RASopathies Center
The RASopathies Center at Children’s Hospital of Philadelphia (CHOP) specializes in providing comprehensive and personalized care to children with disorders that disrupt the RAS/MAPK pathway (commonly referred to as “RASopathies”).
This pathway plays important roles in cell growth, cell signaling and development. When this pathway is disrupted, it can lead to many different conditions.
Children with RASopathies often require medical management from several specialists, which can be overwhelming. The RASopathies Center at CHOP is dedicated to coordinating evaluations with specialists across the hospital, creating individualized care plans for each patient, and supporting patients and their families each step of the way.
How we serve you
Our RASopathies Center offers a variety of programs and services to support children with RASopathies and help families access the full range of resources and multidisciplinary care available at Children’s Hospital of Philadelphia.
Conditions we treat
The RASopathies Center provides care to patients with a diagnosis affecting the RAS/MAPK pathway, such as Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. Patients with Neurofibromatosis can receive expert care through CHOP’s Neurofibromatosis Program.
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Noonan syndrome - Noonan syndrome with multiple lentigines (NSML)
- Cardiofaciocutaneous (CFC) syndrome
- Costello syndrome
- Noonan syndrome-like disorders (CBL, SHOC2)
Why choose us for RASopathies
The RASopathies Center is led by Rebecca Ahrens-Nicklas, MD, PhD, and Alyssa L. Rippert, MS, LCGC, who both have special expertise in diagnosing, managing and treating patients with RASopathies. Our team includes geneticists, genetic counselors and a neuropsychologist. We coordinate with specialists across CHOP to provide individualized care for each patient.
Meet your team
Our team of geneticists, genetic counselors and a neuropsychologist work with a variety of departments at CHOP – including the Cardiac Center and Cancer Predisposition Program – to provide individualized treatment and care continuity for children with RASopathies.
Our research
The RASopathies Center at CHOP has numerous ongoing research studies designed to improve our understanding of the clinical spectrum of these disorders, their disease severity, and quality of life for individuals with RASopathies.
Your donation changes lives
Philanthropic donations to the Division of Human Genetics fuel breakthrough discoveries and lead to new treatments for children.
