A cluster of mutations in neurofibromatosis is an important risk factor for severe symptoms
Research led by Ludwine Messiaen, Ph.D., professor of genetics at the University of Alabama at Birmingham, shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disorder neurofibromatosis type 1.Such information is vital to help guide clinical management and genetic counseling in this complex condition that can be caused by more than 3,000 different mutations found in every part of this large NF1 gene. The study shows a potential need for increased disease surveillance of patients with missense mutations in that cluster — specifically, codons 844 to 848.
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Korf named UAB Medicine's Chief Genomics Officer
Bruce Korf, M.D., Ph.D. has been appointed to lead clinical implementation of precision medicine at UAB as Chief Genomics Officer for UAB Medicine, effective October 1.In this role, Korf, Wayne H. and Sara Crews Finley Chair in Medical Genetics, will work with the UAB Hospital, UAB Health System, clinical department chairs and program and center directors to establish clinical programs in precision medicine, including defining the initial focus priorities as well as the implementation timeline.
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Alabama Genomic Health Initiative lauded for collaboration by advocacy group
The Alabama Genomic Health Initiative was one of several collaborations aimed at improving health to be recognized at the event.
AGHI is aimed at preventing and treating disease, including certain types of cancer, heart problems and genetic disorders. In collaboration with HudsonAlpha in Huntsville, UAB Medicine is providing genomic testing, interpretation and counseling free of charge to residents in each of Alabama’s 67 counties. For some, the results will indicate an increased risk of a disease for which preventive or treatment strategies exist. Those participants will receive genetic counseling and be linked to appropriate medical care.
The initiative also features a public education campaign about genomic medicine and will create a DNA biobank for research, through which data from test results will be used to advance scientific understanding of the role that genes play in health and disease.
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HudsonAlpha and UAB Awarded $10 Million for Newborn Whole Genome Sequencing Project
Alabama Genomic Health Initiative Begins Recruitment
Full scale recruitment for the Alabama Genomic Health Initiative has begun at University of Alabama at Birmingham clinics in Birmingham. The AGHI is one of the nation’s first statewide efforts to harness the power of genomic analysis to identify those at high risk for genetic disease.
The AGHI, a partnership between UAB and HudsonAlpha Institute for Biotechnology, was announced on March 9. It will recruit a diverse group of participants from every county in Alabama and provide genomic analysis and interpretation to this group free of charge.
Read moreRare Disease Genomics Symposium 2017 brings in 100+ attendees
UAB and Children’s of Alabama hosted the 4th annual Rare Disease Genomics Symposium on Friday, March 3, 2017. It was a huge success with our most attendees yet – over 100!
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UAB to launch statewide genetics initiative for better health for all Alabama residents
The project, funded by a $2 million appropriation from the Alabama legislature to UAB, supports one of the nation’s first statewide efforts to harness the power of genomic analysis to help identify those at high risk for a genetic disease, and provide a basis for continuing research into genetic contributors to health and disease.
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Save the Date: UAB-HusdonAlpha Center for Genomic Medicine Symposium
Learn about the benefits of a synergistic approach to genomics. Hear talks from specialists and bring your questions to a distinguished panel of experts. Tour the innovative HudsonAlpha facility and enjoy a networking lunch and evening reception with your colleagues. Download the flyer May 8 | 10 a.m. - 6 p.m. | Huntsville, AL
Biology Seminar: Stripes and Spots: Genetics of Color Variation in a Post-Genome World
Greg Barsh, M.D., Ph.D., Investigator at HudsonAlpha Institute and Professor of Genetics at Stanford University School of Medicine, will present "Stripes and Spots: Genetics of Color Variation in a Post-Genome World." The lecture will take place on Wednesday, Jan. 18 from 11 a.m. - 12 p.m. in Campbell Hall, room 274.
UAB Genetics clinics relocate to Children’s and Kirklin Clinic
UAB’s genetics clinics have moved to new clinical space in Children’s of Alabama and the Kirklin Clinic from their previous location in the Hugh Kaul Human Genetics Building. Pediatric clinics transitioned to the sixth floor of the Dearth Tower at Children’s in October. Adult genetics clinics are now located on the first floor of the Kirklin Clinic as of Nov. 15.Read more
Cannon named Francis S. Collins scholar
Ashley Cannon, Ph.D., in the UAB Department of Genetics has been named the 2016 recipient of the prestigious Francis S. Collins Scholars Program Award.
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.
HudsonAlpha 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
UAB Department of Genetics and the Children’s Tumor Foundation are hosting NF Symposium Family Day 2016. The event will take place in the Bradley Lecture Center in the Children’s Harbor Building at Children’s of Alabama. Stay tuned for more information. Questions? Contact Ashley Cannon at ashleycannon@uabmc.edu. We always look forward to this invaluable opportunity to provide information, support, and answers to Neurofibromatosis patients and families, especially those who may be facing a new diagnosis.
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
April 25 is National DNA Day. This day commemorates the day in 1953 when James Watson, Francis Crick, Maurice Wilkins, Rosalind Franklin and colleagues published papers in the journal Nature on the structure of DNA. The UAB Department of Genetics gathered in the Finley Conference Room for light refreshments, a DNA cake, and a little DNA humor from the chair of the department, Dr. Bruce Korf. The department gathers on the day to celebrate the discovery and understanding of DNA and the scientific advances that understanding has made possible. Happy DNA Day!
Dr. Korf to discuss genetics, genomics in cardiovascular research April 28
UAB Medical Genomics Laboratory refines its genetic testing technology
The Medical Genomics Laboratory at the University of Alabama at Birmingham is expanding its technological array with a new panel of diagnostic tests for genetic diseases known as neurofibromatoses and rasopathies. Beginning April 18, the UAB lab will offer new tests using the technique called customized deep-coverage, next-generation sequencing or NGS.Read more
Bruce Korf videos on medical genetics will teach clinicians worldwide
UAB medical geneticist Bruce R. Korf, M.D., Ph.D., has produced six teaching videos focused on the latest in genetics for clinicians caring for critically ill children in all settings worldwide. The talks are posted on OPENPediatrics, an interactive digital learning platform that provides continuing medical education and promotes knowledge sharing among a global community of clinicians. Read more