| Mia MacCollin,
M.D.
Neuroscience Center at Massachusetts General
Hospital
Massachusetts General Hospital –
East
Building 149
13th Street
Charlestown, MA 02129
Telephone: 617-726-5725
E-mail: maccollin@helix.mgh.harvard.edu
Biography
Dr. MacCollin received her BA in genetics
from Cornell University, Ithaca, NY and MD from Washington University,
St. Louis, MO. She came to the MGH in 1990.
Research Program
The MacCollin laboratory is interested in the molecular
genetic basis of neurofibromatosis 2 (NF2), related conditions and related
tumors. NF2 is a genetic disorder characterized by the development of
multiple nervous system tumors. Although there is great heterogeneity
in the NF2 population as a whole, remarkable homogeneity is seen within
families.
The hypothesis being pursued by this laboratory
is that there is a correlation between the highly variable phenotype
of NF2 and the causative genotype. Current work focuses on defining
a cohort of uniformly studied NF2 patients, creating a database of their
clinical characteristics, and a repository of tissue samples. This laboratory
is also focusing on determining the effect of type and location of mutation
on phenotype in the 66% of NF2 patients that harbor point mutations,
and small frameshifts of the NF2 gene and the mechanism of mutation
in the 33% of predominantly mildly affected patients, whose mutations
cannot be determined by exon scanning.
Finally, Dr. Maccollin and her colleagues are exploring
the feasibility of a rapid molecular diagnostic test for NF2. These
studies may be expected to shed light on the molecular basis for tumor
suppression in NF2 by identification of critical regions of the transcript
and alternative mechanisms of inactivation of this protein. They will
also clarify the role of molecular analysis in the initial ascertainment
of persons with NF2 and related phenotypes. Finally, the determination
of genotype-phenotype relationships will aid in the prognostication
and effective management of this devastating disorder.
Publications
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here to access a full PubMed search on Dr. MacCollin
- Heinrich B, Hartmann C, Stemmer-Rachamimov AO,
Louis DN, MacCollin M. Multiple meningiomas: investigating
the molecular basis of sporadic and familial forms. Int J Onc, 103:483-8
(2003)
- Kluwe L, Mautner V, Heinrich B, Dezube R, Jacoby
LB, MacCollin M. Molecular study of frequency of
mosaicism in neurofibromatosis 2 patients with bilateral vestibular
schwannomas. J Med Genet 40:109-14 (2003)
- Kaufman, DL, Heinrich B, Willett C, Perry A,
Finseth F, Sobel R, MacCollin M. Somatic instability
of the NF2 gene in schwannomatosis. Arch Neurol 60:1317-20 (2003)
- MacCollin M, Willet C, Heinrich
B, Jacoby LB, Ascerino JS, Perry A, Louis DN. Familial schwannomatosis:
exclusion of the NF2 locus as the germline event. Neurology 60:1968-74
(2003)
- Nunes F, MacCollin M. Neurofibromatosis
2 in the pediatric population. J Child Neurology, 18:718-24 (2003).
- Han S, Santos TM Puga A, Roy J, Thiele EA, MacCollin,
M, Stemmer-Rachamimov A, Ramesh V. Phosphorylation of Tuberin
as a novel mechansism for somatic tuberous schelrosis complex proteins
in brain lesions. Cancer Research 64:812-6 (2004)
- Nattrass K, Davis BW, O’Brien S, Patronek
G, MacCollin M. In puppy love: How an assistance dog can enhance the
life of a child with a disability. Contmp Ped, 1/04:57-63 (2004)
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