Vandana Shashi, MD

Dr. Shashi is the principal investigator for the UDN at Duke University and will be seeing patients as a lead physician. She received her MBBS and MD in pediatrics from Kasturba Medical College. Her medical residencies were at Kasturba Medical College, Royal Aberdeen Children’s Hospital, and Bowman Gray School of Medicine. After completing her residencies, she was awarded a clinical genetics fellowship at the University of Virginia. Dr. Shashi holds certifications from the American Board of Medical Genetics, Clinical Genetics and the American Board of Pediatrics, General Pediatrics. She is  a pediatric medical geneticist and a professor of pediatrics in the Division of Medical Genetics. Dr. Shashi’s clinical interests include chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome and velocardiofacial syndrome), and the evaluation and management of children with birth defects, intellectual disabilities, and developmental delays. 

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 will be seeing 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. His medical residency was at Texas Children’s Hospital, Baylor College of Medicine. After completing his residency, he was awarded a fellowship in clinical genetics and metabolism at Baylor College of Medicine. Dr. Jiang holds certifications from the American Board of Medical Genetics, Medical Biochemical Genetics; the American Board of Medical Genetics, Pediatric Genetics; and the American Board of Pediatrics, General Pediatrics. Dr. Jiang is a pediatric medical geneticist at Duke University, an associate professor of pediatrics in the Division of Medical Genetics, and an associate professor of Medicine in the Division of Neurobiology. Dr. Jiang’s clinical interests include clinical and metabolic genetics, evaluation and treatment of metabolic disorders, neurometabolic disorders, and genomic imprinting disorders such as Prader-Willi syndrome. 

Allyn McConkie-Rosell, PhD

Dr. McConkie-Rosell is a co-investigator for the UDN at Duke University. She will be managing clinical site processes as well as assisting with research on patients’ perceptions of the UDN. 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 an associate research professor, specializing in pediatric medical genetics. Her research interests are genetic risk communication in childhood (e.g., when to inform families about risk and how to communicate the information to children), genetic testing in children, Fragile X syndrome, and genetic counseling (e.g., how to establish appropriate communication of genetic information with children as they develop).

 

“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, 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 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.

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 will be available to assist patients and families during the week of their visit at Duke and will be accompanying families throughout the clinical site process.

 

Camilla Enoch Sanders, BA

Camilla Sanders is a research technician in the Department of Pediatrics, Division of Medical Genetics, at Duke University. She received a BA in psychology from the University of North Carolina Greensboro. Camilla will be assisting families in obtaining medical records and making travel arrangements. 

 

 

Loren D.M. Pena, MD, PhD

Dr. Pena is a co-investigator for the UDN at Duke University and will be seeing patients as a lead physician. Dr. Pena earned her MD and PhD degrees at Northwestern University. Her medical residency in pediatrics and fellowship in clinical genetics were completed at the University of Chicago. Dr. Pena is board certified by the American Board of Pediatrics in General Pediatrics and the American Board of Medical Genetics in Clinical Genetics. She is an assistant professor of pediatrics in the Division of Medical Genetics. Her clinical interests are in general genetics and metabolism/metabolic disorders. She is a native Spanish speaker and is able to provide culturally-competent care to all of her patients.