Genetics

Brain cells receive sensory inputs from the outside world and send signals throughout the body telling organs and muscles what to do. Although neurons comprise only 10% of brain cells, their functional and genomic integrity must be maintained over a lifetime. Most dividing cells in the body have well-defined checkpoint mechanisms to sense and correct DNA damage during DNA replication.

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, Lisenka Vissers, and colleagues found that a new technique using long reads is even more effective at detecting complex causes. They report that 80–90% of cases were detectable, as stated in The American Journal of Human Genetics.

When we hear sounds, specialized cells in the cochlear nucleus are the first to process that information, enabling our brains to understand speech, enjoy music and recognize various noises. For decades, this area has been known to be a vital part of the auditory system; however, specific cell populations responsible for processing different sounds within the cochlear nucleus have not fully been understood or classified.

Researchers at Hospital for Special Surgery (HSS) have pinpointed a cellular target that could enhance the way osteoporosis and other metabolic bone diseases are diagnosed and treated. The findings, published recently in JCI Insight, reveal that circulating osteoclast precursor cells (cOCPs) play a pivotal role in bone loss. The study is also the first of its kind to establish a connection between cellular biomarkers and osteoporosis, offering a potential pathway for earlier detection and more effective therapies.

Opioid misuse and specifically opioid use disorder (OUD), continues to represent a significant U.S. public health threat, with more than 6 million Americans aged 12 and older meeting the criteria for OUD in 2022. Efforts to ease the crisis have included the development of genetic testing to identify individuals most at risk for OUD.

People genetically susceptible to Huntington’s disease often see their movement, mood, and cognition decline slowly over time. The cause is related to expansion of repeating DNA units, in which specific strings of genetic code—in this case, a series of cytosine-adenine-guanine nucleotides, or CAG, on one strand of the DNA and cytosine-thymine-guanine, or CTG, on the complementary strand—begin to repeat over and over, expanding to as many as 40 to 120 copies.

Genetic differences that contribute to how long a person will live and their risk of Alzheimer’s disease have been identified by researchers at UCL and the UK Dementia Research Institute (UK DRI).

Fiber is well known to be an important part of a healthy diet, yet less than 10% of Americans eat the minimum recommended amount. A study from Stanford Medicine might finally convince us to fill our plates with beans, nuts, cruciferous veggies, avocados and other fiber-rich foods.