Dr. Mazhar Adli, assistant professor of Biochemistry and Molecular Genetics, contributed to a study published last month in the scientific journal Neuron. The study, led by Harvard Medical School Prof. Christopher Walsh, outlines a method for identifying familial genetic mutations which contribute to the partial loss of gene function common in autism spectrum disorders.
The project used whole-exome sequencing, a process which cuts out and studies small portions of DNA called exons that code for functional proteins. Using this process researchers located regions of the genome that could be affected by the genetic variants associated with autism disorders, Adli said. According to the study, there are some rare alleles — variations of genes that code for certain traits — in genomes that contribute to the development of autism. In this study, researchers combined whole-exome sequencing and biochemical assays to pinpoint these variants and test whether they are the cause of autism spectrum disorders. For a particular sequence to be identified as contributing to the disease, it must cause a structural change in the protein it codes for.
“[Our] research differs from a lot of other genomic approaches,” Adli said. “It’s not just reported that Gene X is mutated or Gene Y is mutated; it is also testing that these mutations are actually causing the disease.”
This research confirms the complexity of the genetic architecture of autism, identifying a number of variants that contribute to the disease, but Adli said there is still a lot of work to do. “Currently, researchers are not aware of what 98 percent of the genome does,” Adli said. “We are only really beginning to understand the epigenome.”
Read More
Board of Visitors’ Health System Board approves University Medical Center contracts and credentials
By Lexie Stadler | March 3, 2024The University requested approval from the Board on proposed contracts with Cardinal Health LLC, a pharmaceutical company that will provide CAR T-cell therapies — a therapy used to treat cancer.
Virginia Senate passes bill to legalize medically-assisted deaths in 21-19 vote
By Zackary Holt and Caroline Hagood | February 26, 2024The House, which also holds a democratic majority, has referred the bill to the Committee for Courts of Justice for further consideration.
U.Va. Remote Area Medical chapter focuses on increasing healthcare access
By Saumya Sharma | December 13, 2023RAM members volunteer at clinics across the Southeast to provide free healthcare to local communities.
