Cathey, Sara

Assistant Clinical Geneticist

Cathey, Sara

Dr. Cathey is a clinical geneticist serving individuals of all ages. Her special areas of interest include birth defects, intellectual disabilities, and lysosomal diseases.

Dr. Cathey is principal investigator of the Longitudinal Studies of the Glycoproteinoses, a natural history study of this group of disorders including alpha-mannosidosis, beta-mannosidosis, aspartylglucosaminuria, fucosidosis, galactosialidosis, sialidosis, mucolipidosis II, mucolipidosis III, and Schindler disease. Her interest in these conditions was ignited by her patients, their families, and the unmet need for effective therapies. Greenwood Genetic Center has worked with ISMRD and other patient advocacy groups, industry, and academic institutions to advance research of rare diseases.

Dr. Cathey is certified by both the American Board of Medical Genetics (2007) and the American Board of Pediatrics (2000) and is a fellow of the American College of Medical Genetics and the American Academy of Pediatrics. Other professional activities include membership in the American Society of Human Genetics, the Society for Inherited Metabolic Diseases, the South Carolina Medical Association, and the Charleston County Medical Society.

Contact Information

Office (843) 746-1001
Fax (843) 746-1002


  • B.S., Pharmacy, University of Kentucky College of Pharmacy, 1993

  • M.D., Marshall University School of Medicine, Huntington, West Virginia, 1997

  • Pediatric Residency, Palmetto Richland Memorial Hospital, Columbia, SC, 1997-2000

  • Pediatrician, Tri-State Pediatrics, Ashland, Kentucky, 2000-2004

  • Medical Genetics Residency, Greenwood Genetic Center, 2004-2006

  • Assistant Clinical Geneticist, 2006-present

Selected Publications

  • Kerr DA, Memoli VA, Cathey SS, Harris BT. Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy. Arch Pathol Lab Med. 2011 Apr;135(4):503-10.

  • David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. The Natural History and Osteodystrophy of Mucolipidosis Types II and III. J Peadiatrics and Child Health. 2010 Jun;46(6):316-22. Epub 2010 Mar 29.

  • Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010; 47: 38-48. Published Online First: 16 July 2009.

  • Cathey SS and Holden KR. (2009) Chromosomal syndromes and developmental delay. In M. Shevell (Ed.) Neurodevelopmental disabilities: clinical and scientific foundations (pp. 241-264). Quebec, Canada. Mac Keith Press for the International Child Neurology Association.

  • Leroy JG, Cathey S, Friez MJ, (August 2008). Mucolipidosis III Alpha/Beta. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2008. Available at

  • Leroy JG, Cathey S, Friez MJ, (August 2008). Mucolipidosis II. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2008. Available at

  • Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet. 146A:512-3, 2008.
One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....

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