Lysosomal Diagnosis Treatment and Research Center

The University of Massachusetts Medical School's Lysosomal Storage Disorders Treatment and Research Center is committed to the diagnosis and treatment of Lysosomal Storage Disorders, such as Gaucher, Fabry, Mucopolysaccharidoses (MPS-1), Neimann-Pick, Pompe, and others, encompassing both pediatric and adult diagnostic and treatment services. 

What are lysosomal disorders?

Medical support for these disorders often requires a complement of diverse medical specialists.  The staff of the University of Massachusetts Medical School's Lysosomal Storage Disorder Treatment and Research Center is comprised of physicians expert in the fields of genetics, neurology, hematology, orthopedics, nephrology, radiology and cardiology to provide necessary treatment and support for the symptomology associated with lysosomal disorders.  The University of Massachusetts Medical School's team is equipped to perform the necessary genetic testing and to provide genetic counseling for patients and patients' families.

Meet our staff

Enzyme replacement therapy is the current standard of care for several of the lysosomal storage disorders.  The Center at the University of Massachusetts is equipped to provide enzyme replacement therapy to ________ candidates.

Diagnosis and Treatment

Staff of the University of Massachusetts Medical School is involved in privately and federally-funded research programs investigating causes and potential cures for lysosomal storage disorders.

Research on Lysosomal Storage Disorders at UMass

How do I get more information on the University of Massachusetts Medical School Lysosomal Storage Disorder Center?
Contact: Program Coordinator
Deborah Faryna
(508) 856-8133

What are lysosomal disorders?

There are 49-50 rare genetic disorders known as lysosomal storage diseases.  Disorders of this class are still being identified.  They are inherited errors in metabolism.  These disorders are referred to as lysosomal disorders because the accumulation of various substances takes place within a compartment

Metabolic errors cause an unnatural build-up of material in the body's cells as a result of this lack of enzymes to break them down. When the build-up becomes overwhelming to the organs, symptoms start to occur.  These symptoms may present in many different areas of the body.  Skeleton, spleen, liver, kidney, heart, brain (central nervous system) and skin may be affected.

You can read more about the various lysosomal storage disorders at:
http://www.rarediseases.org/
http://www.climb.org.uk/Disorders/

It is because of the broad effects of this buildup in a number of organs in the body that there are a wide range of clinical symptoms. The availability of specialists in the appropriate medical specialties is important for appropriate diagnosis and treatment of these disorders.  This expertise is available at the UMass Lysosomal Storage Disease Center.

Meet our Medical Staff

The staff of the University of Massachusetts Medical School's Lysosomal Storage Disorder Treatment and Research Center is comprised of physicians expert in the fields of genetics, neurology, hematology, orthopedics, nephrology, radiology and cardiology expert in the treatment and support necessary for the symptomology associated with lysosomal disorders.

Dr. Edward I Ginns, MD, PhD
Director of the Center
Professor of Neurology and Psychiatry
Medical Director, Molecular Diagnostics Laboratory
 
Dr. Ginns has a long history with the identification and treatment of Gaucher disease.  His research has had a major impact on current treatment regimens, and he continues his research to develop new strategies.

Genetics    Catherine Nowik, MD
Neurology   Edward I. Ginns, MD,PhD
            Paul Marshall, MD
Hematology  Michael Snyder, MD
Orthopedics  David Ayres, MD
Nephrology 
Radiology  Waite 
Cardiology 

Diagnosis, Treatment and Patient/Family Support

Research on Lysosomal Storage Disorders at UMass

PI
Edward Ginns, MD, PhD
Pre-Clinical Research:  Identifying genetic factors responsible for clinical manifestations involving the nervous system.
" Animal Models
" Phenotype-Genotype Correlations
" Enzyme Replacement (including PEG-GC)
" Gene Transfer to Bone Marrow Progenitor Cells
Clinical Study Protocol
Genetic Aspects of Disorders Affecting the Nervous System

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