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Published on December 20, 2023
Life is like the changing of seasons, each uniquely beautiful. Just as autumn leaves fall to the ground and make way for winter’s gentle snow, life has transformational cycles. The cycle of life continues through the changing seasons, like how the autumn winds strip the trees of their leaves and…
Published on September 19, 2023
A new, freely available AI catalog has classified the potential effects of millions of missense genetic mutations, which could help establish the cause of diseases such as cystic fibrosis, sickle-cell anemia, and cancer. The AlphaMissense resource from Google DeepMind categorized 89% of all 71 million possible missense variants. This compares…
Published on June 15, 2022
Andrea Coravos, CEO, HumanFirst For Andy Coravos the tipping point was the Biogen Conference in Boston, February 2020. While only about 100 people attended the meeting, it became one of the most notorious super spreader events of the COVID-19 pandemic, ultimately leading to an estimated hundreds…
Published on April 8, 2022
Polygenic risk scores (PRS)—which quantify inherited risk by integrating multiple sites of DNA variation—promise a more personalized approach to medicine. For many years, academic groups have been grappling with the mechanics of creating PRS, relying on large-scale GWAS analyses from large patient cohorts like the UK Biobank and others to…
Published on March 8, 2022
Using one of the largest-ever samples of post-mortem brains, scientists have identified significant differences in gene expression in two specific regions of the brain—the subgenual anterior cingulate cortex (sACC) and amygdala—in patients who had bipolar disorder. Their findings suggest that this condition may stem from chemical and structural changes in…
Published on March 12, 2021
A C-to-G Base Editor (CGBE), using CRISPR, has been developed by a team of researchers from the Agency for Science, Technology and Research’s (A*STAR) Genome Institute of Singapore (GIS). This advance opens up treatment options for approximately 40% of the single-base substitutions associated with human diseases such as cystic fibrosis,…
Published on September 28, 2020
Molecular methods of diagnosing diseases promise fast and accurate approaches for an array of conditions. While many molecular diagnostics look for mutations in DNA, an increasing number analyze a sample’s RNA, and those are explored here. Manufacturers offer a variety of RNA-based diagnostics, and academic scientists continue to explore new…
Published on March 6, 2020
Scientists at Oregon Health and Science University (OHSU) in Portland, Oregon have performed the first-ever CRISPR gene editing procedure for a living person. This procedure was undertaken to address a blindness-causing gene mutation, and the goal is to restore vision to a patient with congenital blindness. …
Published on May 29, 2019
The co-founder of the World Science Festival, Brian Greene, opened the 2019 festival in New York on Tuesday evening by noting the capacity of our species to take hold of a process that was driven by random chance for four billion years. That process, of course, is the microbial immune…
Published on October 27, 2017
A new enzyme, called an adenine base editor (ABE), can directly repair the type of single-letter changes in the human genome that account for approximately half of human disease-associated point mutations. These mutations are associated with disorders ranging from genetic blindness to sickle cell anemia to metabolic disorders to cystic…