News and Events : 2013

Miller School Medical Geneticist Elected to National PKU Alliance Board of Directors

Olaf Bodamer, M.D., Ph.D., FACMG, FAAP, Clinical Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and Medical Director of the Division of Clinical and Translational Genetic, was elected to serve on the National PKU Alliance (NPKUA) Board of Directors. He will serve on the Board beginning in January, 2014.

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World Prematurity Day

Raise awareness in your community for prematurity and the plight of preterm babies and families. Being the leading cause of infant morbidity and mortality, they are the largest child patient group in the world.

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Eden Martin, Ph.D.

Hussman Institute Researchers Collaborate on First Genomic Survey of Multiple Hispanic Populations

A study co-led at the Miller School by Eden Martin, Ph.D., professor in the Dr. John T. Macdonald Foundation Department of Human Genetics, has identified a wide diversity of ancestry within and between Hispanic populations, findings that could lead to more targeted gene discovery for the group.

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Miller School medical geneticist discusses interest in sequencing-based newborn screening

Olaf Bodamer, M.D., Ph.D., FACMG, FAAP, clinical professor in the Dr. John T. Macdonald Foundation Department of Human Genetics, was invited to discuss the pros and cons of genomic technology and newborn screening in a panel at the annual American Society of Human Genetics (ASHG) meeting in Boston.

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Zane Zeier, Ph.D, Claes Wahlestedt, M.D., Ph.D., and Michael Benatar, M.D., Ph.D.

Defense Department Awards ALS Drug Development Grant to Miller School Researchers

A new drug development grant from the U.S. Department of Defense will allow researchers at the University of Miami Miller School of Medicine to study potential treatments for amyotrophic lateral sclerosis (ALS), a neurological degenerative condition commonly called Lou Gehrig’s disease.

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Stephan Züchner, M.D., Ph.D., welcomes firefighters from across Miami-Dade County to the Biomedical Research Building, where they kicked off their annual drive to support the Muscular Dystrophy Association.

Firefighters Launch Annual Boot Drive for Muscular Dystrophy at the Miller School

Greater Miami’s firefighters announced their annual Labor Day weekend “Fill the Boot” Drive that benefits the Muscular Dystrophy Association (MDA) with a kick-off event at the Biomedical Research Building last week that showcased the Miller School’s neurological research and featured a testimonial from a grateful patient.

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Ralph L. Sacco, M.D., M.S.

Neurology Chair Joins NIH National Advisory Council

Ralph L. Sacco, M.D., M.S., professor and Chair of Neurology and the Olemberg Family Chair in Neurological Disorders, has been appointed to the NIH’s National Advisory Neurological Disorders and Stroke Council, the principal advisory body to the National Institute of Neurological Disorders and Stroke (NINDS).

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2013 JJ Vance Memorial Summer Interns are, back row, from left, Kevin Clark, Kassala Collington, Sachin Parekh, and Michael Ivory, and front row, from left, Julie Luo, Briana Ramirez, Tiffanie Henriquez, and Isabelle Csete.

Hussman Institute Hosts Gifted High School Students for JJ Vance Memorial Internship

The John P. Hussman Institute for Human Genomics at the Miller School hosted eight high school interns for the 2013 JJ Vance Memorial Summer Internship in the Biological and Computational Sciences, which offers rising seniors from Miami-area high schools a unique opportunity to be directly involved in scientific research.

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Opening up the conversation about BRCA genetic testing

Olaf Bodamer, M.D., Ph.D., and Talia Donenberg, M.S., C.G.C., of the Dr. John T. Macdonald Foundation Department of Human Genetics, discussed BRCA genetic testing in the Miami Herald.

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BRCA gene decision hailed

Dr. Olaf Bodamer, director of the Division of Clinical and Translational Genetics, calls last week’s SCOTUS decision on gene patents “in favor of patients” in the Sun-Sentinel. Read more!

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From left are Rafael F. Acosta, Michael A. Gonzalez, Stephan Züchner, M.D., Ph.D., and Fiorella Speziani.

Miller School Expertise Plays Pivotal Role in International Whole Exome Study

Miller School researchers co-led an international study that identifies a new genetic syndrome associated with complex hereditary spastic paraplegia (HSP). Led by Stephan Züchner, M.D., Ph.D., researchers at the Miller School made the discovery possible by lending their widely recognized expertise in computing and interpreting whole exome data.

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Gaofeng Wang, Ph.D.

A publication by researchers at the Miller School was featured as the “Paper of the Week”

A publication by researchers at the Miller School was featured as the “Paper of the Week” in the Journal of Biological Chemistry (JBC). JBC’s editorial board members and associate editors determined that the paper, “Ascorbate induces Ten-eleven translocation (Tet) methylcytosine dioxygenase-mediated generation of 5-hydroxymethylcytosine”, was in the top 2 percent of manuscripts they will review in a year in terms of significance and overall importance. Only 50 to 100 papers are selected from the more than 6,600 published in the JBC each year.

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Are you concerned about your genetic risk for cancer?

Angelina Jolie announced that she is a carrier of the BRCA1 gene, a gene that put her at an estimated 87% lifetime risk of developing breast cancer.

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Jennifer J. Hu, Ph.D., left, and Evadnie Rampersaud, Ph.D.

Researchers Identify “Obesity Genes” Among People of African Ancestry

An international team of researchers, including three from the Miller School, has discovered new regions of the human genome that influence obesity in people of African ancestry, as well as others. Contributing to the study from the Miller School were Jennifer J. Hu, Ph.D., Evadnie Rampersaud, Ph.D., and Jorge L. Rodriguez Gil, B.S.

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

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

Miller School researchers collaborated with an international 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 provides new directions for biological, genetic and therapeutic studies of Alzheimer’s disease.

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Mustafa Tekin, M.D.

Researchers Identify Gene that Causes Deafness and Myopia

Miller School researchers co-led an international study to identify a new genetic syndrome characterized by deafness, the most common human sensory disorder, and myopia (nearsightedness), the most common human eye disorder. Published online April 1 in the Journal of Clinical Investigation, the study demonstrates that the SLITRK6 protein plays a critical role in the development of normal hearing and vision in humans and mice.

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Mustafa Tekin, M.D.

Human Genetics Faculty Awarded $3.1 Million NIH Grant To Study Hearing Loss

Mustafa Tekin, M.D., associate professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and member of the John P. Hussman Institute for Human Genomics, has been awarded a $3.1 million, five-year grant from the National Institutes of Health to identify genes that cause deafness and are associated with inner ear anomalies.

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From left are William K. Scott, Ph.D., Margaret Pericak-Vance, Ph.D., Stephen G. Schwartz, M.D., M.B.A., and Jaclyn L. Kovach, M.D.

Researchers Identify Seven New Genes Associated with Macular Degeneration

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 in Nature Genetics, their study provides new directions for biological, genetic and therapeutic studies of macular degeneration.

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Jeffery M. Vance, M.D., Ph.D., and Karen Nuytemans, Ph.D.

UM Researchers Sequence Rare Variants Associated With Parkinson Disease

Miller School researchers have conducted whole exome sequencing to further investigate genes recently identified as being associated with Parkinson disease. The findings of their study, “Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease,” were published online this month in the journal Neurology.

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Susan Halloran Blanton, Ph.D., and William K. Scott, Ph.D.

Genetics Faculty Awarded $4.3 Million to Study Cleft Lip and Advance Computational Genomics Training

Susan Halloran Blanton, Ph.D., associate professor of genetics and neurology, and William K. Scott, Ph.D., professor of human genetics, have been awarded a total of $4.3 million in grants by the National Institutes of Health.

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