Dr. Prokop studies the genetic mechanisms of disease with particular interest in rare and undiagnosed diseases.
Genomics is transforming our knowledge of diseases such as autism and DD/ID, yet identifying potential variants is only the first step in understanding disease risk, development, and treatment strategies. The Prokop lab utilizes bioinformatics and "big data" to develop working hypotheses for how variants from whole genome sequencing result in disease, moving these hypotheses into biochemical, molecular, and cellular etiologies of disease. The hypotheses are testing using a variety of cellular and animal systems including but not limited to induced pluripotent stem cells (iPSCs), primary cell culture and rodent models. With the coming age of precision medicine it is always important to remember that research needs to advance into a higher throughput operation that can keep pace with the timeline of clinical care and the tens of thousands of identified genomic variants if we hope to make Precision Medicine a reality.
Keele GR, Prokop JW, He H, Holl K, Littrell J, Deal A, Francic S, Cui L, Gatti DM, Broman KW, Tschannen M, Tsaih SW, Zagloul M, Kim Y, Baur B, Fox J, Robinson M, Levy S, Flister MJ, Mott R, Valdar W, Solberg-Woods LC. Genetic fine-mapping and identification of candidate genes and variants for adiposity traits in outbred rats. Obesity.
26(1):213-222 (2018). PMID 29193816
Prokop JW, Lazar J, Crapitto G, Smith DC, Worthey EA, Jacob HJ.
Molecular modeling in the age of clinical genomics, the enterprise of the next generation. Journal of Molecular Modeling. 23: 75 (2017).
Moller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Beben EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, Frange P, Ferrand-Sorbets S, Dorgmuller G, Lambrecq V, Larsen LHG, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S. Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurology:
Genetics, 2:e118 (2016). PMID 27830187.
Prokop JW, Tsaih SW, Faber AB, Boehme S, Underwood AC, Troyer S, Playl L, Milsted A, Turner ME, Ely D, Martins AS, Tutaj M, Lazar J, Dwinell MR, Jacob HJ. The Phenotypic Impact of the Male Specific Region of Chromosome-Y in Inbred Mating: The role of genetic variants and gene duplications in multiple inbred rat strains. Biology of Sex Differences, 7:10 (2016). PMID: 26848384.