A study found that nearly one-third of individuals from Ghana and Nigeria carry APOL1 variants that significantly increase the risk of chronic kidney disease. The researchers also discovered that having a single copy of the APOL1 gene increases the risk by 18%, while two copies increase it by 25%.
The NIH is establishing a network to integrate genomics into learning health systems, analyzing and improving the use of genomic information in patient care. The goal is to create generalizable knowledge and genomic medicine practices that can be shared with under-resourced settings, improving patient outcomes.
A study found that individuals with sickle cell trait have a 1.45-fold higher risk of venous thromboembolism, similar across all genetic ancestry groups. Carriers for Factor V Leiden had an even higher risk of blood clots compared to those with sickle cell trait.
Researchers found large language models are more accurate with concise, textbook-like medical questions than patient-written summaries. The models achieved higher accuracy when using standardized language, but struggled with variable phrasing and format of patient write-ups.
The NIH and NSF have partnered to provide funding for RNA research, focusing on structures, functions, and interactions of ribonucleic acid (RNA). Research groups will explore RNA sequencing, mapping of RNA modifications, and development of RNA-based technologies.
The study reveals remarkable variation between primate Y chromosomes, showing rapid evolution and previously unstudied regions. The researchers found that over 90% of ape X chromosome sequences aligned to the human X chromosome, while only 14-27% of ape Y chromosome sequences aligned to the human Y chromosome.
Scientists have discovered over 100 new genomic regions associated with blood pressure, explaining up to 12% of the differences between individuals. The findings also suggest potential new drug targets for blood pressure treatment and could lead to tailored treatments for hypertension.
Researchers optimized polygenic risk scores using ancestrally diverse genomic data to improve accuracy across diverse populations. The recalibrated tests provided a more accurate assessment of disease risk for individuals with varied ancestral backgrounds.
Researchers found that previous studies failed to account for mixed genetic lineages, leading to inaccurate results. By considering admixture in the population, they found no link between a genomic variant and traits like height or cholesterol levels.
The NIH is funding a $5.8 million educational hub at NCATSU to enhance diversity in genomic data science through cloud computing and provide students with access to genomic resources and tools. The program aims to support students from diverse backgrounds and create a more inclusive workforce.
A team of researchers has generated the first complete sequence of a human Y chromosome, uncovering important genomic features with implications for fertility. The new sequence reveals factors in sperm production and provides insights into medically relevant regions, such as the azoospermia factor region.
Children with mitochondrial disorders have a weaker and less diverse antibody response to viral infections due to altered B cell function. The study provides insights into how immune cells differ in these patients and how this affects their response to infections.
Researchers discovered that a tiny sea creature, Hydractinia, regenerates its entire body with help from aging cells, providing insights into the interconnectedness of healing and aging. The study suggests that senescence may have evolved as a regeneration mechanism in ancient animals.
Researchers at the National Human Genome Research Institute identified a potential treatment for disabling pansclerotic morphea, a severe inflammatory disease. They found that patients with the disorder have an overactive STAT4 protein and significantly improved symptoms with ruxolitinib, a JAK inhibitor.
Researchers have released a high-quality collection of reference human genome sequences capturing substantially more human diversity. The new pangenome includes genome sequences of 47 people, with the goal of increasing that number to 350 by mid-2024.
Researchers created a new mouse model of Down syndrome with milder cognitive traits, showing promise for developing precise treatments. The study's findings may help address the limitations of previous models and improve cognitive function in individuals with Down syndrome.
Researchers at NIH's National Human Genome Research Institute identified a gene, KTD1, that provides resistance to the K28 toxin in yeast. This discovery sheds light on the molecular mechanisms underlying toxin resistance and has implications for understanding human toxin resistance.
Verkko software assembles gapless human genome sequences quickly and precisely, enabling better assessment of genomic diversity and comparative genomics. This innovation accelerates efforts to generate complete genome sequences of various species, improving research and discovery in the field.
Researchers identified a rare neurological disease in three children associated with mutations in the ATG4D gene, which plays a crucial role in cellular recycling. The study suggests that this genetic variation may lead to insufficient cellular recycling, causing speech and motor impairment.
A large-scale genetic analysis identified microRNAs in human pancreatic cells strongly associated with type 2 diabetes. The study found specific microRNAs different in people with the condition, which may chart its course or inform drug therapies.
Researchers developed a genotype-first approach that traces genomic variants back to genetic disorders, discovering new relationships between genes and clinical conditions. This approach broadened traits and symptoms associated with known disorders and offered insights into newly described disorders.
Researchers used genomic data from over 4,000 dogs to identify 10 major lineages and behavioral traits that correlate with these lineages. The study found that genomic variations among dog breeds are related to the development of their nervous system, suggesting a link between canine and human brain function.
Researchers at the National Institutes of Health (NIH) have identified a pattern of gene activity in individuals with attention deficit hyperactivity disorder (ADHD), finding that genomic differences affect the expression of genes coding for neurotransmitters. The study, published in Molecular Psychiatry, provides new insights into the...
Researchers developed new educational materials to help individuals with sickle cell disease and their support networks learn about gene therapy clinical trials, benefits, risks, and treatment options. The project aims to facilitate engagement between the community and those conducting relevant clinical trials.
The NIH's MorPhiC program aims to systematically investigate the function of every human gene, focusing on protein-coding genes. By using cell culture models and null alleles, researchers will develop a catalog of molecular and cellular consequences of gene inactivation, shedding light on vital biological roles and disease mechanisms.
Researchers at NIH/National Human Genome Research Institute discovered a network of proteins necessary for restoring hearing in zebrafish through cell regeneration. The study identifies two families of transcription factors that work together to activate hair cell regeneration, offering potential insights into treating human hearing loss.
The NIH will fund a program to establish partnerships between universities and allow undergraduate students from diverse backgrounds to conduct genomics research and receive career development training. The goal is to strengthen the pathway for undergraduate students to pursue graduate education in genomics.
Researchers have published the first complete, gapless sequence of a human genome, enabling more accurate maps for chromosomes and discovery of over 2 million additional variants. This milestone advances our knowledge of chromosomal segregation and division.
Researchers have developed a polygenic risk score using diverse genomic data to predict elevated low-density lipoprotein cholesterol levels. This improves identification of genomic variants associated with blood lipid levels and provides a more accurate estimate of individual risk for heart disease.
Researchers studied the usage of population terms in a 70-year publication history of the American Journal of Human Genetics, finding changes in word usage and associations between terms. The study suggests that structural racism, social trends, and changing views on social constructs may be linked to these changes.
The NIH will renew funding for the Clinical Genome (ClinGen) resource, which collects and archives information on clinically relevant genes and genomic variants. This expansion aims to improve the effectiveness, transparency, and validity of clinical genomics research.
The NIH is funding a $185 million research initiative to study genomic variation and its impact on human health and disease. The project aims to identify relevant genetic variants for clinicians, leading to improved treatment options.
A study found that half of individuals who initially refused to receive secondary genomic findings changed their minds after receiving more detailed information. The research suggests that healthcare providers should give patients multiple opportunities to make and revise their choice.
The NIH is awarding $80 million to the Mendelian Genomics Research Consortium to develop new methods and approaches for identifying genetic causes of single-gene diseases. The consortium aims to significantly increase the number of Mendelian disorders with known genetic causes.
The NIH has expanded its Families SHARE workbook, a tool that helps people use their family history to assess their risk for heart disease, diabetes, breast cancer, and colorectal cancer. The study found that 70% of participants shared the workbook with family members and tried to assess their risk.
The NIH is investing $38 million to develop methods for using polygenic risk scores to predict disease in diverse communities. The new consortium will pool genomic information from existing and new datasets to improve the accuracy of polygenic risk scores across different ancestries.
Researchers at NIH/National Human Genome Research Institute developed a breath test to measure how well patients with methylmalonic acidemia respond to liver or combined liver and kidney transplants. The test assesses the severity of the disease and helps determine treatment efficacy.
The NIH has developed a framework for reporting polygenic risk scores, which provide an estimate of an individual's inherited risk for diseases. The new guidelines aim to improve the validity, transparency, and reproducibility of polygenic risk scores in clinical care.
Researchers successfully used DNA-editing to extend the lifespan of mice with progeria by correcting the accelerating aging disorder. The treatment restored normal DNA sequences in various organs and improved mouse lifespans from seven months to nearly 1.5 years.
The National Human Genome Research Institute has published its 2020 Strategic Vision, which describes cutting-edge research priorities and opportunities in human genomics. The vision identifies four focus areas: guiding principles, sustaining and improving genomic research, breaking down barriers, and compelling biomedicine projects.
Researchers identified VEXAS, a severe inflammatory disease caused by UBA1 gene mutations, revealing devastating consequences. The genome-first approach helped uncover the link between disparate diagnoses in patients with undiagnosed inflammatory conditions.
Researchers at NHGRI conducted a study to better understand the needs of patients with sickle cell disease regarding genome editing clinical trials. Participants showed higher genetic literacy levels than expected, but emphasized the need for accessible information about risks and benefits.
Researchers used genomics to discover the New Guinea singing dog still thrives in the Highlands of New Guinea. The study reveals that captive dogs have lost genomic variation due to inbreeding, threatening their survival.
The ENCODE Project has added millions of candidate DNA switches that appear to regulate gene expression in humans and mice, providing a new registry for assigning biological categories. Researchers used biochemical approaches to explore the entire genome rapidly and comprehensively, identifying regions with potential functional roles.
Researchers at NHGRI have produced the first end-to-end DNA sequence of a human chromosome, enabling the production of a complete human genome sequence. The achievement opens a new era in genomics research and will aid in gaining a comprehensive understanding of genome function.
A study by researchers at the National Human Genome Research Institute suggests that genetic variants associated with familial Mediterranean fever (FMF) may confer increased resistance to the bubonic plague. The findings propose a link between FMF and protection against Yersinia pestis, the bacterium responsible for the plague.
NHGRI researchers have identified genetic mutations associated with PFAPA syndrome, a periodic fever disorder that affects only children. The study reveals commonalities with other inflammatory conditions, including Behçet's disease and canker sores, and highlights the potential for new treatments and diagnostic tools.
Researchers studied Hydractinia's unique ability to produce germ cells nonstop throughout its life. The study found that the gene Tfap2 controls perpetual germ cell production in this animal, a process similar to humans but with distinct differences. This discovery could provide clues to human reproductive disorders.
A ClinGen panel validated three genes associated with long QT syndrome, disputing nine other genes linked to the condition. The study highlights the need for critical evaluation of gene-disease associations to prevent patient harm.
Researchers identified a new disease called CRIA syndrome, an auto-inflammatory disease caused by mutations in the RIPK1 gene. The condition is characterized by persistent fever and swollen lymph nodes from childhood to old age, leading to lifelong pain and disability.