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The Angelman Syndrome Foundation (ASF) and Cedars-Sinai Guerin Children's team up to launch new clinic for families living with Angelman syndrome


News provided by

Angelman Syndrome Foundation

Feb 20, 2024, 10:15 ET

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The Angelman Syndrome Foundation is proud to announce a new collaboration with Cedars-Sinai Guerin Children's to launch a new clinic for patients with Angelman syndrome, a rare neuro-genetic disorder.

AURORA, Ill., Feb. 20, 2024 /PRNewswire-PRWeb/ -- The Angelman Syndrome Foundation is proud to announce a new collaboration with Cedars-Sinai Guerin Children's to launch a new clinic for patients with Angelman syndrome, a rare neuro-genetic disorder.

The clinic is led by Cesar Ochoa-Lubinoff, MD, MPH, director of Developmental-Behavioral Pediatrics at Cedars-Sinai Guerin Children's, who previously co-directed the Angelman syndrome clinic at Rush University Medical Center in Chicago. The new Guerin Children's clinic includes specialists from neurology, genetics, developmental medicine, diet and nutrition, gastroenterology, speech, occupational therapy, behavioral therapy, physical therapy and social work.

"In my experience, families facing Angelman syndrome are resilient, but they need a supportive medical team in place," said Cesar Ochoa-Lubinoff, MD, MPH, director of Developmental-Behavioral Pediatrics at Cedars-Sinai Guerin Children's.

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"In my experience, families facing Angelman syndrome are resilient, but they need a supportive medical team in place," Ochoa-Lubinoff said. "With this multidisciplinary clinic, we hope to bring the highest level of care in the most comprehensive and easily accessible way possible to patients experiencing this severe condition."

Angelman syndrome is a rare neuro-genetic disorder that occurs in 1 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.

"Today, as we inaugurate the Angelman Syndrome Clinic at Cedars-Sinai Guerin Children's under the visionary leadership of Dr. Cesar Ochoa-Lubinoff, we embark on a journey of hope, compassion, and transformation," said Amanda Moore, CEO of the Angelman Syndrome Foundation. "Dr. Ochoa-Lubinoff's unparalleled experience sets the stage for this clinic to be a beacon of care and innovation, offering a lifeline to those touched by Angelman syndrome. Together, we will illuminate the path to a brighter future for the Angelman community, one filled with possibilities and unwavering support."

Cedars-Sinai Guerin Children's is committed to contributing to the Linking Angelman and Dup15q Data for Expanded Research (LADDER) data repository, as well as working to develop partnerships with physicians at Cedars-Sinai who treat adults with Angelman syndrome. At 25 years old, patients will transition care to an adult physician.

The Angelman Syndrome Clinic is at Cedars-Sinai in the Steven Spielberg Building, located at 8723 Alden Drive, Los Angeles, CA, 90048. Families may make an appointment by calling 310-423-7779.

ABOUT LADDER LEARNING NETWORK

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, so they can 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.

ABOUT ANGELMAN SYNDROME FOUNDATION

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 Angelman.org.

Media Contact

Amanda Moore, Angelman Syndrome Foundation, 1 317-514-6918, [email protected], https://www.angelman.org

SOURCE Angelman Syndrome Foundation

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