Welcome to the Blarney Cup. After thirteen successful years as a tournament that was focused solely on fun and debauchery, we decided to make the tournament about a little bit more. Since 2011, we have raised money for two national foundations that are dedicated to raising money and finding a cure for Angelman Syndrome (AS), The Angelman Syndrome Foundation (ASF) and the Foundation for Angelman Syndrome Therapeutics (FAST).
As most of you know, our oldest son, Andrew was diagnosed in 2007 with AS, a neurogenetic disorder that occurs randomly and happens when there is an abnormality/deficit in Chromosome 15. There is a lot of scientific language that goes into great detail about AS, but to summarize – AS is characterized by global developmental delays, speech impairment, movement or balance disorders, sensory-motor disorders, seizures, strabismus, low muscle tone and a variety of behavioral issues. Drew has amazed us with what he has accomplished, and we look forward to his continued growth.
Scientists believe that AS is now the neurogenetic disorder with the greatest potential to be cured.
Angelman syndrome is monogenic, which means that all cases of AS stem from problems on one specific gene and not issues on multiple genes. But even more uniquely, that gene has an unusual mechanism attached to it—one that you don’t find in most others. It’s a phenomenon known as genomic imprinting, when one copy of a gene in an individual is expressed while the other copy is silent due to a chemical modification to the DNA. (This is rare. Most genes have two active copies.)
Having a healthy but silent copy of the gene in question, which is the case in most AS cases, means there could be not one but two potential ways to fix it: gene replacement therapy (fixing the impaired mother’s copy) or gene activation therapy (unsilencing the healthy father’s copy).
And the effects of that likely won’t stop with just AS: The gene that causes Angelman syndrome has been linked to several other diseases and genetic disorders involving learning and memory. The work researchers are doing could very well be the gateway to therapies for other disorders that affect the lives of hundreds of thousands of people around the world.
The national Angelman Syndrome Foundation (ASF)is a non-profit organization that provides numerous resources and information for families with an AS individual. ASF’s mission is to advance the awareness and treatment of AS through education, information, research and support for individuals with AS and their families. ASF sponsors a biennial national conference to bring together AS families and professionals dedicated to the cause. The conference provides opportunities to hear about the latest research, therapeutic techniques, long-term planning and networking with families.
The Foundation for Angelman Syndrome Therapeutics (FAST) is an all-volunteer organization of families and professionals dedicated to finding a cure for Angelman Syndrome and related disorders through the funding of an aggressive research agenda, education, and advocacy. The Foundation is committed to assisting individuals living with Angelman Syndrome to realize their full potential and quality of life. Our goal is to bring practical treatment into current medical practice as quickly as possible. It is our hope that grants we fund will lead to additional research support from government agencies, other funding sources and organizations around the globe. FAST is served by two boards; the Board of Directors and the Scientific Advisory Board. Together, we are working hard to bring practical treatment into current medical practice as quickly as possible.
Since 2011 we have raised over $240,000 for ASF and FAST, and we hope to make even a bigger donation this year.
Make a donation directly to the Blarney for Angelman Foundation via Paypal.
Your donation is 100% tax-deductible.