Vandana Shashi, MD

Dr. Shashi is the principal investigator for the UDN at Duke University and serves as the co-chair of the UDN steering committee. She will be evaluating UDN patients as a lead physician for the Duke site. 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).  

Priya Kishnanai, MD

Dr. Kishnani is a co-Investigator for the UDN at Duke University and will assist with and provide consultations for metabolic patients. Dr. Kishnani earned her MBBS at Topiwala National College in Bombay and completed her pediatric residencies at Bombay University and Duke University Medical Center. Dr. Kishnani holds certifications from the American Board of Medical Genetics, Clinical Biochemical Genetics; and the American Board of Medical Genetics, Clinical Genetics. She is a professor of pediatrics and chief of the Division of Medical Genetics. She is an expert in designing clinical trials for treatments of rare diseases, and designed the first clinical trials using Myozome to treat Pompe disease. Myozome received FDA approval for the treatment of Pompe disease in 2006. Her other research interests include glycogen storage disease, lysosomal storage diseases, Down syndrome, the management and treatment of metabolic disorders, urea-cycle disorders, and mitochondrial disease. 

Yong-Hui Jiang, MD, PhD

Dr. Jiang is a co-Investigator for the UDN at Duke University and sees patients as a lead physician. Dr. Jiang earned his MD at Shanghai Medical University and his PhD in molecular and human genetics at Baylor College of Medicine. He completed his medical residency at Texas Children’s Hospital, Baylor College of Medicine. Following his residency, he pursued the fellowship in clinical genetics and metabolism at Baylor College of Medicine. Dr. Jiang holds certifications from the American Board of Medical Genetics and Genomics, Medical Biochemical Genetics; the American Board of Medical Genetics, Pediatric Genetics; and the American Board of Pediatrics, General Pediatrics. Dr. Jiang is a  professor of pediatrics in the Division of Medical Genetics, and professor of medicine in the Division of Neurobiology at Duke University. Dr. Jiang’s clinical interests include clinical and metabolic genetics, evaluation and treatment of metabolic disorders, neurometabolic and neurodevelopment disorders such as autism and intellectual disability, and genomic imprinting disorders such as Angelman and Prader-Willi syndrome. 

Allyn McConkie-Rosell, PhD

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

Sarah Young, PhD

Dr. Young is a co-investigator for the UDN at Duke University. She received her PhD from the Institute of Child Health, University College London and is currently the director of the Biochemical Genetics Lab and an assistant professor of pediatrics in the Division of Medical Genetics. The Duke Biochemical Genetics Lab is a mass spectrometry laboratory which can perform diagnostic testing for metabolic errors such as acylcarnitine profile, S-sulfocysteine, Hex4 analysis, and DNA testing for fatty acid oxidation disorders. 

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 will be one of the primary points of contact for patients who visit the Duke clinical site, assisting with the initial reviews, organizing the schedule of events for the week, following-up after families leave Duke and providing genetic counseling throughout the process.

Rebecca Spillmann, MS, CGC

Rebecca Spillmann is a genetic counselor in the Department of Pediatrics in the 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 visit the Duke clinical site, reviewing and summarizing participant medical histories, assisting with interpreting and returning results and providing genetic counseling throughout the process.

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.

Nicole Daniels, MS

Nicole Daniels is a senior clinical research specialist in the Department of Pediatrics, Division of Medical Genetics, at Duke University. She received her MS degree from East Carolina University. Nicole assists families in obtaining medical records and in making travel arrangements.

 

Queenie Tan, MD, PhD

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.

Heidi Cope, MS, CGC

Heidi Cope 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. Heidi is one of the primary points of contact for participants who visit the Duke clinical site, reviewing and summarizing participant medical histories, assisting with interpreting and returning results and providing genetic counseling throughout the process.

David B. Goldstein, PhD

Columbia University
 

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. 

 

Nick Stong, PhD
Columbia University

 

Dr. Nicholas Stong is a computational biologist at the Institute for Genomic Medicine at Columbia.  He received his doctorate in genomics and computational biology from the Perelman School Medicine at the University of Pennsylvania.  He analyzes genetic data to filter and prioritize variants of interest and works on developing novel methods to score and better understand genetic variation.