Angelman Syndrome Foundation and Dup15q Alliance Launch New Medical Network

Angelman Syndrome Foundation and Dup15q Alliance have entered into a strategic partnership to launch the LADDER Learning Network, a new medical network specifically designed for individuals with Angelman syndrome and dup15q—two rare disorders affecting the q-arm of the 15th chromosome.

LADDER Learning Network connects families through its ASF clinics and Dup15q clinics, to more than 40 medical professionals across the globe who have experience treating Angelman syndrome (AS) and dup15q. With 18 clinics in the United States and six partner clinics abroad, the Network includes clinical geneticists, genetic counselors, neurologists, psychiatrists, psychologists, speech pathologists, physical/occupational therapists, social workers, nutritionists, and other specialists.

Angelman syndrome is a rare neuro-genetic disorder that occurs in one in 15,000 live births (or 500,000 people worldwide). Common signs and symptoms, such as walking and balance disorders, gastrointestinal issues, seizures, and speech impairments, usually appear in early childhood. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother. It shares symptoms and characteristics with other disorders including autism, cerebral palsy, and Prader-Willi syndrome. It has no cure.

Dup15q is a rare neuro-genetic disorder that is estimated to occur in one in 5,000 live births. Common signs and symptoms, such as hypotonia (poor muscle tone), epilepsy, cognitive delay, motor delays, and autism, usually appear in early childhood. It is caused by duplication of a portion of the 15th chromosome. It has no cure.

“While Angelman syndrome and dup15q are different, the same set of medical providers often care for both populations of individuals,” said Elizabeth Jalazo, clinic director for LADDER Learning Network. “The combination of data collection and cross-disorder investigation is key to driving discovery.”

In addition to connecting families with experienced, highly specialized medical providers, the network will connect medical providers with one another through monthly video calls so they can share information about their most challenging cases.

It will also connect the industry with much needed locations to host clinical trials, with the benefits of having patients in place when they become available.

While the LADDER Learning Network is new, ASF has operated clinics since 2012, when it opened its first two locations in Chapel Hill, North Carolina and Boston, Massachusetts. LADDER Learning Network plans to launch four new clinics this year. Two opened in February—one at Boston Children’s Hospital and one at Children’s Hospital Los Angeles.

“Access to high-quality medical care is key for those with AS and dup15q to thrive,” said ASF CEO Amanda Moore. “Through our ASF Clinics, deserving families now have access to competent and knowledgeable care teams to get the answers they desperately seek.”

Photo: Amanda Moore, CEO of Angelman Syndrome Foundation

Author: Rare Daily Staff