The National Human Genome Research Institute (NHGRI) has awarded $29.5 million over five years to fund two centers for advancing the human genome reference sequence. The centers will develop a multi-genome reference sequence representing 350 genomes, enabling researchers to find disease-causing variants with increased accuracy.
The NIH Genomic Innovator Awards provide funding to six institutions to support early career researchers studying genome biology and its applications. The awards aim to accelerate genomics research and promote flexible and ambitious research projects.
Researchers confirm known genomic variants and identify a novel ZRANB3 gene linked to T2D susceptibility in sub-Saharan Africans. The study's findings also suggest the gene may influence T2D development in other populations.
Researchers found 27 new genomic variants linked to conditions like blood pressure, type II diabetes, and chronic kidney disease in diverse populations. The study aimed to understand how genomic variants influence disease risk in different ethnic groups.
The National Institutes of Health will fund clinical trials to assess genomic medicine interventions for managing diseases such as high blood pressure, depression, and chronic pain. The trials aim to improve treatment outcomes by tailoring drug prescriptions based on patients' genetic makeup.
Researchers have discovered a hormone, fibroblast growth factor 21 (FGF21), is extremely elevated in mice with liver disease mimicking methylmalonic acidemia. FGF21 levels can predict liver severity and inform treatment decisions. The study may also shed light on common disorders like fatty liver disease and obesity.
The NIH's Clinical Genome Resource (ClinGen) and ClinVar programs are advancing knowledge connecting human genomic variation to human health. Researchers have developed a Gene-Disease Validity Framework to evaluate gene variants in diseases, improving the implementation of genomic medicine and patient care.
The NIH has completed a comprehensive genomic analysis of 33 cancer types, revealing new insights into tumor origins, progression, and vulnerabilities. The PanCancer Atlas provides a detailed understanding of how tumors arise in humans, enabling better informed clinical trials and future treatments.
The Genomic Ascertainment Cohort (TGAC) will allow researchers to recall genotyped individuals and investigate the influence of their genes and gene variants on phenotypes. The NIH will establish a new database of 10,000 human genomes and exomes, enabling predictions of conditions caused by specific genes or variants.
Researchers identified new genomic regions associated with skin color variation in African populations, providing insights into DNA damage caused by UV radiation. The study found links between genes involved in repairing DNA damage and skin pigmentation, potentially shedding light on skin disease and cancer risk.
The National Institutes of Health has completed a detailed atlas documenting the stretches of human DNA that influence gene expression across various tissues and cell types. This resource will aid researchers in understanding how individual genomic variation leads to biological differences, such as healthy and diseased states.
The Method for Introducing a New Competency in Genomics (MINC) website offers more than 100 resources to support nursing professionals in integrating genomics into patient care. The toolkit addresses the need for healthcare professionals to stay updated with changing healthcare environments.
A study by NIH and other institutions has extended noninvasive prenatal screening to all 24 human chromosomes, detecting rare genetic disorders that may explain miscarriage and pregnancy abnormalities. The research identified risk for serious complications in pregnancies with high levels of abnormal cells in the placenta.
The NIH is awarding $18.9 million to accelerate the use of genome sequencing in clinical care, focusing on diverse and underserved populations. The Clinical Sequencing Evidence-Generating Research (CSER2) Consortium will develop innovative approaches and best practices to integrate genomic medicine into healthcare settings.
Researchers found that cancer patients who interacted with other patients undergoing chemotherapy were more likely to survive for five years or more after treatment. The study suggests a possible link between social interaction and stress response in the context of cancer treatment.
Researchers have identified the genetic mutation MYMK as the cause of CFZS syndrome, a rare muscle disorder characterized by facial weakness and scoliosis. The discovery opens new avenues for diagnosis, treatment, and therapy development, including the use of CRISPR-Cas9 technology.
The Genetics/Genomics Competency Center (G2C2) has expanded its genomic resources for healthcare professionals. The website offers over 500 materials on genetics and genomics concepts for use in the classroom and clinic, including new resources on genomic technologies and genetic testing.
Researchers identified 22 genes-of-interest with mutation frequencies across the largest group of CCEC patients. They also uncovered mutations in the TAF1 gene and found similarities to serous endometrial cancer or endometrioid endometrial cancer in a substantial number of CCECs.
Researchers identified new genes associated with ultra-rare disease Erdheim-Chester disease, which affects multiple organs, and found connections to various types of cancer. The discovery may lead to improved diagnosis and new treatments for this rare condition.
Researchers developed facial analysis technology to diagnose 22q11.2 deletion syndrome, a rare genetic disease affecting 1 in 3,000 to 1 in 6,000 children. The software correctly diagnosed the disease in 96.6% of cases across different ethnic groups.
Researchers have identified a specific genomic variant linked to obesity in West Africans and African-Americans, highlighting the importance of genomics research in diverse populations. The variant, found in approximately 1% of individuals, increases their risk of obesity by about six pounds.
A recent NIH study identified 40 new genes affected by HIF1α in melanoma, offering potential new targets for treatment. The research also found connections between gene expression and the spread of cancer cells, which could help predict tumor progression.
Researchers at NHGRI found that iPSCs have the same mutation rate as subcloned cells, providing evidence of their stability and safety. This breakthrough enables further research and potential therapy development using patient-specific iPSCs.
The National Institutes of Health plans to expand its ENCODE Project, a genomics resource used by many scientists to study human health and disease. With additional funding, NHGRI will strengthen the foundation of high-quality data, tools, and analyses for research projects on genome sequences and gene regulation.
A study has found that a protein-folding gene plays a new role in wound healing, accelerating closure in diabetic mice. The researchers used zebrafish to test the hypothesis that Hsp60 promotes inflammation and cell proliferation, leading to tissue regeneration.
Researchers have successfully used gene therapy to correct the faulty NPC1 gene in mice with Niemann-Pick disease type C1, improving symptoms and lifespan. The treatment has the potential to halt disease progression and improve quality of life for patients.
Researchers identified otulipenia as a rare inflammatory disease affecting young children, characterized by fever, skin rashes, diarrhea, and joint pain. The condition is caused by the malfunction of OTULIN, a single gene on chromosome 5, leading to an overproduction of inflammatory cytokines.
Researchers have identified a molecule, NCGC607, that shows promise as a possible treatment for Gaucher disease and Parkinson's disease. The molecule helps to break down cellular waste and reduce alpha-synuclein levels, suggesting a potential treatment strategy.
The NIH will fund four new research projects exploring the use of genomic information in infectious disease prevention and treatment, as well as its impact on privacy and communication. The projects will also examine genomics' effects on American Indian and Alaskan Native communities.
The NIH has created an atlas of human malformation syndromes in diverse populations to help diagnose genomic diseases. The atlas features photos and descriptions of people with different inherited conditions, allowing healthcare providers to diagnose patients from non-European ancestry more accurately.
Researchers have discovered a striking genomic signature shared by colon, lung, breast, stomach and endometrial cancers, which may be used to diagnose the disease at early stages. The methylation signature could lead to the development of a non-invasive blood test for cancer detection.
The National Institutes of Health has launched the Centers for Common Disease Genomics (CCDG) to explore the genomic contributions to common diseases such as heart disease and diabetes. The program will sequence tens of thousands of genomes from individuals with these diseases, aiming to identify genes and genomic variants underlying d...
The 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, identifying over 88 million sites that vary among people. This database will help researchers understand how inherited genetic variations contribute to disease risk and drug response, enabling the development of improved dia...
Researchers will develop computational methods to analyze millions of genomic variants and narrow down the set of candidate disease-causing variants. They aim to understand how non-coding genetic variation affects gene regulation and disease risk.
The Undiagnosed Diseases Network (UDN) has launched an online patient application portal called the UDN Gateway. The new system streamlines the application process and allows patients to be matched with top diagnostic teams and advanced diagnostic tools, aiming to improve diagnosis and care for those with undiagnosed diseases.
Researchers aim to better understand the genomic basis of diseases and tailor medical care to individual patients based on their unique genetic profiles. The NIH-funded projects will explore the potential medical effects of rare genomic variants in various genes and implement these findings in clinical settings.
Researchers found that patients with methylmalonic acidemia received more leucine than recommended, leading to growth and brain development problems. Reducing medical food intake resolved amino acid deficiencies without increasing protein intake.
Researchers at NHGRI create high-throughput gene editing system in zebrafish, allowing for simultaneous targeting and mutation of multiple genes. This method accelerates discovery of gene function and identification of disease genes in humans.
Researchers sequenced genomes of nearly 1,000 volunteers and identified genomic variants predicting rare diseases, with over 3% of the US population potentially affected. This study demonstrates the potential for predictive medicine using DNA sequencing, with implications for personalized healthcare.
Researchers analyzed gene activity in over 1,600 tissue samples to understand how genomic variants control gene expression and predispose people to diseases like cancer, heart disease, and diabetes. They identified common eQTLs across tissues and found a large number of tissue-specific eQTL genes.
The study found genomic similarities between head and neck cancer genomes and other cancers, including squamous cell lung and cervical cancer. Researchers also identified potential new drug targets and biomarkers for treating HPV-related head and neck cancers.
Researchers have identified a critical safety parameter related to AAV gene therapy, which can increase liver cancer risk. They found that modifying the vector to avoid targeting specific genes reduces cancer incidence, paving the way for safer gene therapies.
The NIH has awarded over $28 million in grants to decipher gene regulation and its role in human health and disease. Researchers will study gene networks and pathways in different systems to develop new treatments for diseases like cancer, diabetes, and Parkinson's.
Researchers have found that mice and humans share similar genetic and biochemical programs for regulating gene activity, but also exhibit striking differences. The study provides insights into gene regulation and the use of mouse models to study human biology and disease.
Researchers have identified 107 genes that contribute to the risk for autism spectrum disorder (ASD), highlighting three key pathways: synaptic function, chromatin remodeling, and transcription. These findings provide a better understanding of genetic and cellular changes in ASD and may eventually lead to potential therapies.
A comprehensive analysis of nearly 500 papillary thyroid carcinomas has provided new insights into the roles of frequently mutated cancer genes. The study identified molecular subtypes that can help clinicians determine tumor aggressiveness and potential responses to treatments.
The NIH has awarded over $64 million to six institutions to create a database of human cellular responses, known as the Library of Integrated Network-based Cellular Signatures (LINCS). This will improve scientists' understanding of cell pathways and aid in the development of new therapies for many diseases.
Researchers found powerful commonalities in biological activity and regulation among species, reflecting their shared ancestry. The studies revealed similarities in gene expression patterns, DNA packaging, and chromatin organization across human, fly, and worm genomes.
A new report provides a primer for doctors to effectively use clinical genome and exome sequencing in diagnosing rare childhood diseases. The technology has already identified the genetic cause of disease in about 25% of patients, including Charcot-Marie-Tooth disease and mental retardation.
Researchers have discovered a genetic variant linked to an increased risk of stroke and cardiovascular disease. The study found that variants in the FOCM pathway, which regulates homocysteine metabolism, are associated with differences in methionine processing, highlighting potential new targets for disease prevention and treatment.