Researchers at NIH and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.

Genetic differences between people can cause or alter the severity of various diseases and influence the effectiveness of treatments. Scientists identify such genetic variants by comparing an individual’s genome sequence to a standard, which is known as a reference genome. An NIH-funded consortium has developed a reference “pangenome” that represents more human genetic diversity. The pangenome resembles a transit map, with different lines representing each component genome.

NCI has launched a large precision medicine cancer initiative to test the effectiveness of treating adults and children with new drug combinations that target specific tumor alterations. Known as the Combination Therapy Platform Trial with Molecular Analysis for Therapy Choice (ComboMATCH), the initiative is the largest of its kind to test combinations of cancer drugs guided by tumor biology.

A study from NIH shows that new cases of chronic pain occur more often among U.S. adults than new cases of several other common conditions, including diabetes, depression and high blood pressure.

A groundbreaking study provides national and state-level estimates of the economic burden of health disparities by race, ethnicity and educational levels. New research shows that the economic burden of health disparities in the United States remains unacceptably high.

Vigorous exercise does not appear to increase the risk of death or life-threatening arrhythmia for people with hypertrophic cardiomyopathy (HCM), according to a study supported by NIH.

NIH scientists have identified new genetic risk factors for two types of non-Alzheimer’s dementia. The findings were published in Cell Genomics and detail how researchers identified large-scale DNA changes, known as structural variants, by analyzing thousands of DNA samples.

NIH researchers and colleagues have developed a zebrafish model that provides new insight into how the brain acquires essential omega-3 fatty acids, including docosahexaenoic acid (DHA) and linolenic acid.

Among people who have had Covid-19, adults with obstructive sleep apnea were more likely to experience long-term symptoms suggestive of long Covid than those without the sleep disorder, according to a large study supported by NIH.

Children with multisystem inflammatory syndrome (MIS-C)—a rare condition linked with the virus that causes Covid-19—have biochemical indicators of cell injury and cell death that are distinct from other children with Covid-19, according to a study funded by NICHD.