Overview
Undiagnosed and rare diseases cause significant emotional and financial distress to patients who suffer from these and their families. Duke is one of seven clinical sites to be part of the NIH Undiagnosed Diseases Network (UDN). As a principal investigator for the Duke UDN site, I am involved in arranging detailed clinical evaluation for children and adults with undiagnosed diseases and in the interpretation of the genome sequencing that is performed as part of the initiative to obtain a diagnosis in these individuals. I also currently serve as the Co-Chair of the UDN steering committee.
Chromosome 22q11.2 deletion syndrome (also known as velocardiofacial or DiGeorge syndrome: particular interests are in understanding the learning disabilities and the high risk of mental illness in these children as they get older, for which a research study is ongoing. As a clinician and researcher in this area, I run a clinic for children and adults with 22q11.2 deletion syndrome and am an investigator within the International Brain and Behavior Consortium for 22q11.2 deletion syndrome. The goal of the consortium is to conduct research to understand the genetic underpinnings of the serious mental illnesses such as schizophrenia that occur in ~25% of adolescents and adults with the condition.
Chromosome 22q11.2 deletion syndrome (also known as velocardiofacial or DiGeorge syndrome: particular interests are in understanding the learning disabilities and the high risk of mental illness in these children as they get older, for which a research study is ongoing. As a clinician and researcher in this area, I run a clinic for children and adults with 22q11.2 deletion syndrome and am an investigator within the International Brain and Behavior Consortium for 22q11.2 deletion syndrome. The goal of the consortium is to conduct research to understand the genetic underpinnings of the serious mental illnesses such as schizophrenia that occur in ~25% of adolescents and adults with the condition.
Current Appointments & Affiliations
Professor of Pediatrics
·
2014 - Present
Pediatrics, Medical Genetics,
Pediatrics
Recent Publications
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
Journal Article BioData Mining · December 1, 2025 Background: The mechanistic pathways that give rise to the extreme symptoms exhibited by rare disease patients are complex, heterogeneous, and difficult to discern. Understanding these mechanisms is critical for developing treatments that address the under ... Full text CiteThe book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.
Journal Article J Genet Couns · February 2025 Ultra rare disorders are being diagnosed at an unprecedented rate, due to genomic sequencing. These diagnoses are often a new gene association, for which little is known, and few share the diagnosis. For these diagnoses, we use the term emerging-ultrarare ... Full text Link to item CiteDominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Journal Article Genet Med · September 2024 PURPOSE: We identified 2 individuals with de novo variants in SREBF2 that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestati ... Full text Link to item CiteRecent Grants
Developing strategies to identify candidate individuals for early genetic therapies
ResearchCo-Mentor · Awarded by National Institutes of Health · 2024 - 2029An integrated and diverse genomic medicine program for undiagnosed diseases
ResearchPrincipal Investigator · Awarded by National Institutes of Health · 2014 - 2028Duke Center for Advancement of Child Health (CAtCH).
Inst. Training Prgm or CMEMentor · Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development · 2021 - 2026View All Grants
Education, Training & Certifications
Kasturba Medical College (Manipal) ·
1986
M.D.
Kasturba Medical College (Manipal) ·
1983
M.B.B.S.