|
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 schizophrenia and 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 |
