Noteworthy Milestones of 2016

The end of 2016 provides a time to reflect on significant milestones for the UAB NF Program during the previous year and an opportunity to look ahead to new goals in the areas of patient care, education, and research for 2017.  A significant accomplishment achieved this year is the NF Clinic’s relocation to two distinct sites in the UAB Medical Center District, recently completed as part of a reorganization into adult and pediatric clinics located in the Kirklin Clinic at UAB and the downtown Children’s Hospital of Alabama, respectively. The clinics that have been held in the new locations thus far have gone smoothly, and patients have provided positive feedback about the improved facilities and logistics, particularly more convenient parking.  An important benefit for our patients is that the new locations allow more streamlined integration with the range of other medical specialties involved in the multidisciplinary care we provide and enable imaging, blood draws, and consultations with other specialists to occur in the same location. Our previous clinic space in the Hugh Kaul Human Genetics building has been closed and will be reconfigured for another purpose yet to be determined. We’re pleased that our patients are benefitting from the convenience and integration of care that the new clinic locations provide.

In the area of patient education and support, our program co-sponsored, with the Children’s Tumor Foundation (CTF), another highly successful NF Symposium on August 27th.  The event, also known as NF Family Day, was held for the first time at the Children’s Harbor Building at Children’s of Alabama and provided an opportunity for NF patients and families to hear a series of presentations on a range of NF-related topics presented by clinical experts. We were also pleased to again support the 3rd Annual Alabama NF Walk held on October 16th in Veteran’s Park in Hoover. The NF Walk is held in cities across the nation as an important fundraising event for the Children’s Tumor Foundation (CTF), the major source of patient advocacy and research support for all forms of NF in both children and adults. This year’s Alabama NF Walk, launched for the first time in our area only three years ago, raised more than $40,000 and registered more than 300 participants.

Our research program continued to advance robust basic and preclinical research as well as  clinical trials focused on finding and developing life-changing therapies for people with NF. Earlier this year, our NF Program Genetics Counselor, Ashley Cannon, MS, PhD, CGC, was named a 2016 recipient of the prestigious Francis S. Collins Scholars Program Award, which is designed to attract the highest level of talent to the field of NF research by providing salary and research support to advance a clinical translational research study that will lead to improved treatment options for NF1.  The first individual in our program to have received this significant honor, Ashley has been working on a clinical study for cutaneous neurofibromas utilizing eight years of patient data, representing the largest existing data set of cutaneous neurofibromas. The results of the study are in the final stages of review and will be submitted for publication in the near future. Our entire NF clinic team is proud of Ashley for receiving the Collins Scholar distinction and her outstanding work in NF research.

The capabilities of our renowned and dedicated research team were further enhanced with the addition of two new faculty members this year.  Deeann Wallis, PhD, joined our drug discovery initiative to identify compounds that may lead to effective therapies for NF. Her research involves developing assays that are used to test cultured cells with compounds that could restore function of the NF gene using the RAS pathway. Our program’s partnership with Southern Research Institute provides access to a vast chemical compound library and the use of high-throughput screening, an important drug discovery method that uses robotic automation to quickly evaluate the biochemical activity of a large number of compounds that may have potential in restoring gene function.  Additionally, Dr. Wallis is testing the effectiveness of potential new drug therapies for NF1 using induced pluripotent stem (iPS) cells derived from individuals with the NF1 gene mutation. These specialized types of cells are reprogrammed from an adult cell and can develop into virtually any type of cell in the body, allowing the creation of disease-specific stem cells that can be used to test drug effectiveness. Also, computational biologist Andre Leier, PhD, joined our research team this year with a focus on developing mathematical models of the RAS signaling process. Dr. Leier’s efforts will further our understanding of the genetic mechanisms involved in NF so that drug therapies can be developed to restore function to mutated genes.

In other research initiatives this year, our efforts to produce mouse models of specific types of NF mutations continues to progress. These models are useful in allowing our genetic scientists to study the NF disease process as well as the effectiveness of new drug treatments.  Animal model development represents an area of significant commitment in our research program that will continue to expand in 2017 and beyond. In the area of clinical trials, we are hoping to launch a clinical trial for cutaneous neurofibromas in the upcoming year.

New Goals for the Year Ahead

Our commitment to supporting clinical trials continues with our role as the coordinating center for the NF Clinical Trials Consortium, a collaborative group of 18 medical centers across the country and in Australia dedicated to conducting clinical trials of the most promising drug therapies for all forms of NF. We have submitted a five-year funding renewal request to the U.S. Department of Defense and are hopeful that funding will be renewed. During our recent Consortium steering committee meeting, several new clinical trials were proposed for the upcoming year. There are two clinical trials for next year that are not dependent on Consortium funding, including a cutaneous neurofibroma trial that will be launched in early 2017.

We also plan to continue our preclinical research efforts in the coming year. Several members of our NF clinic team attended a meeting in Detroit recently with scientific leaders from all over the world representing many genetic conditions, including cystic fibrosis and muscular dystrophy. We discussed drug development efforts aimed at restoring function to mutated genes and have developed collaborations with many of these leaders so that we can adapt these approaches to NF research.  Also, we continue to support NF research efforts beyond those of our program. In my role this year as chair of the strategic planning committee for the Children’s Tumor Foundation (CTF), I recently chaired a retreat in Virginia focused on planning future CTF research goals. 

In the area of patient education and support, an important goal for our clinic in the upcoming year is to increase patient engagement. We are working with a group at UAB to develop a smart phone app that will allow patients to become more involved in several aspects of their care as well as enhance their interaction and experience with the clinic.  We are also actively planning the next NF Symposium, or NF Family Day, scheduled for August of 2017.  In conjunction with Children’s Harbor, we’re exploring the possibility of using an off-campus location for an overnight retreat with our NF families.  Also, we’re looking forward to supporting another successful Alabama NF Walk in October as part of CTF’s ongoing efforts to raise funds for critical research aimed at finding and developing effective treatments for NF.