The past few months our webcast has featured a winner from our Annual Abstract Challenge, and we are happy to have our second place winner, Hilal Al Shekaili, as our speaker for September. Hilal’s submission surrounded novel genetic variants in a consanguineous family with pyridoxine-dependent epilepsy, and he will speak on his studies next Wednesday, September 9th (register here). To preclude the upcoming webcast, here is an introduction to Hilal and his research.
Before coming to Vancouver, Al Shekaili received his BSc degree in Biotechnology and his MSc in Biology from Sultan Qaboos University in Oman. Now, Al Shekaili is pursuing his Ph.D. at the University of British Columbia, with a focus on medical genetics. He conducts his research in the Friedman Lab in the Department of Medical Genetics, which is affiliated with the Child and Family Research Institute. The Friedman Lab is involved in three primary research areas including teratology research, neurofibromatosis, and research on candidate genes for intellectual disability and rare diseases.
Al Shekaili’s research is in rare, autosomal recessive disorders, specifically pyridoxine-responsive epileptic encephalopathies (PREE). Currently, Hilal and his colleagues at UBC are undertaking a research project to identify novel genetic causes in unexplained forms of pyridoxine-dependent epilepsy (PDE), a special type of PREE with an estimated incidence of 1:20,000 to 1:750,000. In most affected infants, PDE is caused by mutations in the antiquitin gene (ALDH7A1) and subsequent inactivation of α-aminoadipic semialdehyde dehydrogenase (antiquitin, ATQ).
In his upcoming webinar, Al Shekaili will cover how he and his team used whole-genome SNP genotyping, genome-wide runs of homozygosity (RoH) mapping using our SNP & Variation Suite™ software, and whole-exome sequencing to characterize the genetic defect underlying PREE in a consanguineous Omani Arab family with two affected children who have a PDE-like clinical picture but negative ATQ biomarkers. Don’t wait until the last minute, register now!
I have two daughters with this type of b6 dependent epilepsy. Age 18 months and 5 years. Both take 100 mg of pyrodoxine daily.