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Genomics: A Field On Fire

Dr. Michelle Hastings is steering the Center for Genetic Diseases into a future fueled by genomics. Her aim, to improve the health and lives of humankind, is both a reflection of and inheritance from the university's namesake, Rosalind Franklin, PhD, whose data was fundamental to the discovery of the double helix structure of DNA.

That discovery opened the door to a lifesaving science and technology that now occupies Dr. Hastings and numerous other RFU scientists.

"New genetic diseases are being discovered every day," Dr. Hastings said. "It's a field on fire. Our goal is to deliver options for people who learn that they either have a genetic disease or a risk for a genetic disease."

An expert in modulating gene expression, Dr. Hastings predicts that of the approximately 21,000 human genes, it is likely that mutations and variations in many will eventually be associated with pathological conditions — and that people will have access to this information. Personal genomics and genome sequencing are exploding, she said, as a diagnostic in the clinic and as more people access DNA testing through at-home genetic testing services, such as 23andMe and AncestryDNA.

A collaborative environment with other investigators in close proximity will strengthen our science and increase our impact. That's the goal of every lab.
Michelle Hastings, PhD

"People want to learn more about their personal genetics," she said. "That's creating a real need and desire for some solutions, which could include novel therapeutics, bioinformatic genetic support and counseling, and lifestyle and nutrition counseling to mitigate risk."

The center's research includes Dr. Hastings' quest to develop antisense oligonucleotide technology or genetic "patches," a therapeutic platform that has the potential to be applied to a large number of inherited maladies, such as Usher syndrome and Batten disease, currently under investigation, as well as other diseases with forms linked to genetic defects such as Alzheimer's and Parkinson's. Work on cystic fibrosis (CF), caused by a defect in the CFTR gene, consists of a multi- pronged investigation among several labs within the center with expertise in the mechanism of disease and approaches for treating disease conditions.

Dr. Hastings' vision for the center includes the addition of more expansive bioinformatic and computer analysis capabilities to mine genomic data to better understand population genetics and identify targets for therapeutics.

"We want to grow our pipeline of targeted diseases by designing intelligent approaches to therapeutics," she said. "This process includes understanding better the etiology and mutational landscape of disease."

Dr. Hastings is also looking forward to potential expanded collaborations with RFU scientists and investigators and entrepreneurs in the Innovation and Research Park.

"We can apply our approach for modulating gene expression to any number of human conditions," she said. "A collaborative environment with other investigators in close proximity will strengthen our science and increase our impact. That's the goal of every lab."

Posted July 2, 2018
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