes as well as develops research on patients’ and parents’ perceptions of the UDN process and the psychosocial effects of living with an undiagnosed condition. Dr. McConkie-Rosell earned her master’s degree in social work from University of Arkansas-Little Rock and her doctorate from the University of North Carolina at Chapel Hill. Dr. McConkie-Rosell, is a professor, specializing in pediatric medical genetics. Her research interest is on exploring how families manage genetic information with the goal of identifying genetic counseling strategies to facilitate their positive adaptation, coping, and use of information.
“Duke’s participation in this network and our prior experience with rare disorders will enable us to provide diagnostic resolution, information relevant to other family members and potentially new treatment options to many such patients and their families.”
Box 103857, Duke University Medical Center, Durham, NC 27710 | Tel: 919 668 1340
Duke University Medical Center
Kelly Schoch, MS, CGC
Kelly Schoch is a genetic counselor in the Department of Pediatrics, Division of Medical Genetics, at Duke University. She received her MS in genetic counseling from the University of North Carolina Greensboro and is certified by the American Board of Genetic Counseling. Kelly is one of the primary points of contact for patients who enroll in the UDN at the Duke clinical site, providing support and genetic counseling throughout the process. Kelly serves as a co-chair for the UDN Genetic Counseling and Testing working group. She has been a genetic counselor at Duke since 2008 and helped launch the UDN at Duke in 2014.
Rebecca Spillmann, MS, CGC
Rebecca Spillmann is a genetic counselor in the Department of Pediatrics, Division of Medical Genetics, at Duke University. She received her MS in genetic counseling from the University of North Carolina Greensboro and is certified by the American Board of Genetic Counseling. Rebecca is one of the primary points of contact for participants who enroll in the UDN at the Duke clinical site, providing support and genetic counseling throughout the process. She has been a genetic counselor at Duke since 2013 and helped launch the UDN at Duke in 2014.
Nicole Walley, MS
Nicole Walley is a clinical research coordinator in the Department of Pediatrics, Division of Medical Genetics, at Duke University. She received her MS in biology at Duke University and is also a trained phlebotomist. Nicole coordinates patient visits and lab work and is available to assist patients and families during the week of their visit at Duke.
Dr. Tan is a medical geneticist for the UDN at Duke University and sees patients as a lead physician.She received her MD at Brown University and PhD in molecular biology at Yale University. Her medical residencies in pediatrics and clinical genetics were completed at Duke University, prior to completing fellowship in clinical biochemical genetics at the University of Wisconsin-Madison. Dr Tan is board certified by the American Board of Pediatrics in General Pediatrics and the American Board of Genetics and Genomics in Clinical Genetics and Clinical Biochemical Genetics. She is a consulting associate in the Division of Medical Genetics. Her clinical interests include metabolic genetics and general genetics.
David B. Goldstein, PhD
Dr. Goldstein is a co-Investigator for the UDN at Columbia University and will provide... He received his PhD from Stanford University and is currently the director of the Institute for Genomic Medicine. Dr. Goldstein’s research focuses on many aspects of human genetic variation including human genetic diversity, the genetics of disease, and pharmacogenetics. First at Duke University and now at Columbia University, his group, along with large networks of collaborators, have been responsible for a number of well-known discoveries including the gene responsible for Alternating Hemiplegia of Childhood and the role of the IL28B gene in treatment response to Hepatitis C infection. Dr. Goldstein has also been involved in some of the early applications of next generation sequencing in the study of undiagnosed diseases.