Articles tagged Human Disease
(93 results)

Yeast study suggests faulty proofreading is not to blame for link between cancer and DNA polymerase ε variants. Accurate DNA replication is a matter of life and death. The polymerases responsible for replicating DNA have built-in safeguards to defend genome integrity, including proofreading activities to correct their own errors. Abnormally error-prone variants of DNA polymerase…

In 1983, the median lifespan for people born with Down syndrome in the US was only 25 years. Today, due to better treatments for some of the most dangerous complications, that number has more than doubled. Despite these strides, many people with Down syndrome still die prematurely from congenital heart defects. In a recent study, Rambo-Martin…

Rhinocladiella mackenziei is a fungus that infects the human brain. It is the most common cause of neurological fungal infections in arid regions of the Middle East, and it is fatal in 70% of cases. However, little is understood about this lethal pathogen—not even its natural habitat. To learn more about the biology of R.…

There’s no doubt that an extra copy of chromosome 21 is what causes Down syndrome. There’s a lot of doubt, however, over which particular gene—or combination of genes—on chromosome 21 is the actual cause of its symptoms. To flesh out our understanding, geneticists must grapple with this large chunk of the genome that includes more…

Yeast and zebrafish are among the lab organisms being recruited to the search for rare disease cures. Rare diseases are not so rare. About 300 million people worldwide live with the more than 7000 individual diseases that are designated “rare” by the US government. But because each of these affect so few individuals, the usual…

Beer, doughnuts, and genetics textbooks have one thing in common: they were all made possible by collaborations between humans and yeast. Our fungal ally Saccharomyces cerevisiae resides not only in breweries, bakeries, and laboratories, but also sometimes in our own bodies—where, on rare occasions, it betrays us. S. cerevisiae is increasingly being reported as an…

The Genetics Society of America (GSA) is pleased to announce that Philip Hieter is the recipient of the 2018 George W. Beadle Award, bestowed in honor of his outstanding contributions to the genetics research community. Hieter is Professor of Medical Genetics in the Michael Smith Laboratories at the University of British Columbia. Geneticists across the…

Mutations that disrupt the gene BRCA2 dramatically increase the odds of developing breast and ovarian cancer—but such mutations aren’t enough to cause cancer on their own. To turn normal cells cancerous, some of BRCA2’s genetic interactors must also mutate. In an article recently published in GENETICS, Ding et al. sought to identify some of these genes.…

The prolonged and severe seizures suffered by those with pyridoxine-dependent epilepsy (PDE) can lead to brain dysfunction and death if not treated. Standard antiepileptic drugs are typically ineffective for people with this rare genetic disorder—instead, they need high doses of vitamin B6 in the form of pyridoxine or pyridoxal 5′-phosphate. But even with this supplementation,…

Guest post contributed by members of the GSA Early Career Scientist Communications and Outreach Subcommittee. In their bitter war with crop pests, farmers have two big guns: chemical pesticides and genetic engineering. But excitement has been building in the farming community for a new weapon that is unlike anything they’ve tried before, a pesticide 2.0.…

The yeast Candida albicans lives on and even inside many of us. Most of the time, its silent presence goes unnoticed, but this fungus can turn on its host, causing infections ranging in severity from annoying to life-threatening. For the yeast to become pathogenic, some of the C. albicans must transform from small, round cells…