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Neurogenetics Clinic
Kennedy Krieger Institute, 801 North Broadway, Baltimore, MD 21205

Director:


Description of Program:

The clinic provides diagnoses, carrier detection and possible treatment suggestions for neurodegenerative and neurodevelopmental disorders (in particular, Rett syndrome). Patients with diseases causing white matter abnormalities of the brain, also called leukoencephalopathies, are also evaluated. These diseases may or may not be identified by known genetic and biochemical tests. Specific therapies may include use of medications, surgical intervention, or enzyme replacement therapy. Supportive therapies may include dietary, educational, behavioral, physical, occupational or speech and language therapies. Many patients at the Clinic are referred for diagnosis and management of Rett syndrome (RS). With the identification of a genetic marker, the MeCP2 blood test is clinically available to determine mutations in that gene, seen in the majority of RS patients. If patients are referred with clinical features of RS but are mutation negative, other diagnostic possibilities are considered. Also, many undiagnosed leukoencephalopathies are referred for potential identification and management. Clinic staff members have recently identified two new disease entities among the leukoencephalopathies.

Goals of Clinic:

Diagnosis and treatment of neurodegenerative and neurodevelopmental disorders, and identification of diseases causing white matter abnormalities of the brain (also called leukoencephalopathies).

Hours of Operation:

Tuesday mornings: 9:00 a.m. for new patients; 10 a.m. for follow-up patients; 11 a.m. for follow-up patients (by appointment only)

Contacts:

To make a referral or request an initial evaluation:
Contact our Care Management Office
Toll-Free Referral: (888) 554-2080
Local Referral: (443) 923-9400

For follow-up appointments:
Barbara Ann Bradford
or Kristin Andersen
Phone: (443) 923-2778 or (800) 873-3377, ext. 3-2778
Fax: (443) 923-2779
bradford@kennedykrieger.org
andersen@kennedykrieger.org

Primary Diagnoses Served:


Other Diagnoses, Subsets and Synonyms Served:

Leukoencephalopathies: white matter abnormalities of the brain

Related KKI Clinical Programs:


Related KKI Research:


Additional Resources:




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