Sarah E. Raible, MS, LCGC

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Sarah E. Raible, MS, LCGC, is a genetic counselor, clinical director of the Center for CdLs, and rare disease core leader in the Roberts IMGC at CHOP.

Areas of Expertise: Pallister-Killian Syndrome, Clinical genetics, Cornelia de Lange syndrome
Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)


Sarah E. Raible, MS, CGC, is a genetic counselor, clinical director of the Center for Corneila de Lange Syndrome (CdLS) and Related Diagnoses, and rare disease core leader in the Roberts Individualized Medical Genetics Center (IMGC) at CHOP. She received her undergraduate training from Boston College and earned her master’s in genetic counseling from the University of Pittsburgh in 2012.

Since joining the CdLS Center in the summer of 2012, Raible’s focus has been on expanding clinical and research programs of the Center. She oversees all administrative and patient care operations for the Center and is the primary contact for families interested in our monthly multidisciplinary clinics, serving as a resource before, during and after their visit. Raible also assists families interested in enrolling in CHOP’s CdLS research studies or participating in the telemedicine/virtual consultation program.

Raible is the primary mentor and thesis supervisor for students participating in the Marie Barr Genetic Counseling Award and is spearheading several research projects related to the care and management of children with CdLS. She also has taken on oversight of the National Institutes of Health grants that help support the research mission of the Center.

Education and Training

Additional Training

American Board of Genetic Counseling — Certified Genetic Counselor (CGC)

Undergraduate Degree

BA in Biology - Boston College, Chestnut Hill, MA

BA in Psychology - Boston College, Chestnut Hill, MA

Graduate Degree

MS in Genetic Counseling - University of Pittsburgh, Pittsburgh, PA

Titles and Academic Titles

Clinical Director, Center for Cornelia de Lange Syndrome and Related Diagnoses

Genetic Counselor

Rare Disease Core Leader

Departments and Services

Research Interests

  • Cornelia de Lange Syndrome
  • Pallister-Killian Syndrome
  • Genetics of Hearing Loss

Leadership and Memberships

Memberships in Professional Organizations

American College of Medical Genetics

American Society of Human Genetics

National Society of Genetic Counselors