Research and innovation
The General Genetics Program works closely with the Genetics Division's research laboratories, headed by Dr. Louis Kunkel. These laboratories are devoted to the study of genes that underlie inherited disorders and the function of their encoded proteins. This relationship between the General Genetics Program and the laboratories facilitates the rapid transition of progress in the laboratory to clinical applications.
The research program of the Division has been very productive, starting with the early cytogenetic work of Drs. Park S. Gerald and Samuel A. Latt, followed by the landmark somatic cell hybrid work of Dr. Gail Bruns and the specific phage libraries of Dr. Latt. Both of these efforts were part of the foundations of the Human Genome Project and led to the later positional cloning success of the Division. These successes included isolating the gene for Duchenne Muscular Dystrophy, Aniridia/Wilms Tumor, two forms of Limb Girdle Muscular Dystrophy, Angelman syndrome, and a form of Nemaline Myopathy, just to name a few.
Recent work has centered on the genetics of extreme longevity (Dr. Kunkel), the pathogenesis of muscular dystrophies and myoptathies (Drs. Beggs and Kunkel), stem cell therapy of genetic diseases (Drs. Gussoni and Kunkel), cranial nerve involvement in eye muscle disorders (Dr. Engel), ancient conserved sequence motifs (Dr. Bruns) and disorders of cholesterol metabolism (Dr. Irons).
More information on our researchers and their research studies can be found below.
Latest Research in Genetics
|Alan Beggs, PhD||Genetics of neuromuscular disease|
|Gail Bruns, MD, PhD||WAGR Syndrome|
|Elizabeth Engle, MD||Congenital eye movement disorders|
|Emanuela Gussoni, PhD||Muscular dystrophy|
|Joel Hirschhorn, MD, PhD||Endocrine genetics|
|Ingrid Holm, MD, MPH||Endocrine genetics|
|Mira Irons, MD||Smith-Lemli-Opitz syndrome; Neurofibromatosis Type1|
|Louis Kunkel, PhD||Muscular dystrophy|
|Harvey Levy, MD||Biochemical disorders; Phenylketonuria (PKU)|
|Jonathan Picker, MBChB, MSC, PhD||Neurobiology of behavioral disorders; Fragile X syndrome|
|Christopher Walsh, MD||Development and function of the human cerebral cortex|