As part of our ongoing commitment to providing comprehensive, integrated care for children and adults with all forms of NF, I’m pleased to announce the addition of a new nurse, Linda Woodard, to our team of specialists in the UAB NF Clinic. With a background in patient care and clinical research, Ms. Woodward will play an integral role in caring for patients in our clinic as well as coordinating clinical trials and protocols as part of our NF research program.
Neurofibromatosis patients and their family members will have an important opportunity to learn more about NF – including research and clinical care – at the upcoming Neurofibromatosis Symposium to be held at the UAB Hugh Kaul Genetics Building on September 27th. Co-sponsored by UAB and the Children’s Tumor Foundation (CTF), this year’s symposium is entitled “NF Family Day 2014: Learning & Thriving Together.” The focus of this half-day, free event is to provide NF patients and their families with key information in a series of presentations on a range of NF-related topics including: an overview of neurofibromatosis; updates on clinical trials and other research advances; patient advocacy; and a question-and-answer session. Breakfast and lunch will be provided, and those who attend will also have the opportunity to tour two UAB laboratories currently involved in NF-related research. Childcare will be available for the convenience of our families. While there is no cost to attend, reservations should be made by September 25th by emailing hande@uab.edu. We always look forward to this invaluable opportunity to provide information, support, and answers to NF patients and families, especially those who may be facing a new diagnosis.
Our NF research program continues to make significant strides in clinical trials and in the laboratory. UAB serves a dual role both as a member of and the national coordinating center for the NF Clinical Trials Consortium, a collaborative group of 17 medical centers across the country dedicated to conducting clinical trials of the most promising drug therapies for all forms of neurofibromatosis. As a member of the Consortium, we are currently launching two clinical trials to test medications for possible effectiveness in shrinking plexiform neurofibromas, tumors that involve multiple branches of large nerves. These drugs have shown some activity in shrinking plexiform neurofibromas in mouse models, and the hope is that these medications will also be proven effective in human clinical trials. Details can be found on the NF Clinical Trials Consortium website (http://www.uab.edu/nfconsortium/).
In the laboratory, scientists at UAB are continuing to advance research related to the development of mouse models of actual human NF1 mutations in the hope of testing medications that may restore function to the mutated gene or gene product. We have made significant progress in study of a model with a premature stop mutation, a common type of NF1 mutation that leads to a non-functional gene product. This is the first time this specific type of mutation has been studied in a mouse model, and it was chosen by our research team because medications are currently available that can read through a premature stop mutation, restoring function to the gene and allowing the production of some functional protein. In testing such drugs on cells from these mice, we have demonstrated some slight restoration of normal gene function and production of the neurofibromin protein. This is a hopeful sign, and the next phase of the research will be to test the medications on the mice themselves, with the goal of determining whether they slow the growth of neurofibromas in the animals.
To further advance our program’s research goals, we have formed a collaborative partnership with Southern Research Institute, with the objective of screening new medications that may be effective in the treatment of NF. Based on Southern Research Institute’s significant accomplishments in the area of drug discovery, we anticipate this partnership to be productive in helping us to identify new medications that may hold promise as future NF treatments.
I’d like to extend a special note of congratulations to Renie and Philip Moss and their children, Helen and Philip, for being selected to receive the prestigious 2014 Strength and Honor Award at the upcoming NF fundraising event in Detroit, Michigan, in November. This special Birmingham family is being recognized for their integral role in establishing the Alabama chapter of the Children’s Tumor Foundation (CTF) as well as their ongoing leadership of the Alabama CTF and dedication to NF-related education, fundraising, and outreach. This recognition is well-deserved, and we in the Birmingham community are very proud of the Moss family’s tireless mission to raise awareness of NF with the overall goal of helping to fund research aimed at finding effective treatments.
Lastly, the UAB NF Program will soon launch a Facebook page to help patients, families, and others interested in neurofibromatosis stay informed about our program’s activities related to patient care, research, education, and special events. We also look forward to using the new page as a vehicle to communicate with patients and families about important developments in the NF community.
Director's Blog
Upcoming NF Family Day, Research Advances, and a Special Award for a Birmingham Family Affected by NF
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- Written by: Bruce Korf
