Children’s Colorado clinic named Angelman center of excellence

Angelman Syndrome Foundation, Dup15Q Alliance bestow joint designation

Esteban Dominguez Cerezo, MS avatar

by Esteban Dominguez Cerezo, MS |

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A doctor uses a stethoscope to examine a child being held by an adult.

The Angelman Syndrome Foundation (ASF) and the Dup15Q Alliance have designated the Chromosome 15 and Related Disorders Clinic at Children’s Hospital Colorado as a center of excellence, a recognition of the comprehensive care the clinic provides to those with Angelman syndrome and its involvement in research.

The designation is given to health institutions capable of delivering specialized attention to Angelman patients. 

“My team is so grateful for this designation and for the support from the Angelman Syndrome Foundation,” Diana Walleigh, MD, clinic director and an associate professor at the University of Colorado School of Medicine, said in a hospital press release.

Children’s Colorado is one of only three clinics in the U.S. to carry the designation from both organizations, the hospital said. The Massachusetts General Hospital ASF clinic and the Carolina Institute for Developmental Disabilities at the University of North Carolina are the others, according to the ASF clinic directory.

Centers of excellence are clinics that have demonstrated a level of readiness for clinical trials, and may enroll patients in them. They are also “integral” in designing and implementing the LADDER database, a collaborative effort to collect Angelman and Dup15q syndromes patients data to expand and accelerate treatments and interventions, according to the ASF.

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Comprehensive care

“This designation is a reflection of years of incredible work by Dr. Walleigh and her team,” said Kevin Ess, MD, PhD, chief of neurology at Children’s Colorado. “We are excited at the potential of what our team can accomplish in the future with this new support.”

Angelman syndrome is a neurological disorder caused by a genetic defect in the UBE3A gene, usually due to a deletion in the region of chromosome 15. Angelman shares some similarities with Dup15q syndrome, which is also associated with the same chromosome but involves duplication of a portion of it, rather than deletion.

Both Angelman and Dup15q syndromes can lead to symptoms such as developmental delays, intellectual disabilities, seizures, and motor impairments.

The Colorado clinic delivers comprehensive, multidisciplinary care, focusing on resources for patients and caregivers such as access to specialists including neurologists, physical, occupational and speech-language therapists, genetics specialists, and dietitians.

“Our patients and families are amazing – there’s so much potential in each of our patients, and it’s my team’s job to help unlock that,” said Walleigh. “With this new designation we are hopeful to work toward finding a potential cure for AS [Angelman syndrome], through research, more therapies and more ways to support families.”