Lysosomal Diagnosis Treatment and Research Center
The UMass Chan 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 UMass Chan 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 UMass Chan 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 UMass Chan 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 UMass Chan 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 UMass Chan 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