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RASopathy Program

RASopathies are a group of genetic conditions so named because they are caused by problems in the RAS pathway. In living things, a pathway is a series of actions between chemical messengers that can lead to a specific change or response in that cell. The RAS pathway provides a way for the cells of our body to communicate that is essential to their function. This means it is important for proper growth, development and good health.

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@2022 Ann & Robert H. Lurie Children’s Hospital of Chicago

RASopathies include:

  • Cardiofaciocutaneous (CFC) Syndrome
  • Costello Syndrome
  • Mosaic RASopathies
  • Noonan Syndrome
  • Noonan Syndrome-Like Disorder with Loose Anagen Hair (NSLH)
  • Noonan Syndrome with Multiple Lentigines

Comprehensive Care

RASopathies impact numerous body systems, including the heart and blood vessels (cardiovascular), glands and hormones (endocrine) and nervous systems. Management of these conditions involves multiple specialists, and the coordination of care can be difficult. The RASopathy Program team at Lurie Children’s will help children and families coordinate appointments with different specialists, both within and outside of Lurie Children’s. This ensures that the proper care is received at the right time. Our team is dedicated to supporting and advocating for both the physical and emotional needs of children and their families.

Our Specialists

Carlos E. Prada, MD

Division Head, Genetics, Genomics and Metabolism; Valerie and George D. Kennedy Research Professorship in Human Molecular Genetics

Anne McRae, MMS, CGC, PA-C

Physician Assistant, Genetics, Genomics and Metabolism

Carolyn R. Serbinski, MS, CGC

Genetic Counselor II, Genetics, Genomics and Metabolism

What to Expect

The First RASopathy Clinic Visit

Visits to the RASopathy Clinic will be more involved than a typical visit to your pediatrician or primary care provider. In fact, the visit begins before you arrive. Our team reviews the child’s medical records, and a genetic counselor may call the child’s family, or caregiver, to discuss why the child was referred to us. The genetic counselor will ask questions about the child’s medical and family history and tell you what to expect at the first appointment.

At the appointment, you will meet our RASopathy team, which includes a genetic counselor, physician assistant, and/or a geneticist (doctor), all who have expertise in RASopathies. We will review the medical and family histories, including prenatal (before birth), birth and developmental. A child’s developmental history gives us information about their key growth milestones. The visit will also include a physical exam. Our team will explain what next steps are recommended such as medical imaging, laboratory and genetic testing. Much of this testing can be done at Lurie Children’s, including genetic testing for many genes that are associated with RASopathies. We will also provide referrals to other specialists as needed.

Follow-up Visits

After the first visit, we will recommend regular follow-up with our team. This varies from every three months to annual visits. However, if any concerns arise between visits, our team is always available to

Make an Appointment

To schedule a first-time or return appointment, please call the Division of Genetics directly at 312.227.6120

Questions?

For more information, please call our Clinic Coordinator, Carolyn Serbinski at 312.227.4391

Research

Our team works closely with researchers who study RASopathies. Thus, we are informed of cutting-edge treatment and technology that may benefit the children in our care. We can connect interested children and families with opportunities to participate in research studies that can help us better understand the RASopathies and possibly contribute to the discovery of future therapies.

Resources and Support

More information about the RASopathies, support groups, and research projects are available at the following sites.

Noonan Syndrome Foundation
CFC International
Costello Syndrome Family Network
RASopathies Network