Korf appointed new editor of The American Journal of Human Genetics
The American Society of Human Genetics recently announced Bruce R. Korf, M.D., as the incoming editor-in-chief of The American Journal of Human Genetics, published by Cell Press. Korf’s term will begin in January 2018.
Read moreHudsonAlpha and UAB awarded NIH training grant
The University of Alabama at Birmingham and HudsonAlpha Institute for Biotechnology have been awarded a National Institutes of Health Ruth L. Kirschstein National Research Service Award to train postdoctoral fellows who have earned an M.D. and/or a Ph.D. The UAB-HudsonAlpha Genomic Medicine Research Training Program is designed to recruit trainees from various disciplines and provide mentorship and clinical research training in genomic medicine. At HudsonAlpha, the program will provide up to two years of support for postdoctoral trainees who choose to learn and work at the Institute.
Read moreFixing cystic fibrosis: In vitro studies show therapeutically robust correction of the most common CF gene mutation
In experiments with isolated cystic fibrosis lung cells, University of Alabama at Birmingham researchers and colleagues from two other institutions have partially restored the lost function of those cells.
The work is proof-of-concept for using a yeast genetic model to find therapeutic targets, in this case for people with the most common cystic fibrosis mutation, called ∆F508-CFTR. This mutation affects close to 90 percent of patients with cystic fibrosis, and half of those have two copies of the mutation.
Read moreSave the Date: NF Family Symposium on August 27
Center for Genomic Medicine: Pilot Project in Genomic Medicine
The Center for Genomic Medicine announced a Request For Application (RFA) at the symposium on May 4. This RFA is intended to stimulate collaborative research efforts between faculty at UAB and HudsonAlpha, with the goal of developing new research programs that will enhance the leadership of UAB and HudsonAlpha in the integration of genetics and genomics into medicine. For application information, click here.
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Today is DNA Day
Dr. Korf to discuss genetics, genomics in cardiovascular research April 28
UAB Medical Genomics Laboratory refines its genetic testing technology
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Bruce Korf videos on medical genetics will teach clinicians worldwide
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The UAB-HudsonAlpha Center for Genomic Medicine publishes first newsletter
Agenda Available for Center for Genomic Medicine Symposium
Event Description
At the Center for Genomic Medicine Symposium 2016, you will learn more about the capabilities and benefits surrounding our synergistic approach to genomics. Hear talks from specialists and gain the opportunity to ask questions of a distinguished panel of experts. You will have the chance to tour the innovative HudsonAlpha facility, enjoy a networking lunch with your peers and discuss with colleagues over cocktails at the evening reception.Medical detectives tackle undiagnosed diseases at UAB
Smith enrolled her son in physical therapy and sought answers from medical doctors, who couldn't pinpoint a problem with her son. They diagnosed his delay and provided a bleak prognosis that he might never learn to walk, talk or take care of himself.
Gage defied expectations and learned to communicate and read at a 3rd-grade level, Smith said. Then, when he was 9 years old, he began complaining about pain in his hips.
Rare Disease Genomic Symposium on Friday, Feb. 22, 2016
The symposium, associated with Rare Disease Day, Feb. 29, is also co-sponsored by UAB Medicine Genetics, the Heflin Center for Genomic Sciences, and the Center for Clinical and Translational Science.
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UAB-HudsonAlpha Center for Genomic Medicine Symposium 2016 Registration Now Open!
WHEN: Wednesday, May 4, 2016 from 10:00 AM to 6:00 PM (CDT)
WHERE: Jackson Center - 6001 Moquin Drive Northwest Huntsville, AL 35806
UAB researchers work to unravel the complex genetic disease neurofibromatosis type 1
A vivid example of that is seen in the UAB Medical Genomics Laboratory, headed by Ludwine Messiaen, Ph.D., professor of genetics. This lab offers clinical genetic testing for a broad array of common and rare genetic disorders. One of the most confounding is neurofibromatosis type 1.
In Conjunction with the Heflin Center for Genomic Sciences Present: Genetics and Genomics Seminar Series
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UAB’s Undiagnosed Diseases Program gives answers where there were none
“We went to numerous physicians in Florida, South Carolina, Washington, D.C., and never got answers,” said Stephanie Smith. “They wrote “unknown bone disease” in the charts. We knew there was something dreadfully wrong with three of our five children, and no one could tell us what it was.”
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UAB Medicine’s Undiagnosed Diseases Program expands with genomics clinic at Children’s of Alabama
Some of these conditions may be so rare that only a handful of people in the world have them. Others may be more common, but have symptoms that present in an unusual way, making diagnosis difficult. It is possible the UAB Medicine program will discover genetic conditions that have never been described.
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UAB-HudsonAlpha Center for Genomic Medicine awards first pilot grants
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