Dr. Stormy Chamberlain recently opened the doors of her University of Connecticut (UConn) Health Center laboratory to the Kelly Family of Plantsville. Marcy and Christopher Kelly’s eldest son Nicholas, age 3, was diagnosed with Angelman Syndrome (AS) when he was just 18 months of age. AS is a neurogenetic disorder that occurs in approximately one out of 15,000 live births. People with AS are developmentally delayed, have difficulty with balance and walking, sometimes laugh inappropriately and experience seizures. They are noted to have a happy demeanor and loving disposition, but many have limited or no speech and will require care for their entire lives. AS occurs equally in males and females and in all ethnic groups. It is often misdiagnosed as autism or cerebral palsy. Many, especially adults and minorities, remain undiagnosed. Studies have revealed links between AS and autism, but many families are still unaware that genetic testing is available to confirm an official diagnosis. Dr. Chamberlain was recently awarded a two-year, $200,000 grant from the Angelman Syndrome Foundation (ASF) to further her research using induced pluripotent stem cells (iPSC) to model and study human imprinting disorders, including Angelman Syndrome. Families from across Connecticut came together and brought their […]
Dr. Stormy Chamberlain recently opened the doors of her University of Connecticut (UConn) Health Center laboratory to the Kelly Family of Plantsville. Marcy and Christopher Kelly’s eldest son Nicholas, age 3, was diagnosed with Angelman Syndrome (AS) when he was just 18 months of age. AS is a neurogenetic disorder that occurs in approximately one out of 15,000 live births. People with AS are developmentally delayed, have difficulty with balance and walking, sometimes laugh inappropriately and experience seizures. They are noted to have a happy demeanor and loving disposition, but many have limited or no speech and will require care for their entire lives. AS occurs equally in males and females and in all ethnic groups. It is often misdiagnosed as autism or cerebral palsy. Many, especially adults and minorities, remain undiagnosed. Studies have revealed links between AS and autism, but many families are still unaware that genetic testing is available to confirm an official diagnosis. Dr. Chamberlain was recently awarded a two-year, $200,000 grant from the Angelman Syndrome Foundation (ASF) to further her research using induced pluripotent stem cells (iPSC) to model and study human imprinting disorders, including Angelman Syndrome. Families from across Connecticut came together and brought their […]