Ahituv selected for American Society of Human Genetics Scientific Achievement Award

Nadav Ahituv, PhD, a faculty member in the Department of Bioengineering and Therapeutic Sciences (BTS), a joint department of the School of Pharmacy and the School of Medicine, has been selected to receive the 2024 American Society of Human Genetics Scientific (ASHG) Achievement Award, for outstanding achievements and contributions to human genetics. The Ahituv Lab investigates gene regulatory elements and their relationship to human diversity and disease, and utilizes gene regulatory elements for gene therapy.

The award recognizes work that has had a demonstrable impact on the scientific direction of the human genetics field and/or other scientists, and comes with a $10,000 prize at the Society’s annual meeting Nov. 5-9 in Denver, Colorado. Ahituv will mark the occasion with a presentation that will be published in The American Journal of Human Genetics.

“This highly prestigious award is well-deserved and a huge honor from the biggest genetic society in the world,” said Dean Kathy Giacomini, PhD, BSPharm. “Nadav’s research journey since I personally recruited him to BTS in 2007 is a stellar example of what strong collaborative interactions among top scientists make possible.”

Ahituv’s lab is a member of the UCSF Institute for Human Genetics (IHG), which serves as the hub for all genetics activities at UCSF. Ahituv, whose research focuses on discovering gene regulatory elements in the human genome and linking mutations within them to specific phenotypes, has been a member of the IHG since its inception in 2006, and was appointed director in January 2023.

“We were pioneers in the idea that we could modify the activity of a regulatory element to rescue human diseases,” Ahituv says, referencing his 2018 publication in Science magazine for successfully targeting two top obesity genes, demonstrating that targeting regulatory “switches” allows therapy for gene dosage-related diseases. “Our lab also has developed various genomic tools to better understand the regulatory code so that we are able to understand how variation, and changes in it, can lead to a variety of different diseases.”

With most genetic diseases now, Ahituv said, science is only able to treat the symptoms, rather than correcting them. He is optimistic about being able to do so in the future.

“These are revolutionary times, not only for genetic sequencing, where you could detect and diagnose a disease, but also for gene therapy, where you can fix the genetic cause of the disease.”

Ahituv said pharmacists will be in demand when it comes to testing dosage, delivery, and safety of these therapies.

“AI has been very helpful as we work on building synthetic switches—DNA sequences that will respond to various inputs,” Ahituv said. “We've been trying to build better switches with our various high-throughput approaches to develop controlled therapies.

“AI has advanced a lot and has been very helpful in synthetic switch design,” he added. “So has the support from UCSF with starting companies and working with industry.”

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