Academic Background

Edward Ginns completed his PhD in Physical Chemistry at Rensselaer Polytechnic Institute in NY, and went on to receive his MD from Johns Hopkins School of Medicine.  Following a Medical Internship at Baltimore City Hospital, he trained in Neurology at Albert Einstein College of Medicine, NY.  In 1980 he joined the Developmental and Metabolic Neurology Branch, NINDS in Bethesda where he became a tenured Senior Investigator Neurologist in the Molecular and Medical Genetics Section.  In 1986 Dr. Ginns transferred to NIMH as Chief, Section on Molecular Neurogenetics, NIMH. In 2000 he was recruited to the University of Massachusetts Medical School from the Intramural Research Program of NIMH where he was Chief, Clinical Neuroscience Branch and Supervising Scientist of the NIMH Transgenic and Targeted Gene Modified Mouse Resource.  At the University of Massachusetts Medical School Dr. Ginns is Director of the Molecular Diagnostics Laboratory and the Gaucher Disease Research and Treatment Center. He is Professor of Pediatrics, Neurology, Clinical Pathology and the Program in Neuroscience.   Dr. Ginns is board certified in Neurology with a special interest in medical genetics.  He is an elected member of the American College of  Neuropsychopharmacology.

Research Areas

Program in Medical Genetics: Our research is directed toward identifying and understanding the consequences of gene mutations on protein and cell function in inherited human disease.   Cell biological and molecular genetic approaches are used in conjunction with clinical studies to obtain a better understanding of gene expression and the molecular pathology of selected Mendelian and complex trait diseases, including lysosomal storage disorders, Ellis van-Creveld syndrome, and manic-depressive illness. In diseases where genes and mutations are still unknown, molecular markers that reveal biologically significant chromosome variations are playing an increasing role in understanding the genomic heterogeneity that underlies human phenotypic variability and susceptibility to disease, as well as response to pharmacologic treatments.   Recent advances in technology have led to the identification of enormous numbers of single nucleotide polymorphisms, SNPs, that frequently occur in the genome.   Together with microsatellite markers, SNPs comprise an important tool for locating inherited components of disease.  Our research takes advantage of this technology to study SNP variation that is relevant to human health and disease.    Research projects reflect a “bench to bedside” approach, combining efforts from interdisciplinary investigations on humans and model systems, such as genetically altered mice.  Our studies uncover new information about gene function in human development, health and disease that can lead to improved diagnosis and treatment.

Lysosomal Storage Disorders: Gaucher Disease, Fabry Disease, Niemann-Pick Disease, Pompe Disease, Tay-Sachs Disease and the Mucopolysaccharidoses are among the most commonly encountered of disorders collectively referred to as lysosomal storage disorders.   The molecular pathology and symptoms are a consequence of functional deficiencies of a lysosomal protein/enzyme, that results in the accumulation of various  substrates within cells of the reticuloendothelial system.   When the substrate build-up sufficiently interferes with cellular function in organs, symptoms appear, and the skeleton, spleen, liver, kidney, heart, lung, nervous system and skin may be affected to different degrees in the different diseases.   Enzyme replacement therapy is available for several of the lysosomal storage disorders.   Our research focuses on Gaucher disease as a prototypic lysosomal storage disorder.   Projects include a) the characterization of the molecular pathology and clinical course in patients and mouse models of Gaucher disease; and b) the development of an orally administered macrophage delivered gene therapy for Gaucher disease and other lysosomal disorders.

Ellis-van Creveld syndrome:   Ellis–van Creveld syndrome, EvC, is an autosomal recessively inherited chondrodysplastic dwarfism frequently associated with congenital heart disease. The clinical manifestations of EvC syndrome include short-limbed dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Mutations in the EVC gene on chromosome 4p16 were first reported in individuals with EvC in the Old Order Amish and other cases from Mexico, Equador, and Brazil. More recently, we identified a novel gene the region 5' to EVC that is mutated in an Ashkenazi child with EvC.  Our finding that mutations in either the EVC or EVC2 gene result in Ellis–van Creveld syndrome adds another dimension to the clinical diagnosis of EvC, as well as to the interpretation of genetic information used for prenatal diagnosis andgenetic counseling.    Research focuses on studies of gene expression for both normal and mutant EVC and EVC2 genes in humans and mouse models. 

Search for Genes Involved in Manic Depressive Illness in the Old Order Amish: This research project focuses on identifying the contribution of genetic components to susceptibility or protection from manic-depressive illness (bipolar disorder; BPAD).  In collaboration with Dr. Janice Egeland, genome mapping and candidate gene studies are carried out on samples from individuals in an Old Order Amish pedigree who are at very high risk for manic-depressive illness.

Molecular Diagnostics Laboratory