Michael J Gambello, MD, Ph.D.
Professor of Human Genetics and Pediatrics
Division of Medical Genetics
Office: Whitehead 305G
Additional Contact Information
Emory University School of Medicine
615 Clifton Road NE
Atlanta, GA 30322
BiographyI serve as the Section Chief of the Division of Medical Genetics, coordinating the wide spectrum of genetic services at Emory and actively expanding the Division to provide timely and state of the art genetic care (http://genetics.emory.edu/patient-care). My clinical responsibilities include the diagnosis and care for children and adults with birth defects, lysosomal storage diseases and inborn errors of metabolism. Teaching medical students, genetic counseling students and medical residents is another important aspect of my responsibilities. I also serve as the program director for the ACGME accredited medical genetics residency program and am a member of the ABMG. I completed my Pediatric Residency at St. Louis Children’s Hospital/Washington University and clinical genetics training in the Metropolitan Washington DC Medical Genetics Residency Program. My first faculty position was at the University of Texas Health Science Center in Houston in the Division of Medical Genetics/Department of Pediatrics. When not wearing a clinical or administrative hat, I am engaged in studying the neurogenetic disorder tuberous sclerosis complex or working on new gene discovery projects.
My primary interest is the autosomal dominant disorder tuberous sclerosis complex (TSC), a neurogenetic disorder affecting 1/6000 people. TSC causes substantial morbidity and mortality due to seizures, intellectual disability, and autism spectrum disorders (ASD). We have developed several mouse models of TSC that we have used to study the pathophysiology, as well as test novel treatment strategies. We are especially interested in the association of TSC and ASD, and are trying to elucidate some of the important pathways that are common to both disorders. Such strategies might reveal new targets for pharmacotherapy.
I also have a keen interest in identifying new Mendelian neurodevelopmental disorders using whole exome sequencing (WES) in our clinical molecular laboratory (http://genetics.emory.edu/egl/). We have formed a personal genomic medicine group that collects and reviews cases for WES. Our rich clinical population has already provided a number of cases that we are currently sequencing.
- BS, Massachusetts Institute of Technology, 1981-1985
- MD, PhD, University of Rochester School of Medicine and Dentistry, 1985-1993
- Pediatrics Internship and Residency, St. Louis Children's Hospital, 1993-1996
- Clinical Genetics Residency, Metropolitan Washington DC Medical Genetics, 1996-1999
- American Board of Medical Genetics – Clinical and Medical Biochemical Genetics
- View publications on PudMed
Chevere-Torres I, Kaphzan H, Bhattacharya A, Kang A, Maki JM, Gambello MJ, Arbiser JL, Santini E, Klann E. Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the dRG mouse model of tuberous sclerosis complex. Neurobiol Dis 45(3):1101-10, 2012
Reith RM, Way S, McKenna J 3rd, Haines K, Gambello, MJ, Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration. Neurobiol Dis. 43(1):113-22. 2011.
Zeng LH, Rensing NR, Zhang B, Gutmann DH, Gambello MJ, Wong M. Tsc2 gene inactivation causes a more severe epilepsy phenotype thanTsc1 inactivation in a mouse model of tuberous sclerosis complex. Hum Mol Genet 20: 445-54, 2011
Abe N, Borson SH, Gambello MJ, Wang F, Cavalli V. Mammalian target of rapamycin (mTOR) activation increases axonal growth capacity of injured peripheral nerves. J. Biol Chem 285:28034-43, 2010
Kim S, Lehtinen MK, Sessa A, Zappaterra MW, Cho SH, Gonzalez D, Boggan B, Austin CA, Wijnholds J, Gambello MJ, Malicki J, LaMantia AS, Broccoli V, Walsh CA. The apical complex couples cell fate and cell survival to cerebral cortical development. Neuron 66(1);69-84, 2010.
Cao J, Gong L, Guo DC, Mietzsch U, Kuang SQ, Kwartier CS, Safi H, Estrera A, Gambello MJ, Milewicz DM. Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice. Hum Mol Genet [Epub ahead of print] 2010.
Vendola C, Canfield M, Daiger SP, Gambello M, Hashmi SS, Noblin SJ, Waller DK, Hecht JT. Survival of Texas infants born with trisomies 21, 18, and 13. Am J Med Genet A.152A(2):360-6, 2010.
Adhikari D, Flohr G, Gorre N, Shen Y, Yang H, Lundin E, Lan Z, Gambello MJ, Liu K. Disruption of Tsc2 in oocytes leads to overactivation of the entire pool of primordial follicles. Mol Hum Reprod 15(12); 765-70, 2009.
Defant J, Gambello MJ, Monga M, Langlois PH, Noblin SJ, Vidaeff AC. Fetal trisomy 21 and the risk of preeclampsia. J Matern Fetal Med. 23(1):55-9, 2010.
Way SW, McKenna J, Mietzsch U, Wu HC and Gambello MJ. Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse. Hum Mol Genet. 18(7): 1252-65, 2009.