RESEARCH
A majority of funds raised through A1F go to support research projects and clinical programs focused on advancing diagnosis resources for undiagnosed diseases and creating FDA-approved treatment options and care resources for the UBA5 gene mutation, and all other rare diseases.
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The Raiden Science Foundation (RSF) was started by another UBA5 warrior's parents, and their mission is to Harness the power of family, community, and science to accelerate the development of effective UBA5 therapies. Their VISION is to Create a future where there are paths forward for treating rare diseases and empowering families to make a difference. RSF has partnered with Oregon Health & Science University to significantly advance the understanding of the disease and open new therapeutic pathways. Check out the video below and read about the study at OHSU by Dr. Ruth Napier and Dr. Jonathan Pruneda. Check out RSF's work at www.raidenscience.org
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We've worked with the University of Alabama at Birmingham (UAB) Department of Genetics from day one of Austin's genetic testing, specifically the late Dr. S. Lane Rutledge, MD, and recently Dr. Anna C.E. Hurst, MD, MS. We continue to work with this great team of experts at UAB to help fund the Undiagnosed Diseases Program (UDP) that seeks to establish diagnoses for children and adults with chronic, undiagnosed conditions. Our goal with this program is to make it self-sustaining and maximally accessible to all patients.
Rare diseases are the focus of everything we do. 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, and increased local home care resources for nursing, therapy, and medical supplies. Awareness and Support are needed for those living with a rare disease, whether they are the patient or sometimes the forgotten caregivers.
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Through our annual Austin's 1st Christmas charity event, we partner with the Children's Hospital of Alabama Foundation to raise funds for the pediatric Center for Childhood Cancer and other Blood Disorders. According to NIH, Childhood cancer is a rare disease, with about 15,000 cases diagnosed annually in the United States in individuals younger than 20 years. We are proud to support Children's Hospital of Alabama, it is a special place that provides world-class care and services for many children and their families, including Austin and our family.
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Austin's Hero and Rare Disease Champion:
Dr. Lane Rutledge suddenly passed away in 2019 and everyone who knew her, including our family, was devastated. She was a world-renowned doctor who deeply cared for her patients, including Austin. 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 cannot afford the full cost of diagnostic molecular testing, and social programs for 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.
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