Articles tagged Human Disease
(81 results)

Guest authors C. Brandon Ogbunugafor and Rafael F. Guerrero demystify higher order epistasis through a short story about the perfect brew. Epistasis is the flavor of the month Epistasis is one of the most popular and provocative topics in modern genetics. It has many different definitions, but one especially useful one is that epistasis is…

Prize recognizes extraordinary creativity and ingenuity in genetics research. Joseph Heitman, MD, PhD of Duke University is the recipient of the 2019 Genetics Society of America (GSA) Edward Novitski Prize. Heitman is honored for his work on human fungal pathogens and for identifying the molecular targets of widely-used immunosuppressive drugs. The latter work proved to…

A fruit fly model of fetal alcohol spectrum disorder reveals a Cyclin E-centric network modifies developmental sensitivity. Alcohol exposure in utero can lead to a wide range of developmental problems, even causing fetal death in some cases. But since this exposure doesn’t always have the same outcome, is it more likely to be a problem…

The recipient of the 2018 Crow Award reveals details of flu evolution at the smallest —and largest—scales. For many viral diseases, a vaccine can provide lifelong protection. But for flu, you need a new shot every year. The influenza virus evolves so fast it presents a constantly moving target for both our immune systems and…

An automated drug screening approach gives insight into rare NGLY1 deficiency. Sometimes, diagnosing and treating an illness is straightforward. Other times, the diagnosis is challenging while the treatment is simple—or vice versa. In the case of a rare disease like NGLY1 Deficiency, both diagnosis and treatment can feel unreachable. The complex challenges of rare diseases…

Sexual reproduction is scarce in skin infection culprit. While some people love to feel the burn during a workout, we generally seek that sensation in our muscles—not our feet. Treading barefoot in damp, communal environments like gym showers and the perimeters of pools can expose us to the fungus Trichophyton rubrum, the most common cause…

Watch presentations from the conference, including talks from Katie Peichel and Jonathan Pritchard. Now that the dust has settled from the whirlwind of the first ever standalone GSA Population, Evolutionary, and Quantitative Genetics Conference (PEQG18), we’re delighted to be able to share the audio and synched slides from the Keynote and Crow Award sessions. We’re…

New evidence for genome instability in fly tumors suggests key similarities—and differences—from human disease processes. Human cancers display a variety of abnormal genomic features, including increased numbers of single nucleotide variants (SNVs) and copy number variants (CNVs). However, a 2014 study on a fruit fly tumor detected no elevation of SNVs or CNVs compared to non-tumor…

A new fruit fly model of Leigh syndrome reveals the importance of mtDNA variation. Inherited mitochondrial disorders pose a perplexing problem to researchers and clinicians: people with the same condition can have vastly different clinical manifestations, even if they share the same mutation. For example, a neurodegenerative disorder called Leigh syndrome, which can be caused…

The “hyperspin” long-range enhancer deletion recapitulates disease phenotypes. In recent years, improvements in genetic testing have made it much easier to discover the causes of rare genetic diseases, but sequence data can also present new puzzles. Take split hand/-foot malformation-1 syndrome (SHFM1), which causes limb deformities, such as joined fingers, and sometimes deafness. Candidate culprits…

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…