News by Subject Medicine & Health

By studying the effect of genetic variations on lifespan across the human genome, researchers have devised a way to estimate whether an individual can expect to live longer or shorter than average, and have advanced scientific understanding of the diseases and cellular pathways involved in aging. Their findings were presented at the American Society of Human Genetics (ASHG) 2018 Annual Meeting in San Diego, Calif.

Researchers at The Australian National University (ANU) have discovered a new genetic disease and a method for detecting more unexplained medical conditions.

Bacteria and Archaea have developed many types of CRISPR-Cas systems to protect themselves from viruses. A search through metagenomic databases of microbes, many of them uncultivatable, unearthed the genes of the smallest known working Cas complex, Cas14, from the genome of a DPANN Archaea, a group of microbes with the smallest known geomes. Cas14 is being incorporated into a CRISPR diagnostic called DETECTR.

By sequencing genetic material at a cell-by-cell level, researchers have described how type 2-high asthma affects the airways and results in mucus production with more detail than ever before. These findings, which help move forward scientific understanding of the biology behind asthma and could inform the development of targeted treatments for asthma and other airway diseases, were presented at the American Society of Human Genetics (ASHG) 2018 Annual Meeting in San Diego, Calif.

Scientists who performed the largest-ever genetic study of a puzzling type of adult-onset diabetes have uncovered new connections to the two major types of diabetes, offering intriguing insights into more accurate diagnosis and better treatment. Latent automimmune diabetes in adults (LADA) is a relatively common disorder that shares features of type 1 diabetes and type 2 diabetes.

Due to inadequate lab tests, an outbreak of multi-drug resistant tuberculosis in South Africa has remained undetected for no less than five years. An international team of microbiologists led by Dr Emmanuel André (KU Leuven, Belgium) and his South African colleague Ndivhuho Makhado present their findings in The Lancet Infectious Diseases.

In a study of 744 infertile men, prediabetes was found in 114 (15.4 percent) of participants.

Investigators from St. Jude Children's Research Hospital will present new findings at the American Society of Human Genetics annual meeting this week, including study results focused on the benefit of utilizing whole genome, exome and transcriptome sequencing for pediatric cancer patients.

Researchers from MIT and Massachusetts General Hospital have developed an automated model that assesses dense breast tissue in mammograms -- which is an independent risk factor for breast cancer -- as reliably as expert radiologists. This marks the first time a deep-learning model of its kind has successfully been used in a clinic on real patients, according to the researchers. With broad implementation, the researchers hope the model can help bring greater reliability to breast density assessments across the nation.