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Neurogenetic Testing Lab

Baltimore Huntington's Disease Center

Faculty Director: Russell L. Margolis, M.D.

The Neurogenetics Testing Laboratory provides genetic testing for HD and related diseases to patients as part of the clinical services of the Baltimore Huntington's Disease Center. The laboratory is CLIA and State of Maryland licensed and is under the supervision of the Johns Hopkins University School of Medicine Department of Pathology. The lab also conducts research and supports the Genetic Studies currently underway.

LABORATORY STAFF

Colleen Callahan, B.A., Laboratory Technician

RECENT PUBLICATIONS

Margolis RL, Stine, OC, Callahan Cc, Rosenblatt A, Abbott MH, Sherr M, Ross CA. Two novel single base pair substitutions adjacent to the CAG repeat in the Huntington Disease gene (IT15): Implications for diagnostic testing. American Journal of Human Genetics, 64 (1999):323-326.

Holmes SE, O'Hearn E, Callahan C, Hwang HS, Rosenblatt A, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL. A CTG trinucleotide repeat expansion in Junctophilin 3 is associated with Huntington's Disease-Like 2 (HDL2). Nature Genetics, 29 (2001): 377-378.

Margolis RL, O'Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, Callahan C, Hwang HS, Troncoso JC, Ross CA. A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Annals of Neurology, 50 (2001):373-380.

O'Hearn E, Holmes SE, Calvert PC, Ross CA, Margolis RL. SCA12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. Neurology, 56(2001):299-303.

Holmes SE, O'Hearn E, McInnis MG, Kwak NG, Gorelick-Feldman DA, Kleiderlein JK, Callahan C, Sherr M, Sharp AH, Sumner AJ, Ashworth RG, Ananth U, Seltzer W, Vieria-Saecker AM, Epplen JT, Reiss O, Ross CA, Margolis RL. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12, Nature Genetics, 23 (1999): 391-392.

 

For information about viewing the HDSA Webinars at a different time, call or email the social worker, Kit McFarlane at 410-955-2497 or cmcfarl1@jhmi.edu


Johns Hopkins / HDSA
SUPPORT GROUP

For those concerned about all aspects of Huntington’s Disease: individuals, family, friends

Meets at 7PM
2nd Tuesday of the month at Calvary Baptist Church
120 W. Pennsylvania Ave.
Towson, MD 21204

Park in back; go in the basement.
Call Kit McFarlane, facilitator, for directions and questions:

410-955-2497


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