The Neurogenetics Group
The neurogenetics group provides diagnosis and
management of individuals with neurogenetic disorders,
applying the techniques of molecular diagnosis.
Recent research advances have led to greater understanding
of many hereditary and neurological diseases,
and to the development of new diagnostic tools
that can help you and your family. Our physicians
have been instrumental in discovering the genetic
basis for a variety of neurological disorders
and, in many cases, have at their disposal genetic
diagnostic tools that are not yet widely available.
Our center provides multidisciplinary management
of neurogenetic disorders, including:
- Expert up-to-date diagnosis and consultation
for individuals with hereditary or familial
neurological disorders
- Genetic counseling for families
- Prenatal diagnosis
- Medical management of neurogenetic disorders
Molecular Diagnosis Laboratory
Based in Penn's Department of Pathology and
Laboratory Medicine, the Molecular Diagnosis Laboratory
applies the latest techniques of molecular diagnosis
to a wide range of neurogenetic disorders. Our
specialists provide diagnostic services for many
disorders, including:
- Muscular dystrophy (Duchenne, Becker, facioscapulohumeral,
limb-girdle)
- Myotonic dystrophy
- Hereditary neuropathy (Charcot-Marie-Tooth
disease)
- Spinal muscular atrophy (Werdnig-Hoffmann,
Kugelberg-Welander)
- X-linked spinal and bulbar muscular atrophy
(Kennedy's disease)
- Friedreich's ataxia
- Spinocerebellar degeneration
- Hereditary spastic paraparesis
- Olivopontocerebellar degeneration
- Dystonia
- Tourette's syndrome
- Huntington's disease
- Alzheimer's disease
- Mitochondrial disorders (MERRF, MELAS, Leber's,
Kearns-Sayre syndrome)
- Neurobromatosis
Location:
Penn Comprehensive Neuroscience Center
Hospital of the University of Pennsylvania
3400 Spruce Street
2nd Floor, Ravdin Building
Philadelphia, PA 19104
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