Our Investigators

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Our Investigators

RESEARCHER

FOCUS AREA

Alan Beggs, PhD

congenital myopathies, a group of diseases that result in muscle weakness

Gerard Berry, MD

the development of diagnostic tests and treatment strategies for the metabolic disorder galactosemia

Hanna Gazda, MD, PhD

the genetics and molecular pathogenesis of Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome

Emanuela Gussoni

muscle stem cells

Maxwell Heiman, PhD

the genetic basis of neuronal shape and connectivity

Joel Hirschhorn, MD, PhD

the genetic basis of human height and weight, as well as other complex traits and diseases

Ingrid Holm, MD, MPH

the genetics of complex pediatric diseases including autism, sudden infant death syndrome (SIDS) and sudden unexplained in childhood (SUDC)

Mira Irons, MD

neurofibromatosis and the cholesterol deficiency Smith-Lemli-Opitz syndrome

Louis Kunkel, PhD

the muscular dystrophies; the genetics of autism and interstitial cystitis

Harvey Levy, MD

newborn screening for metabolic disorders; the development of treatment strategies for phenylketonuria and the urea cycle disorders

David T. Miller, MD, PhD

uncovering the genetic basis of autism spectrum disorders, neurofibromatosis, and progeroid laminopathies by genetic testing

Edward Neilan, MD PhD

Cockayne syndrome

Jonathan Picker, MBChB, PhD

the neurobiology of behavioral disorders including schizophreniaand Fragile X syndrome

Amy E. Roberts, MD

the genetics of congenital heart disease

Wen-Hann Tan, BMBS

Angelman syndrome

Christopher A. Walsh, MD, PhD

the development and function of the human cerebral cortex; the genetic basis of autism and microcephaly

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The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
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