Neurofibromatosis Symposium: Family Day 2016
Plans are finalized for the upcoming Neurofibromatosis Symposium to be held in the Bradley Lecture Center of the Children’s Harbor Building at Children’s of Alabama on Saturday, August 27th. This will be the first time the Symposium will be held in Children’s Harbor, a non-profit organization that supports seriously ill children and their families through educational and counseling services; we’re pleased that our NF Clinic has formed a collaboration with Children’s Harbor to enable our families to take advantage of the services they provide. Also known as NF Family Day, the NF Symposium is a half-day, free event, co-sponsored by UAB and the Children’s Tumor Foundation, that supports a key mission of our program in providing NF patients and their families with valuable information on a range of NF-related topics presented by clinical experts.
Janice Crow with Children’s Harbor will discuss the services offered by the organization and will be available to meet with parents one-on-one during the Symposium to discuss educational needs. Also, a tour of the facility will be available later in the day for those interested. Additional presentations during the Symposium will include an overview of NF1, NF2, and schwannomatosis as well as activities in the UAB NF Clinic; an update on clinical trials; developmental difficulties for children with NF; the natural history of dermal neurofibromas and upcoming clinical trials; and a review of advocacy, fundraising, and upcoming events. For the convenience of our families, breakfast, lunch, and childcare will be provided. Children participating in childcare in the Children’s Harbor facility will have access to a variety of activities including art projects, video games, and board games. While there is no cost to attend, reservations should be made by August 24th by emailing ashleycannon@uabmc.edu or calling 205-996-2916. The NF Symposium is an invaluable opportunity for NF patients and families, especially those facing a new diagnosis, to learn key information and answers to questions about neurofibromatosis. It also provides a unique forum for patients and families to connect with one another and gain understanding and strength through their shared experiences, challenges, and concerns. We look forward to serving our NF patients and families again this year through hosting this meaningful and informative event.
Neurofibromatosis Symposium: Family Day 2016
Saturday, August 27th, 2016
Schedule:
08:00-08:30 a.m. Register/Breakfast
08:30-8:45 a.m. Welcome – Dr. Bruce Korf
8:45-9:00 a.m. Children’s Harbor/Educational Assistance – Janice Crow
9:00-10:00 a.m. NF 101/Updates – Dr. Bruce Korf
10:00-10:30 a.m. Clinical Trials Update – Dr. Alyssa Reddy
10:30-10:45 a.m. Break
10:45-11:15 a.m. Developmental Difficulties – Dr. Michelle Kong
11:15 -11:45 a.m. Dermal Neurofibromas – Dr. Ashley Cannon
11:45-12:00 p.m. Advocacy, Fundraising, Upcoming Events – Renie Moss
12:00-12:30 p.m. Children’s Harbor Tour
12:30-1:30 p.m. Lunch
1:30 p.m. Closing Remarks
Applications of the CRISPR/Cas9 Gene Editing Technology
A question that frequently arises related to NF research is regarding the application of the gene editing technology CRISPR/Cas9 system. This technology allows investigators to “edit” the genome by targeting a particular gene sequence and changing it to something different. The technology has received a good deal of publicity lately, including a recent feature on the cover of TIME magazine.
The system has immediate application for creating models of disease. For example, if an investigator wants to create a mutation in mice or stem cell lines, the CRISPR/Cas9 enables targeting of the NF gene and introduction of a mutation. Our NF research program is currently using the technology for this purpose. The question is whether the technology could be used to restore the mutated gene back to normalcy. The challenge here is in targeting all the cells in the body. With a condition such as NF, in which the mutation causes the lack of production of a substance (neurofibromin) that affects growth of specific cells throughout the body, you would have to be sure to target every cell that could possibly form a neurofibroma. If you miss a cell that has the potential to form a neurofibroma, that particular cell could still grow into a tumor. For now, the technology does not enable correction of a mutation in every cell. There is much left to be learned about how the CRISPR/Cas9 system might be applied in the treatment of neurofibromatosis, however, so the possibility of it therapeutic use is in consideration.
NF Extremities Examination
Turning back to our previous discussion about what to expect during an NF exam, I’d like to briefly review what NF clinicians are focused on during an examination of the extremities. First, plexiform neurofibromas can affect the brachial plexus, a network of nerves that originate near the neck and shoulder and send signals from the spine to the arm and hand. Plexiforms can also affect the lumbar plexus, a network of nerves in the lower spine that send signals to the pelvis and legs. Some plexiform neurofibromas can cause infiltration of nerves in these areas that can compress the nerves and cause pain. In some cases, the presence of plexiform neurofibromas in these areas can cause a visible overgrowth of the extremity. In other cases, the problem presents with lower back pain. An MRI will confirm lumbar involvement. Due to the location in the body, these tumors are not surgically accessible; however, it is sometimes possible to perform surgery to help relieve pain. The other primary treatment option is pain management.
Another extremity-related problem that can occur is bone dysplasia, which is an abnormality of a long bone, usually involving the tibia in the leg but sometimes also affecting the fibula or even bones in the arm. This problem sometimes presents as a bowing of the leg in infancy, although it can be hard to diagnose that early because most infants have some normal leg bowing. By the time a child can stand, one can usually determine if this problem exists. An X-ray is performed to confirm dysplasia, and the child is referred to an orthopedist for treatment with a leg brace to prevent fracture. If the bone does fracture, it can be hard to treat. Also, surgery is difficult because the bone is not well formed. For this reason, prevention of fracture is important when this problem exists.
Plexiform neurofibromas can also affect any part of the foot or hand. While it’s not possible to surgically remove all of the tumor, surgery can be performed to remove a portion of the tumor (debulking surgery). Lastly, certain types of tumors discovered fairly recently, called glomus tumors, can occur under the nail beds of the fingers and toes in adults with NF. Although they are not easily visible, they are usually exquisitely painful with pressure applied at the tips of fingers and toes. Fortunately, they can be removed surgically to eliminate the associated pain. It’s important for NF clinicians and patients to be alert to this potential problem.
Director's Blog
Upcoming NF Symposium at Children’s Harbor, Applications of New Gene Editing Technology, and a Review of the NF Extremities Exam
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- Written by: Bruce Korf
