HudsonAlpha Institute for Biotechnology, a nonprofit genomics and genetics research institute in Huntsville, Alabama, in collaboration with the University of Alabama at Birmingham School of Medicine and the University of Mississippi Medical Center, has been awarded a four-year, $10 million grant from the National Institutes of Health to investigate how genome sequencing can help with the diagnosis and care of babies with birth defects and genetic disorders.

The project, “Clinical Sequencing Across Communities in the Deep South,” is part of a network of nationwide sites called the Clinical Sequencing Evidence-Generating Research Consortium, or CSER2, and will enroll infants in neonatal nurseries with birth defects and/or other signs suggestive of a genetic disorder. The project is being led by HudsonAlpha faculty investigator Greg Cooper, Ph.D., together with HudsonAlpha faculty investigator Greg Barsh, M.D., Ph.D.; and Bruce Korf, M.D., Ph.D., professor and chair of the UAB Department of Genetics.

aghi webFull 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.

Following the conclusion in May of a pilot project that recruited the first 100 participants, the AGHI has now opened widespread recruitment with the intent of adding 2,000 individuals in the first year. Over a five-year period, the goal will be to increase the number of participants to more than 10,000 persons.

“This project will result in immediate health benefits to some participants, and in the long term will help to address problems of chronic disease and rising health care costs in the state,” said Bruce Korf, M.D., Ph.D., chair of the UAB Department of Genetics and co-director of the AGHI. “It will also position Alabama as a leader at the forefront of 21st century medicine.”

“The AGHI could lead to identification of new genetic diseases and new treatments that will benefit Alabamians and the rest of the world,” said Greg Barsh, Ph.D., faculty investigator at HudsonAlpha and co-director of the AGHI. “Researchers working on finding cures to conditions like diabetes, heart disease, epilepsy and cancer will be able to utilize knowledge from these data to identify genetic factors that predispose people to these diseases as well as rare disorders—all with the ultimate goal of developing new approaches to prevention, diagnosis and treatment.”

Recruitment is now open at UAB Kirklin Clinic and Medical Towers in Birmingham. The process takes about 30 minutes. Participants will have an opportunity to learn more about AGHI by interacting with patient navigators. The navigators will explain the benefits and responsibilities of participation in AGHI, and if they choose, participants can join at that time. A simple blood draw will be done to obtain DNA.

The Center for Genomic Medicine Symposium is presented by UAB and the HudsonAlpha Institute for Biotechnology. 

Monday, May 8 | 10 a.m. - 6 p.m. | Huntsville, AL 

Learn about the new granting program which will initiate development of systems and/or diseases oriented working groups, e.g. "Neuroscience", "Cardiovascular Diseases", "Autoimmunity", etc. with the aim to create research projects, which will integrate genetics/genomics and impact the discipline substantially. For details, visit

  • Hear how you can leverage the Center's synergistic approach to genomics
  • Listen to talks from UAB and HudsonAlpha specialists in genomic medicine research
  • Tour the facilities on HudsonAlpha’s biotech campus and take advantage of networking opportunities.
RDD 2017UAB 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! The symposium focused on integrating genetics and genomics in day to day medical practice. We included sessions to discuss indications for referrals, diagnostic approaches, outcomes, and follow-up. The keynote address, “Genotype Does Not Always Explain Phenotype for Skeletal Disorders,” was given by Debbie Krakow, MD, David Geffen School of Medicine at UCLA. The patient/parent panel was very well-received. The passionate and inspirational speakers were Morgan Cheek, Swapna Kakani, and newly named director of UAB Hugh Kaul Personalized Medicine Institute Matt Might. Attendees walked away with awareness, resources, and new knowledge.

In addition to the symposium and in recognition of Rare Disease Day and Rare Disease Week, Children’s hosted an art exhibit the Thursday night before on March 2 in the Bradley Lecture Center. The Art Exhibit featured traveling pieces of art, each focusing on a rare disease patient. The purpose of the exhibit, presented by the Rare Disease United Foundation, is to encourage a look “beyond the diagnosis” to the patient. The art exhibit was displayed throughout Children’s of Alabama from February 20 through March 17, 2017.

Click here to view photos from the event.
The University of Alabama at Birmingham — Alabama’s leading provider of genomic and personalized medicine — has launched the Alabama Genomic Health Initiative in partnership with HudsonAlpha Institute for Biotechnology to better meet health needs across the state.

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.