Barb Bailus,PhD
Hello Everyone!
Today we want to congratulate our FIRE team member Dr. Anne Anderson for being awarded a highly competitive Million Dollar Bike Ride Grant in 2018 from the Orphan Disease Center . Dr. Anderson was awarded a $45,000 grant available for Angelman Syndrome (AS) in the 2018 edition of the MDBR event. The Million Dollar Bike Ride (MDBR) is an annual event hosted by the University of Pennsylvania Medical School Orphan Disease Center. At the event, teams from across the country ride 13, 34, or 72 miles around the greater Philadelphia area to raise money and awareness for a variety of rare diseases. The 2018 MDBR event attracted over 550 cyclists, raising over 8 million dollars and representing 27 different rare diseases. From amongst all of the participants, 38 researchers from 28 different institutions representing 23 different rare diseases received research grants.
Dr. Anderson’s lab at Texas Children’s Hospital focuses on neurodevelopmental disorders, with an emphasis on epilepsy. Her work in AS has centered on understanding the types of seizures, and seizure control, in patients with AS. The MDBR grant will go towards funding a new study that will focus on creating a “Standard of Care Guideline for Angelman Syndrome.” This study will create a standardized set of guidelines for assessment and clinical management of AS. Currently, families have to travel great distances to find a physician who is familiar with AS; this creates a hardship for many AS families and often results in sporadic visits instead of consistent check-ups with an AS expert. The hope is that this will produce a set of standards that can help guide physicians whom are unfamiliar with AS on how to both assess and manage individuals with AS, making it possible for families to have a more local physician familiar with their child’s medical needs.
To establish the guidelines, a consensus of key opinion leaders in the Angelman community, including clinicians, research scientists, biostatisticians and caregivers, will be assembled. Each of these individuals offers a unique viewpoint that will contribute toward establishing the standard of care guidelines. A variety of areas will be evaluated, ranging from sleep and seizures to nutrition and gastrointestinal issues. The key opinion leaders will conduct a literature search and analysis and then compile a report summary that will establish guidelines for a standardization of care that can be utilized by physicians. This standardization will be especially valuable as various potential treatments enter clinical trials, insuring that all patients’ needs are well understood by the physicians and companies involved in these trials. These guidelines are an essential piece for evaluating all potential treatments and cures for AS.