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Vandana Shashi

Vandana Shashi

Professor of Pediatrics, Duke University Health Sciences
As a clinical geneticist for more than twenty years, I have worked with children and adults with various presentations of genetic disorders. I am passionate about diagnosis and treatment of ultra-rare genetic disorders. When the diagnosis is not readily apparent, I have observed families invest inordinate amounts of effort, time and finances in an attempt to obtain a diagnosis. The majority of such undiagnosed patients (~85%) are thought to have an unidentified genetic disorder. As the PI of the Duke/Columbia clinical site for the Undiagnosed Diseases Network (UDN), funded by the NIH I evaluate patients with undiagnosed diseases and apply next generation sequencing to obtain diagnoses. I also run the Duke genome sequencing clinic. In both settings, ultra-rare genetic disorders are diagnosed, with many being previously unrecognized. I have delineated the phenotype and genetics of many genetic syndromes, all listed in OMIM, such as, a new neurodevelopmental disorder with severe epilepsy NACC1 [OMIM#617393] a unique X-linked mental retardation syndrome (Shashi X-linked mental retardation syndrome [OMIM# 300238], Shashi-Pena syndrome, due to truncating variants in ASXL2 [OMIM#617190].
In addition to the experience in undiagnosed diseases, I have a commitment to treatment of ultra-rare diseases utilizing the precision medicine paradigm. Many of the patients I see have severe neurodevelopmental syndromes. I was involved in the immediate institution of targeted treatment for two children with a KCNT1 gain of function variant and in the early diagnosis and treatment of a child with a riboflavin transporter defect who has shown dramatic response to therapy.
In addition to the experience in undiagnosed diseases, I have been a clinical researcher for many years, with an interest in other genetic disorder: chromosome 22q11.2 deletion syndrome (22q11DS). I have conducted studies of neuroimaging and behavior in 22q11DS.
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