Labs & Researchers

Pankaj Agrawal, MD, MMSc
Congenital myopathies; newborn medicine

Alan Beggs, PhDAlan Beggs, PhD
Genetics of congenital myopathies; Director, Manton Center for Orphan Disease Research

Gerard Berry, MD
Galactosemia, metabolic disorders; Director, Metabolism Program

Olaf Bodamer MD PhDOlaf Bodamer, MD, PhD, FACMG, FAAP
Lysosomal storage disorders, newborn screening and genetics of prematurity; Associate Chief, Division of Genetics and Genomics

Hanna Gazda, MD, PhD
Genetics and pathogenesis of Diamond-Blackfan anemia

Vandana Gupta, PhD
Congenital myopathies

Emanuela Gussoni, PhD
Cell-based therapy for muscular dystrophy

Maxwell Heiman, PhD
The genetic basis of neuronal shape and connectivity 

Ingrid Holm, MD, MPHIngrid Holm, MD, MPH
Endocrine genetics; genetics of complex pediatric diseases (autism, sudden infant death syndrome, sudden unexplained death in childhood); returning genetic results to patients; Director, Phenotyping Core

Louis Kunkel, PhDLouis Kunkel, PhD
Genetics of muscular dystrophies, autism and interstitial cystitis

Harvey LevyHarvey Levy, MD
Newborn screening for metabolic disorders; phenylketonuria; urea cycle disorders

Kyriacos Markianos, PhD
Genetic studies in humans and model organisms

David Miller MD PhDDavid Miller, MD, PhD
Genetics of autism spectrum disorder, neurofibromatosis and progeroid laminopathies

Ganesh Mochida, MD

Edward Neilan, MD, PhD
Cockayne syndrome

Jonathan Picker, MBChB, PhD
Neurogenetics of behavioral disorders including schizophrenia and Fragile X syndrome

Amy Roberts, MDAmy Roberts, MD
Genetics of congenital heart disease; Director, Cardiovascular Genetics Research Program

Wen-Hann Tan, BMBS
Angelman syndrome

Christopher Walsh, MD PhDChristopher Walsh, MD, PhD
Genetics of the developing cortex, autism and microcephaly; Chief, Division of Genetics and Genomics

Timothy Yu MDTim Yu, MD, PhD
Genetics of autism, cortical malformations

Affiliated researchers

Elizabeth Engle, MD
Genetics of congenital eye-movement disorders

Joel Hirschhorn, MD, PhD
Genetics of obesity, height and other complex traits and diseases

Isaac Kohane, MD, PhD
Bioinformatics; Chair, Informatics Program