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  • REGISTRATION IS NOW OPEN! 5th Annual Rare Disease Genomics Symposium: The Management of Rare Diseases
    Rare Disease Symposium 2018 2 page1 web Page 1Registration is now open for the 5th Annual Rare Disease Genomic Symposium. This symposium, held in conjunction each year with Rare Disease Day, will focus on the management of rare diseases. Friday, March 2, 2018 will have a scientific focus, while Saturday, March 3, 2018 will be centered around patients and caregivers.

    Download the symposium brochue
    To register, visit https://www.childrensal.org/genetics.
  • Siegal named interim chair of the Department of Genetics

    RS19134 Gene Siegal 5 scrSchool of Medicine administrators have tapped Gene Siegal, M.D., Ph.D., to serve as the interim chair of the Department of Genetics beginning Jan. 15.

    Siegal replaces former chair, Bruce Korf, M.D., Ph.D., who was named the Chief Genomics Officer for UAB Medicine in 2017 to lead the implementation of clinical medicine at the School of Medicine.

    “I look forward to working with an expanded group of outstanding colleagues to take the Department to the next level of excellence in research, teaching and clinical practice,” said Siegal.

    A prominent physician and researcher with more than 25 years’ experience, Siegal recently served as the interim chair of the UAB Department of Pathology. He continues to serve as the executive vice-chair of the UAB Department of Pathology, a position he has held for nearly 10 years. Previously, he was the director of the Division of Anatomic Pathology at UAB for 25 years.

    “We greatly value the contributions he has made to the Department of Pathology through the years, both scientific and administrative, and look forward to his leadership in this role serving the Department of Genetics,” said Selwyn M. Vickers, M.D., FACS, senior vice president of Medicine and dean of the UAB School of Medicine.

    As the interim chair, Siegal will chart the strategic direction of the Department, including its clinical and research productivity, and its compliance with School of Medicine and UAB policies. He will serve on the School of Medicine Executive Committee and represent the department in the Joint Health Sciences chair meetings.

    Siegal earned a medical degree from the University of Louisville in 1974 and a doctorate in molecular biology from the University of Minnesota in 1979. He completed residency and fellowship training at the Mayo Graduate School of Medicine and the University of Minnesota and a postdoctoral experience at the National Cancer Institute, NIH.

    The search for a permanent chair is expected to take 12-18 months.

  • A cluster of mutations in neurofibromatosis is an important risk factor for severe symptoms
    ludwine messiaen 2017Research 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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