Rachel Li, MD

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A Specialist in Genetics

Dr. Rachel Li specializes in clinical and pediatric genetics.

Her services include:

  • Interpreting genetic test results
  • Treating common and rare genetic disorders
  • Providing genetic family history education

Dr. Li is also an assistant professor at the University of South Dakota Sanford School of Medicine.

Speaks: English

Specialties

(605) 312-1000

Background Information

Education History

Fellowship:
Medical Genetics: Virginia Commonwealth University, Richmond, VA
Residency:
Pediatrics: Virginia Commonwealth University, Richmond, VA
Medical School:
Drexel University College of Medicine, Philadelphia, PA
Graduate School:
Drexel University College of Medicine, Philadelphia, PA
Undergraduate School:
Franklin & Marshall College, Lancaster, PA

Board Certifications:
American Board of Pediatrics
American Board of Medical Genetics and Genomics

Experience & Research

Professional Memberships:

  • American College of Medical Genetics
  • American Academy of Pediatrics

Selected Publications:

  • Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis
  • Eye manifestations of Shprintzen–Goldberg craniosynostosis syndrome: A case report and systematic review
  • HNRNPH1-related syndromic intellectual disability: Six additional cases suggestive of a distinct syndromic neurodevelopmental syndrome
  • Calorie restriction delays the progression of lesions to pancreatic cancer in the LSL-KrasG12D; Pdx-1/Cre mouse model of pancreatic cancer

Idea of Care

I strive to provide comprehensive care to all my patients and their families. My ultimate goal is to help families understand their child’s genetic needs and care.

Personal Interests

Dr. Li enjoys spending time with her family, cooking and reading.

Awards and Distinctions

Richmond Magazine: Top Docs (2021)

Additional Locations

Sanford Imagenetics

1321 W. 22nd St.
Sioux Falls, South Dakota 57105

(605) 404-4000

Ratings & Reviews

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