Skip to main content
Premium Trial:

Request an Annual Quote

Amyotrophic Lateral Sclerosis Genetic Risk Untangled in Mainland Chinese Populations

In the Journal of Medical Genetics, a Sichuan University-led team reports on findings from a genetic analysis of amyotrophic lateral sclerosis (ALS) in almost 1,600 individuals from mainland China with familial or sporadic forms of the disease. The researchers relied on repeat-primed PCR, targeted C9orf72 repeat testing or exome sequencing to compare genetic features in 64 familial ALS (FALS) cases and 1,523 sporadic ALS (SALS) cases with those found in 1,866 control samples, uncovering rare pathogenic or likely pathogenic variants in genes such as C9orf72, SOD1, FUS, or TARDBP in nearly 41 percent of the FALS patients and 8.5 percent of SALS patients. "Clinically, [pathogenic or likely pathogenic] variants in TARDBP and C9orf72 were associated with poor prognosis," the authors write, noting that risky FUS variants "linked with younger age of onset, and C9orf72 repeats tended to affect cognition." In addition, they write, tracking down the ALS mutation spectrum "is beneficial in drafting genetic scanning strategies, especially for patients with FALS and those with an age of onset younger than 30 years."

The Scan

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.

Sequencing Analysis Examines Gene Regulatory Networks of Honeybee Soldier, Forager Brains

Researchers in Nature Ecology & Evolution find gene regulatory network differences between soldiers and foragers, suggesting bees can take on either role.

Analysis of Ashkenazi Jewish Cohort Uncovers New Genetic Loci Linked to Alzheimer's Disease

The study in Alzheimer's & Dementia highlighted known genes, but also novel ones with biological ties to Alzheimer's disease.

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.