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ISB, Gladstone Institute Launch Collaboration Focused on Huntington's Disease

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) — The Gladstone Institute of Neurological Disease and its Taube-Koret Center for Huntington's Disease Research will collaborate with the Institute for Systems Biology to identify genes and drug targets related to the onset and progression of Huntington's disease through the sequencing of whole genomes.

Steven Finkbeiner, GIND associate director and senior investigator, will lead a research team that will provide DNA samples of HD patients and family members who are unaffected or at risk for HD. The samples will be sequenced by ISB in partnership with Complete Genomics of Mountain View, Calif.

While Huntington's disease is now attributed to a single gene mutation, the team will explore whether other genes regulate the onset and progression of the disease, and thus could influence its symptoms at an individual level.

"ISB has already demonstrated the power of using whole family genome sequencing to identify genes that encode simple genetic diseases," ISB President Lee Hood said. "This study offers the opportunity to go one step further and actually find genes that modify the effects of a well known disease gene — that encoding the Huntington's disease."

"The hope is that the work we do here will lay the foundation for applying these techniques to more common but unfortunately more complex neurodegenerative diseases," Finkbeiner added in the statement. Those diseases would include Alzheimer's disease, frontotemporal dementia, and Parkinson's disease.

Finkbeiner is also director of the Taube-Koret Center, established last year by the J. David Gladstone Institutes with Taube Philanthropies and the Koret Foundation. His team will also use induced pluripotent stem cells from HD patients to screen for drugs designed to delay, prevent, or even reverse the disease.

Taube-Koret Center investigators belong to an NIH-funded consortium that uses iPS cells to develop human neurons with HD characteristics. Fibroblasts are obtained from the skin cells of HD patients and converted first into iPS cells and then into neurons. The work is designed to provide a more accurate platform for testing new therapies than currently available experimental models.

The collaboration is the first project focusing on a well-known, complex disease to employ whole-genome sequencing in families, according to the partners.

Earlier this year, ISB researchers published results from their use of whole-genome sequencing to identify mutations behind Miller syndrome, and an inherited lung disorder called ciliary dyskinesia in a family of four — two affected siblings and their parents.

The sequencing project is being funded as part of ISB's $200 million series of collaborations launched by Luxembourg, and is the largest complete human genome disease association study conducted to date, according to ISB and GIND.

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