Section: Research

Postdoctoral Position Available

Edward Ginns, Ph.D.,M.D.

Academic Role: Professor

Faculty Appointment(s) In:
   Neurology
   Pathology
   Pediatrics
   Psychiatry

Other Affiliation(s):
   Graduate School of Biomedical Sciences
   Interdisciplinary Graduate Program
   Program in Neuroscience
   Shriver Center

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

Office: 137
Phone: 508-856-8134
Fax: 508-856-8145
E-mail: Edward.Ginns@umassmed.edu
Keywords: Lysosomal Disorders, Animal Models of Disease, Neurological Disease, Medical Genetics, Gene Therapy

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Postdoctoral Position Available Postdoctoral Position Available   A postdoctoral position (PhD, MD, and/or DVM) is available on gene transfer for treatment of genetic diseases. Current projects are focused on preclinical gene therapy for lysosomal storage diseases and bone disorders.  The successful applicant should be highly motivated and have a strong background in molecular and cell biological techniques.  Interested applicants should email or fax a CV including contact information for three references to:   Edward I. Ginns, MD, PhD Molecular Diagnostics Laboratory University of Massachusetts Medical School Reed Rose and Gordon Building, Room 137 222 Maple Avenue Shrewsbury, MA 01545 Email:  Edward.Ginns@umassmed.edu FAX:  508.856.8145 The University of Massachusetts Medical School is an Equal Employment Opportunity/Affirmative Action Institution.