Children’s Hospital of Philadelphia Launch New Clinic for Families Living withDup15q Syndrome

October 16, 2023

The Angelman Syndrome Foundation and the Dup15q Alliance are proud to announce plans to launch a new clinic at Children’s Hospital of Philadelphia (CHOP) to better serve the Angelman and Dup15q communities.

AURORA, Ill.Oct. 11, 2023 /PRNewswire-PRWeb/ — The Angelman Syndrome Foundation and the Dup15q Alliance are proud to announce plans to launch a new clinic at Children’s Hospital of Philadelphia (CHOP) to better serve the Angelman and Dup15q communities.

“We are excited to join other Angelman and Dup15q centers around the country to continue to provide quality care for individuals with these disorders,” said Eric Marsh, MD, an attending pediatric neurologist in the Division of Neurology (CHOP). “We look forward to continuing to build our knowledge about these conditions and are grateful for the opportunity to participate in this critical work.”

As a designated clinic, CHOP will become part of the Linking Angelman and Dup15q Data for Expanded Research (LADDER) Network. This distinction will foster collaboration between medical providers and industry partners to provide the best possible care to this patient population.

“We feel privileged to welcome CHOP to our family of Dup15q Clinics,” said Carrie Howell, Executive Director of Dup15q Alliance. “CHOP’s passion for driving excellent patient care will give our dup15q syndrome families confidence that they are receiving the care their child deserves. With an increase of patients being diagnosed with dup15q syndrome, this clinic will serve a critical need for our community.”

“We are honored to work with CHOP, as we unite forces to usher in a crucial clinic for this patient population,” said Amanda Moore, CEO of the Angelman Syndrome Foundation. “Our mission is to serve families by giving them the resources they need. This will strengthen that mission through clinical care and access to future treatments and clinical trials.”


The purpose of the LADDER Learning Network is:

  • Connecting families with experienced, highly specialized medical providers, through its ASF Clinics and Dup15q Clinics. Providers within the clinics have experience and expertise in treating these two rare disorders, which has historically been difficult for families to find.
  • Connecting medical providers with one another through monthly video calls to share information about their most challenging cases.
  • Connecting the industry with much needed locations to host clinical trials, with the benefits of having patients in place when they become available.
  • Maintaining the LADDER Database, its global network of patient data, to ease the burden of paperwork on families.


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 Syndrome is a rare neurodevelopmental disorder that results from extra genetic material of chromosome 15 in the 11.2 – 13.1 region and is one of the most common genetic variations associated with autism spectrum disorders and intellectual disability. Symptoms may include hypotonia, gastrointestinal issues, motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy, including infantile spasms.


The mission of the Dup15q Alliance is to empower individuals living with dup15q syndrome and other related rare diseases to reach their full potential by advancing breakthrough research and life-changing therapeutic treatments, supporting families affected by dup15q, and promoting advocacy. We envision a world where families, clinicians, and advocates enable dup15q individuals to thrive. To learn more, visit


The mission of Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure. To learn more, visit

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