Analysis of Genomic Variants in Populations

Admixure — Image: Sequencing and analysis of the Qatari genome. Analysis of the Qatari genome led to the identification of five sub-populations with distinct genetic ancestry. The genome is now being used to advance personalized medicine in Qatar (Rodriguez-Flores)

Areas Of Investigation

Pharmacogenomics
Precision medicine
Relationship between genomic variation and response to therapeutic drugs

Questions

Which genomic variants lead to differences in how a patient responds to medication, including gene therapy vectors?
How do genomic variants differ among human populations?

DGM presents data on genomic variants with potential to affect AAV-mediated gene therapy at the 26th Annual Meeting of the American Society for Gene and Cell Therapy, Los Angeles, CA, May 6th to May 11th, 2023

The Qatar National Research Fund introduces QChip1, a personalized medicine diagnostic device developed in partnership with the Department of Genetic Medicine at Weill Cornell Medicine (October 2019)

Publications

2023

Bradbury A, Bagel J, Swain G, Miyadera K, Pesayco J, Assenmacher C, Brisson B, Hendricks I, Wang X, Herbst Z, Pyne N, Odonnell P, Shelton G, Gelb M, Hackett N, Szabolcs P, Vite C, Escolar M . 2023. Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy. Mol Ther

Rostami M, Leopold P, Vasquez J, de Mulder Rougvie M, Al Shakaki A, Hssain A, Robay A, Hackett N, Mezey J, Crystal R . 2023. Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors. Mol Ther Methods Clin Dev

2020

Sondhi D, Kaminsky S, Hackett N, Pagovich O, Rosenberg J, De B, Chen A, Van de Graaf B, Mezey J, Mammen G, Mancenido D, Xu F, Kosofsky B, Yohay K, Worgall S, Kaner R, Souwedaine M, Greenwald B, Kaplitt M, Dyke J, Ballon D, Heier L, Kiss S, Crystal R . 2020. Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2. Sci Transl Med

2016

O'Beirne S, Salit J, Rodriguez-Flores J, Staudt M, Abi Khalil C, Fakhro K, Robay A, Ramstetter M, Al-Azwani I, Malek J, Zirie M, Jayyousi A, Badii R, Al-Nabet Al-Marri A, Chiuchiolo M, Al-Shakaki A, Chidiac O, Gharbiah M, Bener A, Stadler D, Hackett N, Mezey J, Crystal R . 2016. Correction: Type 2 Diabetes Risk Allele Loci in the Qatari Population. PLoS One

O'Beirne S, Salit J, Rodriguez-Flores J, Staudt M, Abi Khalil C, Fakhro K, Robay A, Ramstetter M, Al-Azwani I, Malek J, Zirie M, Jayyousi A, Badii R, Al-Nabet Al-Marri A, Chiuchiolo M, Al-Shakaki A, Chidiac O, Gharbiah M, Bener A, Stadler D, Hackett N, Mezey J, Crystal R . 2016. Type 2 Diabetes Risk Allele Loci in the Qatari Population. PLoS One