Dr. Akbar Ali Khan Pathan, PhD

Dr. Akbar Pathan completed his PhD in the field of comparative genomics in a bilateral collaborative program between Max Plank Institute (Germany) and Andhra University (India). He carried out his postdoctoral training at the Department of Biochemistry, Medicinal University of South Carolina, studying the role of FA2H deficiency on the Central nervous system dysfunction in mouse models. He later joined the Genome Research Center at King Saud University as an Assistant Professor Research and continued working on the identification and characterization of novel genetic variants in breast cancers using advanced technologies like Next Generation Sequencing (Illumina & Ion Torrent), microarray scanner (Illumina) and Q-RT-PCR (Applied Biosystems). He is the author of over 50+ scientific articles, editorials, chapters and reviews. Over the past three years Dr. Akbar is working with Integrated Gulf Biosystems as a Application Specialist assisting the pre-sales process by demonstrating the technical advantages of IGB products to customers and field staffs via seminars, Webex training and coordination of demonstrations to be run both locally and in other regions of Saudi Arabia and Middle East.

Title of Presentation

Application of Genomic tools in Screening Aneuploidies

The talk will purely focus on the recent developments in the field of genomics to screen for aneuploidy. It will focus on the following aspects:

1. Aneuploidy Detection by Ion Torrent Next-Generation Sequencing
2. The Ion ReproSeq™ PGS Kit with the Ion PGM System which allows for rapid and affordable detection of aneuploidies in all 24 sets of chromosomes for labs interested in rapidly and reliably assessing preimplantation embryos for aneuploidy.
3. The IONA test for advanced non-invasive prenatal screening test for Trisomy which is the first CE-marked in-vitro diagnostic (IVD) product for NIPT screening enabling clinical laboratories to offer a regulated NIPT in-house on Ion Torrent S5 XL next generation sequencer.
4. Rapid identification of aneuploidy of chromosomes 13, 18, 21, X & Y using QST*R Plus, which is the CE-IVD marked Quantitative Fluorescent - Polymerase Chain Reactions based single multiplexed tube runs on the principle of Sanger sequencing.