Feature Channels: Genetics

• share
• favorite_border

• share
• favorite_border

The accuracy of prostate-specific antigen (PSA) screening for prostate cancer can be improved by accounting for genetic factors that cause changes in PSA levels that are not associated with cancer, according to a multi-center study led by UC San Francisco and Stanford University, publishing June 1 in Nature Medicine.

• share
• favorite_border

Researchers recently discovered that extremely thorough “deep sequencing” of the genome in tissue samples and cell-free DNA of patients with potentially life-threatening vascular anomalies captured several genetic variants related to disease that were not captured with conventional genetic sequencing methods. More than 60% of patients saw an improvement in their condition after being placed on targeted therapies related to these newly found genetic variants.

• share
• favorite_border

A new study led by scientists at Uppsala University and INRAE/Université Paris-Saclay has discovered that the pro-viral host protein ZC3H11A plays a critical role in maintaining embryo viability during early development.

• share
• favorite_border

A new study finds a chemical formed when we digest a widely used sweetener is “genotoxic,” meaning it breaks up DNA. The finding raises questions about how the sweetener may contribute to health problems.

• share
• favorite_border

The Endocrine Society has selected five recipients for its Early Investigator Awards.

• share
• favorite_border

Researchers at Indiana University School of Medicine have discovered alternative gene splicing, which occurs during gene expression, can impact a person's risk of alcohol use disorder (AUD). They recently published their findings in Molecular Psychiatry.

• share
• favorite_border

Study suggests person-to-person transmission may not be the dominant mode of infection for an aggressive lung pathogen. Findings shed light on the behavior and mutation tendencies of a little-known microbe. The results should ease fears that the lung bacterium poses a grave threat for spread between individuals with compromised lung function who are waiting for lung transplants.

• share
• favorite_border

The early stages of embryonic development contain many of life’s mysteries. Unlocking these mysteries can help us better understand early development and birth defects, and help develop new regenerative medicine treatments.

• share
• favorite_border

A new method than enables researchers to dial up or tone down the amount of a certain metastatic protein inhibitor (BACH1) within a cell could provide a new path in cancer research that reassesses the effectiveness of protein inhibitors to treat disease.

• share
• favorite_border

The discovery suggests that one possible approach to treat glioblastoma would be a therapy that targets the metabolic process in patients who have that genetic alteration.

• share
• favorite_border

A study published by MBARI researchers and their collaborators today in Nature provides new insights about one of the earliest points in animal evolution that happened more than 700 million years ago.

• share
• favorite_border

People with a genetic predisposition for Alzheimer’s disease may have an increased risk of epilepsy and people with a certain type of epilepsy may have an increased risk of developing Alzheimer’s disease, according to a study published in the May 24, 2023, online issue of Neurology®, the medical journal of the American Academy of Neurology.

• share
• favorite_border

Scientists at St. Jude Children’s Research Hospital studied how the epigenetic landscape influences the binding of pioneer transcription factors, affecting access to DNA.

• share
• favorite_border

Read about how Scientists at St. Jude determined how the SWI/SNF chromatin remodeling complex helps cancer cells remember how to be cancerous after division.

• share
• favorite_border

University of Delaware researchers in the lab of Aditya Kunjapur, assistant professor in the College of Engineering’s Department of Chemical and Biomolecular Engineering, have engineered bacteria to synthesize an amino acid that contains a rare functional group that others have shown to have implications in the regulation of our immune system. The researchers also taught a single bacterial strain to create the amino acid and place it at specific sites within target proteins.

• share
• favorite_border

• share
• favorite_border

From advancing artificial intelligence to strengthening our national security, the 2023 Hertz Fellows will address the most pressing challenges facing our nation.

• share
• favorite_border

Cold Spring Harbor Laboratory (CSHL) researchers have flipped the script on autism spectrum disorder (ASD) genetics.

• share
• favorite_border

UT Southwestern Medical Center researchers have identified hundreds of genomic variants associated with autism spectrum disorder (ASD) in East African families who have a markedly higher prevalence of the neurodevelopmental condition than other populations worldwide. The study, published in Cell Genomics, is the first to investigate the genetics of ASD in an African population, an important step toward decreasing racial and ethnic health disparities for this condition, the authors said.

• share
• favorite_border

UC San Diego scientists develop an interactive software that enables scientists to better investigate the DNA damage response.

• share
• favorite_border

Neurons in a key area of the brain have different functions based on their exact genetic identity, and understanding this diversity could lead to better understanding of the brain’s computational flexibility and memory capacity, potentially informing disease treatment options, Cornell researchers report in a new study.

• share
• favorite_border

In a new study published in eLife, lead author Carolyn Elya, postdoctoral researcher in the Department of Organismic and Evolutionary Biology at Harvard, reveals the molecular and cellular underpinnings behind the parasitic fungus, Entomophthora muscae’s (E. muscae), ability to manipulate the behavior of fruit flies.

• share
• favorite_border

A team of researchers have discovered that a mutation in a ribosomal protein found specifically in heart and skeletal muscle leads to impaired cardiac contractility in mice.

• share
• favorite_border

Biologists have used machine learning, a type of AI, to identify “synthetic extreme” DNA sequences with specifically designed functions in gene activation. They tested 50 million DNA sequences and found synthetic DNA sequences with activities that could be useful in biotechnology and medicine.

• share
• favorite_border

Cairns joins renowned scientists as part of the Royal Society, known for its significant role in many scientific discoveries. Cairns is the second current faculty member elected at the U.

• share
• favorite_border

Since Michigan is the nation's leading producer of tart cherries, Michigan State University researchers were searching for the genes associated with tart cherry trees that bloom later in the season to meet the needs of a changing climate. They started by comparing DNA sequences from late-blooming tart cherry trees to the sequenced genome of a related species, the peach. However, in a surprise to the researcher, the genetic discrepancies between the species outweighed the similarities. This led the team to create the first annotated Montmorency tart cherry genome and identify the DNA segments that code for each gene.

• share
• favorite_border

Stony Brook University will honor the life and legacy of eminent paleoanthropologist, conservationist and politician Richard E. Leakey by hosting “Africa: The Human Cradle: An International Conference Paying Tribute to Richard E. Leakey” from June 5 - 9, 2023 at the university’s Charles B. Wang Center. The Turkana Basin Institute (TBI) and Stony Brook are hosting the conference, in partnership with the National Geographic Society. Thought leaders from around the world will celebrate the immeasurable, life-long contributions by Leakey to furthering the appreciation of Africa’s centrality in the narrative of human evolution.

• share
• favorite_border

DNA is well known as the blueprint of life, necessary for an organism to facilitate living processes. DNA can be damaged by various factors such as radical metabolites, radiation, and some toxic chemicals.

• share
• favorite_border

Molecular clocks in our cells synchronize our bodies with the cycle of night and day, cue us for sleep and waking, and drive daily cycles in virtually every aspect of our physiology. Scientists studying the molecular mechanisms of our biological clocks have now identified a key event that controls the timing of the clock.

• share
• favorite_border

The Association for Molecular Pathology (AMP) has published a report that was designed to establish recommendations for standardizing orthogonal confirmation practices for germline variants detected by next-generation sequencing (NGS) in The Journal of Molecular Diagnostics.

• share
• favorite_border

Investigadores de Cedars-Sinai han identificado una variante genética que aumenta el riesgo de las personas de desarrollar la enfermedad de Crohn perianal, la manifestación más debilitante de la enfermedad de Crohn.

• share
• favorite_border

Polygenic scores – estimates of an individual’s predisposition for complex traits and diseases – hold promise for identifying patients at risk of disease and guiding early, personalized treatments, but UCLA experts found the scores fail to account for the wide range of genetic diversity across individuals in all ancestries.

• share
• favorite_border

Two researchers from the University of Geneva (UNIGE) have discovered how to permanently transform the scales that normally cover the feet of chickens into feathers, by specificially modifying the expression of certain genes.

• share
• favorite_border

Researchers at Children’s Hospital of Philadelphia (CHOP) and the University of California, Los Angeles (UCLA) have developed a computational platform capable of discovering tumor antigens derived from alternative RNA splicing, expanding the pool of cancer immunotherapy targets. The tool, called “Isoform peptides from RNA splicing for Immunotherapy target Screening” (IRIS), was described in a paper published today in the Proceedings of the National Academy of Sciences.

• share
• favorite_border

At a glance: Researchers trace the origin of certain breast cancers to genomic reshuffling — rearrangement of chromosomes — that activates cancer genes and ignites disease. The finding offers a long-missing explanation for many cases of the disease that remain unexplained by the classical model of breast cancer development. The study shows the sex hormone estrogen — thus far thought to be only a fuel for breast cancer growth — can directly cause tumor-driving genomic rearrangements.

• share
• favorite_border

A new type of developmental disability caused by mutations in a gene known as CBX1 has been discovered by a UT Southwestern Medical Center researcher and his colleagues. The findings, reported in Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics (ACMG), offer insight into the role this gene plays in development and could eventually lead to therapies for a range of related disorders.

• share
• favorite_border

Proteins are large, complex molecules that play many critical roles in the body and are produced following the instructions encoded in DNA. By reading their DNA letters, cells produce an intermediate RNA molecule that will give rise to the corresponding protein. Most diseases occur with altered protein levels, which are either a cause or consequence of the condition itself. RNA plays a pivotal role in diseases with altered protein levels by serving as the intermediary messenger between DNA and protein.