Zeynep Coban Akdemir, Ph.D.

Assistant Professor, University of Texas Health Science Center at Houston

SFARI Investigator Website

As a computational biologist specializing in the genetics and genomics of Mendelian and complex disease traits, Zeynep Coban Akdemir’s career commenced with postdoctoral training under James R. Lupski at Baylor College of Medicine (BCM). During this period, she led diverse projects within the Center for Mendelian Genomics Program, contributing to our understanding of gene function and human phenotypes. She joined the University of Texas Health Science Center at Houston School of Public Health in January 2020 and is currently assistant professor of epidemiology.

Akdemir actively participates in the National Human Genome Research Institute’s BCM-Genomics Research to Elucidate the Genetics of Rare diseases (BCM-GREGoR) consortium as a Principal Investigator of UTHealth’s subaward. Recognized with the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) fellowship and co-investigator on multiple grants, her efforts are directed towards enhancing prediction models and classification schemes for protein truncating variants.

Funded Projects

Improving the prediction of nonsense-mediated decay outcomes for protein-truncating variants associated with autism

Awarded: 2024
Award Type: Pilot

SFARI Funded Publications

Biallelic variants in KIF14 cause intellectual disability with microcephaly. Makrythanasis P., Maroofian R., Stray-Pedersen A., Musaev D., Zaki M.S., Mahmoud I.G., Selim L., Elbadawy A., Jhangiani S.N., Akdemir Z. C., Gambin T., Sorte H.S., Heiberg A., McEvoy-Venneri J., James K.N., Stanley V., Belandres D., Guipponi M., Santoni F.A., Ahangari N., Tara F., Doosti M., Iwaszkiewicz J., Zoete V., Backe P.H., Hamamy H., Gleeson J., Lupski J., Karimiani E.G., Antonarakis S.E.

Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia and facial dysmorphism. Harms F.L., Girisha K.M., Hardigan A.A., Kortum F., Shukla A., Alawi M., Dalal A., Brady L., Tarnopolsky M., Bird L.M., Ceulemans S., Bebin M., Bowling K.M., Hiatt S.M., Lose E.J., Primiano M., Chung W., Juusola J., Akdemir Z. C., Bainbridge M., Charng W.L., Drummond-Borg M., Eldomery M.K., El-Hattab A.W., Saleh M.A., Bezieau S., Cogne B., Isidor B., Kury S., Lupski J.R., Myers R.M., Cooper G.M., Kutsche K.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Loviglio M.N., Beck C.R., White J.J., Leleu M., Harel T., Guex N., Niknejad A., Bi W., Chen E.S., Crespo I., Yan J., Charng W.L., Gu S., Fang P., Akdemir Z. C., Shaw C.A., Jhangiani S.N., Muzny D.M., Gibbs R., Rougemont J., Xenarios I., Lupski J., Reymond A.