I’m pleased to report another successful Neurofibromatosis Symposium was held at the UAB Hugh Kaul Genetics Building on September 27th. Entitled “NF Family Day 2014: Learning & Thriving Together,” this half-day, free event was co-sponsored by UAB and the Children’s Tumor Foundation (CTF). The focus of the event – also known as NF Family Day – was to provide NF patients and their families with a range of information about NF through a series of brief presentations, including an overview of neurofibromatosis, an update on clinical trials and research advances, and patient advocacy. Also, a well-known patient advocate in the Birmingham NF community, Renie Moss, and Kristen Stanley from CTF gave presentations about the work of CTF and also the NF registry. The NF registry (https://nfregistry.patientcrossroads.org) was established by CTF in 2012; its purpose is to help notify NF patients who may be eligible for clinical trials or other research studies and to determine the frequency of specific NF characteristics. A highlight of this year’s NF Family Day was the opportunity for patients and their families to tour two UAB laboratories involved in NF-related research – the Medical Genomics Laboratory, which has performed the largest number of NF mutation tests of any laboratory in the world, and another laboratory developing animal models of NF1 mutations. These tours gave patients and families a firsthand, “insider” look at the promising research initiatives being conducted at UAB with the overall goal of finding and testing effective treatments for NF.
In addition to providing patients and families with important information about NF, a primary purpose of this event is to give families an opportunity to meet and interact with one another. Many of these families haven’t previously had the chance to speak with other families affected by NF, and it’s very meaningful for them to be able to talk to and learn from others with similar experiences and challenges. Many NF families attending the Symposium find that having the opportunity to meet other families in our community affected by NF is one of the most helpful aspects of the event. It’s rewarding to know that the annual NF Family Day can help to facilitate these important, supportive connections among NF families.
In early September, two UAB colleagues and I attended the 16th European Neurofibromatosis Meeting in Barcelona, Spain. Held every two years, this meeting assembles more than 100 international clinicians and researchers in the field of neurofibromatosis to present the most current research and clinical advances. Dr. Ludwine Messiaen, director of the UAB Medical Genomics Laboratory, chaired a session at the meeting and presented an overview of her NF-related research involving the pursuit of genotype-phenotype correlations and identification of novel disease-predisposing genes. Visiting UAB professor and clinician Dr. Xioajie Hu from Shanghai, China, also attended. Dr. Hu, a plastic surgeon, has been working with us since April with the goal of establishing an NF clinic and research program upon his return to Shanghai in a few months.
During the meeting, I was honored to chair a session on quality of life issues in NF and to give an overview of our UAB NF research program, including current clinical trials of promising NF medications and the development of mouse models of actual human NF1 mutations with the goal of testing medications that may restore function to the mutated gene or gene product. Overall, the meeting underscored the robust international efforts currently in progress to generate new research initiatives focused on indentifying effective NF treatments. It was encouraging to be a part of this global, collaborative effort that promotes and fosters an exchange of ideas among members of the NF scientific community.
Director's Blog
Highlights of NF Family Day and Encouraging Developments from an International NF Meeting
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- Written by: Bruce Korf
