Eric Hoffman, Ph.D.

Children’s National Medical Center Faculty Member Since:  1998

Rank: James A. Clark Professor of Pediatrics and Bio-Chemistry and Molecular Biology,Neuroscience and Genetics

                Adjunct Professor, University of Pittsburgh School of Medicine

Training History:    

1982                B.A, Biology, Music,.Gettysburg College, Gettysburg, PA

1986                Ph.D,. Biology (Genetics), Johns Hopkins University, Baltimore, MD

1986-1988       Post-doctoral fellowship, Pediatrics/ Genetics, Harvard Medical School,  Boston, MA

1986-1988       Post-doc, Genetics, Children’s Hospital, Boston, MA

Previous Faculty Appointments:

1988-1989       Instructor, Pediatrics, Harvard Medical School

1989-1990       Assistant Professor, Pediatrics, Harvard Medical School

1990-1996       Assistant Professor, Molecular Genetics & Biochem, Human Genetics, Neurology, and Pediatrics, University of Pittsburgh School of Medicine

1996-1998       Associate Professor, University of Pittsburgh School of Medicine

Research Interests:

Molecular bases of genetic disease

Development of molecular diagnostic methods

Rational therapeutics for genetic disease

Abstract Of Current Project(s):

The focus of  our research is to determine the molecular basis of inherited muscle disease, using genetic linkage, molecular genetic mutation, biochemical, and pathophysiological studies.  Diseases currently studied include Duchenne/Becker muscular dystrophy (dystrophinopathies), sarcoglycanopathies, periodic paralysis/paramyotonia congenita (sodium channelopathies), Becker/Thomsen myotonia, rippling muscle disease, limb-girdle muscular dystrophy, and myotonic dystrophy.  Current emphasis is on genome-wide approaches (GeneChip expression profiling) technology towards pathophysiology and etiology. 

Determine the molecular basis of inherited central nervous system disease.  Diseases currently under active study are Rett Syndrome, spastic paraparesis, and white matter disorders.

Investigate the genetic basis for recurrent spontaneous abortion, focusing on identification of X-linked lethal traits through X-inactivation studies and genetic linkage analyses.

Use genome-wide approaches to investigate the response of muscle to physiological and biological stimuli.  Efforts are focused on identification of SNPs dictating muscle strength and size, and expression profiling to elucidate both transcriptional and translational responses to atrophy, exercise, and aging.

Develop advanced molecular diagnostic methods and rapid integration of diagnostic testing into the research environment.

Devise rational therapeutics based on knowledge of disease etiology and the use of animal models.  Gene therapy and pathophysiological therapies are under active investigation in the muscular dystrophies.