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.

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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