Tag Archive | "John P. Hussman Institute for Human Genomics"

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Discovery Leads to Simple Blood or Urine Test to Identify Blinding Disease


Byron Lam and Rong Wen, professors of ophthalmology at Bascom Palmer, discovered a key marker in blood and urine that can identify people who carry genetic mutations in a gene responsible for retinitis pigmentosa.

Byron Lam and Rong Wen, professors of ophthalmology at Bascom Palmer, discovered a key marker in blood and urine that can identify people who carry genetic mutations in a gene responsible for retinitis pigmentosa.

Research led by physician-scientists at Bascom Palmer Eye Institute has produced a breakthrough discovery in diagnosing retinitis pigmentosa, a blinding disease that affects about 1 in 4,000 people in the United States. Read the full story

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Researchers Identify New Gene Associated with Alzheimer’s Disease in African Americans


Margaret Pericak-Vance, third from left, with members of the Hussman Institute’s outreach team, from left, Larry Deon Adams, Doris Caldwell, and Krystal Murphy.

Margaret Pericak-Vance, third from left, with members of the Hussman Institute’s outreach team, from left, Larry Deon Adams, Doris Caldwell, and Krystal Murphy.

Researchers at the Miller School of Medicine have collaborated with a national team to identify a new gene associated with Alzheimer’s disease in African Americans. Published April 10 in the prestigious Journal of the American Medical Association, their study, “Variants in the ATP-binding cassette transporter, ABCA7, and the apolipoprotein E ε4 allele substantially and equally influence risk of late-onset Alzheimer’s disease in African Americans,” provides new directions for biological, genetic, and therapeutic studies of Alzheimer’s disease. Read the full story

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Researchers Identify Seven New Genes Associated with Macular Degeneration

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Researchers Identify Seven New Genes Associated with Macular Degeneration


From left are William K. Scott, Margaret Pericak-Vance, Stephen G. Schwartz, and Jaclyn L. Kovach.

From left are William K. Scott, Margaret Pericak-Vance, Stephen G. Schwartz, and Jaclyn L. Kovach.

Researchers from the Miller School of Medicine collaborated with an international team to identify seven new genes associated with age-related macular degeneration (AMD), the most common form of vision loss in older people. Published online March 3 in Nature Genetics, their study, “Seven New Loci Associated with Age-Related Macular Degeneration,” provides new directions for biological, genetic, and therapeutic studies of macular degeneration. Read the full story

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Researchers Identify Gene that Contributes to Alzheimer’s Disease


Margaret A. Pericak-Vance and Stephan Züchner

Researchers from the Miller School of Medicine have identified a gene associated with Alzheimer’s disease in Caucasians. Their study, published online October 27 in Neurobiology of Aging, demonstrated that a change in the C9ORF72 gene, called a repeat expansion, could be a new cause for late-onset Alzheimer’s disease, mostly in Caucasians. Read the full story

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Miller School Launches First-of-Its Kind Genomic Medicine Master’s Program

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Miller School Launches First-of-Its Kind Genomic Medicine Master’s Program


Research associate Angela Dajnoki checks a tandem mass spectrometer at the Hussman Institute for Human Genomics, where students can now pursue a master's in genomic medicine.

First-year medical students at the Miller School of Medicine now have the opportunity to earn a Master of Science in Genomic Medicine along with their medical degree, a program unique to the University of Miami.

“This is the first program of its kind in the country,” said William K. Scott, vice chair of education in the Dr. John T. Macdonald Foundation Department of Human Genetics. Scott will direct the program, which will be coordinated by Kayla Czape, a genetic counselor. Read the full story

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