Fatima Abidi

Dr. Abidi came to the Greenwood Genetic Center (GGC) in 1995 as a Postdoctoral Fellow. She joined the Molecular Diagnostic Laboratory as a Clinical Molecular Fellow in 2012. After completing her fellowship in 2014, she assumed the position of Clinical Molecular Specialist. Upon her certification by the American Board of Medical Genetics and Genomics, she became Assistant Director of the Molecular Diagnostic Lab and was promoted to Associate Director in 2021. Her primary responsibilities include reviewing and interpreting molecular diagnostic tests, clinical report writing, and participating in the development of new test technologies and procedures.

Dr. Abidi’s past research interests focused on understanding the causes of X-linked Intellectual Disability (XLID) and birth defects. She has had extensive experience in long-range genome mapping, molecular cloning, mutation analyses, and the characterization of gene structure and function. Her research on the Coffin-Lowry syndrome has led to the identification of over 20 different mutations in the RPS6KA3 (RSK2) gene. She has done extensive work on the XLMR hypotonic facies syndrome (ATRX syndrome) where mutation analyses of the XNP gene have led to the identification of several different mutations that causes this syndrome. This work has also shown that mutations in the XNP gene cause a number of other similar syndromes such as Carpenter-Waziri syndrome, Holmes-Gang syndrome, and Chudley-Lowry syndrome. She was also involved with the identification of genes responsible for XLID on chromosome Xp11.4-Xp11.1, which has led to the identification of the mutation in the PQBP1 gene that causes Golabi-Ito-Hall syndrome.