CHECK BACK FOR UPDATED INFORMATION ON UBA5 AND OTHER RARE DISEASES RESEARCH PROJECTS
The main focus of the Foundation is to find a researcher or a research group that will specifically look at the UBA5 gene mutation/variance. We are also looking to support research for dystonia and epilepsy. We are currently enrolled with a Boston Children's Hospital Research group snd are speaking with the Boston Children's Trust on what specific area they will research for the funds we want to provide. The challenge is this is so rare that most don't want to research something that only affects 25-30 people. They are recommending a broader scope of dystonia or epilepsy.
We have always worked with UAB Department Genetics from day one of Austin's genetic testing, specifically the late Dr. S. Lane Rutledge, MD and now Dr. Anna C.E. Hurst, MD, MS. We continue to work with Dr. Hurst on research opportunities through UAB School of Medicine for rare genetic disease. There is also a known doctor in France that is very interested in the UBA5 gene mutation. More details to come.
Dr. Lane Rutledge suddenly passed away in 2019 and everyone who knew her, including our family was devastated. She was a world renowned doctor deeply cared for her patients. From the UAB Genetics website - Among the potential uses for these funds are support for trainees to present their research at national meetings, funds for families who can not afford the full cost of diagnostic molecular testing and social programs for the genetic counselors. This fund is a fitting tribute to Dr. Rutledge, and it reflects her dedication to genetics and her passion for helping patients with genetic disorders. Please consider making your gift today.
Through Austin's story and other approved children with UBA5 we will raise awareness for those with rare and genetic diseases and educate the public on the various types of diseases. Genetic rare diseases are the main focus for everything we do. Continue working with Boston Children's and others to research specifically for the UBA5 gene mutation and other genetic mutations. Research may also be on specific areas like dystonia or epilepsy. Research is needed for better medicines, improved testing and coordination of getting a diagnosis. Change is needed for improved medical care plans for patients with complex rare diseases, increased local home care resources for nursing, therapy and medical supplies.