Congress Recognizes Rare and Ultra-Rare Genetic Syndromes
The omnibus includes language to urge the Eunice Kennedy Shriver National Institute of Child Health and Human Development to research Angelman Syndrome and the ASXL Syndromes.
The U.S. Congress has passed the $1.7 trillion package to fund the government through October. Attached to the 4,000-page document sent to President Biden's desk will be a small provision that will remain largely unnoticed but mean so much to an exceptional group of individuals and their families. If signed into law, four rare genetic syndromes, ASXL-related disorders and Angelman syndrome will be recognized by Congress and President Biden. The language in the bill encourages the NIH to "expand funding for basic, clinical, and translational research" into these syndromes.
"I am happy that we raised awareness and promoted research into the Angelman and ASXL syndromes,” said Congressman Sempolinski (NY-23). “Acknowledging and studying these rare genetic syndromes is the first step in changing and improving lives. With this recognition, we have made a powerful and tangible difference for these individuals and their families."
"Most people have never heard of ASXL-related disorders. To have language recognizing Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers syndromes in this legislation is an effective step toward raising awareness and investing in research that can improve the lives of those who live with these complicated and poorly understood disorders. We are grateful that Congress has acknowledged these mutations' heavy impact on children and their families to help pave the way for additional research investment," said Amanda Johnson, Executive Director of the ARRE Foundation.
“Awareness of rare diseases like Angelman syndrome is the key to getting closer to resources, education, and treatments. This step is a major move in the right direction toward giving Angelman syndrome the exposure it needs to gain those vital supports. We are so thankful to see AS added to this list and feel it is a strong step in the right direction for our community, " said Amanda Moore, CEO of the Angelman Syndrome Foundation.
The ARRE Foundation is a patient advocacy organization that improves the quality of life for individuals living with ASXL syndromes through research. ASXL syndromes (ASXL1/Bohring-Opitz syndrome, ASXL2/Shashi-Pena syndrome, and ASXL3/Bainbridge-Ropers syndrome) are rare neurodevelopmental disorders that are caused by changes in the ASXL genes. Around 500 people are thought to have been diagnosed with it worldwide, but many more live without knowing it.
Very little medical or laboratory research has been done on these syndromes. Therefore, doctors and families have limited knowledge of what’s coming next for their children other than what parents learn from each other through online support groups. The ARRE Foundation is working to change that by growing the network of doctors and researchers studying these disorders and the genes that cause them. Building the body of research is how individuals with these complex and devastating disorders will live better, healthier, more inclusive lives.
Angelman syndrome (AS) is a rare neurogenetic disorder that occurs in one in every 15,000 live births, or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene on the 15th chromosome derived from the mother. Angelman syndrome shares symptoms and characteristics with other disorders, including autism, cerebral palsy, and Prader-Willi syndrome. Due to these common characteristics, misdiagnosis occurs often. People with Angelman syndrome have noticeable developmental problems between 6 and 12 months. Other common signs and symptoms usually appear in early childhood, like walking and balance disorders, gastrointestinal issues, seizures, and little to no speech. Despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor. An individual with AS will light up a room with a smile and laughter.
