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Cedars-Sinai Guerin Children’s Opens Angelman Syndrome Clinic

Patients seen at the Angelman Syndrome Clinic at Cedars-Sinai Guerin Children’s will have access to a team of specialists with expertise in this condition. Photo by Getty.
Patients seen at the Angelman Syndrome Clinic at Cedars-Sinai Guerin Children’s will have access to a team of specialists with expertise in this condition. Photo by Getty.
Patients seen at the Angelman Syndrome Clinic at Cedars-Sinai Guerin Children’s will have access to a team of specialists with expertise in this condition. Photo by Getty.

Children With the Rare Disease Can See a Team of Specialists in One Visit

Cedars-Sinai Guerin Children’s opened a clinic today to provide specialized multidisciplinary care for children with Angelman syndrome, a rare and severe neurodevelopmental condition.

Cesar Ochoa-Lubinoff, MD

Cesar Ochoa-Lubinoff, MD

“Children with Angelman syndrome present significant difficulties in their communication, motor and overall development. They have a sensitive and loving temperament but struggle regulating their emotions and behavior,” said Cesar Ochoa-Lubinoff, MD, director of Developmental-Behavioral Pediatrics at Guerin Children’s, who will head the new clinic. “Our team of experts aims to help parents access the best interventions for their children and navigate the challenges of this syndrome the best way possible.”

Angelman syndrome occurs in 1 in 15,000 births. It is caused by the lack of expression of the mother’s UBE3A gene. (The father’s UBE3A gene is silenced at birth in the human brain.) This condition causes developmental delays and behavioral and emotional regulation problems.

The Angelman Syndrome Foundation, a nationwide parent advocacy organization, is providing a grant to support the Angelman Syndrome Clinic at Cedars-Sinai Guerin Children’s.

Shervin Rabizadeh, MD, MBA

Shervin Rabizadeh, MD, MBA

Caring for children with Angelman syndrome is complex. Children typically need to be seen by different specialists to meet their medical needs: gastroenterology, neurology, epilepsy, genetics, developmental medicine, diet and nutrition, speech therapy, and occupational and physical therapy. The Angelman Syndrome Clinic at Cedars-Sinai Guerin Children’s will make it possible for children and their families to consult with multiple experts in one place.

“We look forward to supporting families with the top-notch expertise we’re able to provide,” said Shervin Rabizadeh, MD, MBA, associate director of Cedars-Sinai Guerin Children’s and chair of the Department of Pediatrics.

In addition to providing care, the clinic will collect data to help investigators understand the trajectory of the disease. The data will eventually be used for clinical trials comparing the efficacy of new drugs designed to treat Angelman syndrome.

Ophir Klein, MD, PhD

Ophir Klein, MD, PhD

“This clinic is a prime example of how Cedars-Sinai melds clinical care with research,” said Ophir Klein, MD, PhD, executive director of Cedars-Sinai Guerin Children’s and the David and Meredith Kaplan Distinguished Chair in Children’s Health. “This work is promising not only for the specialized care and medical advances it will bring to Angelman syndrome patients but also because discoveries related to rare diseases can lead to advances for more common diseases and conditions.”

The Angelman Syndrome Clinic at Cedars-Sinai Guerin Children’s is located in the Cedars-Sinai Steven Spielberg Building at 8723 Alden Drive, Los Angeles, CA 90048.

Families may make an appointment with the clinic by calling 310-423-7779.

Read more on the Cedars-Sinai Blog: Understanding Rare Diseases

Follow Cedars-Sinai Guerin Children’s on X (formerly known as Twitter) for the latest pediatric news from Cedars-Sinai.


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