All articles tagged: Genetics

Borstel researchers are the first to develop a biomarker to predict the occurrence of neuropathic adverse events during therapy for multidrug-resistant tuberculosis. The results have now been published in the journal Pathogens & Immunity.

Osteoporosis—weakening of the bones with age—affects millions worldwide, and this figure is increasing annually as the global population ages. It is associated with the aging, or "senescence," of bone cells, but the underlying cell types and mechanisms were unclear.

A team of pediatricians, epidemiologists and preventive medicine specialists affiliated with several institutions in Israel and Denmark has found that children born to parents who were obese when they were 17 are more likely to be obese at the same age.

Genes can indirectly influence the age at which girls have their first period by accelerating weight gain in childhood, a known risk factor for early puberty, a Cambridge-led study has found. Other genes can directly affect age of puberty, some with profound effects.

Researchers from the Icahn School of Medicine at Mount Sinai have shed valuable light on the nuanced functions and intricate regulatory methods of RNA editing, a critical mechanism underlying brain development and disease.

When Michael Pirovolakis received an individualized gene therapy in a single-patient clinical trial at The Hospital for Sick Children (SickKids) in March 2022, the course of his condition was dramatically altered.

Scientists have generated a comprehensive map of the gene targets regulated by the transcription factors HNF4A and HNF1A in human pancreatic beta cells and liver cells. Published in the journal Nature Communications, the study revealed common and tissue-specific molecular pathways regulated by HNF4A and HNF1A, two proteins that possess important functions governing the development and function of

Neurogenetic disorders, such as neurofibromatosis type 1 (NF1), are diseases caused by a defect in one or more genes, which can sometimes result in cognitive and motor impairments. Better understanding the neural underpinning of these disorders and how they affect motor and cognitive abilities could contribute to the development of new treatment strategies.

For patients with schizophrenia, the single-nucleotide polymorphism (SNP) rs13194504 AA genotype is associated with reduced severity of tardive dyskinesia (TD), but is not associated with occurrence, according to a study recently published in Human Psychopharmacology: Clinical & Experimental.

Gender reveal parties are best known as celebrations involving pink and blue, cake and confetti, and the occasional wildfire. Along with being social media hits, gender reveals are a testament to how society is squeezing children into one of two predetermined gender boxes before they are even born.

A genetic variation common in people of African ancestry is associated with an increased risk of complications from diabetes, including diabetic retinopathy, according to a report published June 25 in the journal Nature Medicine.

Asthma patients experience respiratory distress due to allergens like house dust mites or pollen. However, the various triggers for asthma share a common pathway involving the release of proteins called type-2 cytokines by Type-2 helper T (Th2) cells and group-2 innate lymphoid cells (ILC2s). Both Th2 and ILC2 require high amounts of GATA-binding protein 3 (GATA3) for their maturation.

Many people are familiar with oncogenes—genes long known to be involved in cancers in humans, such as the gene Src. What's less widely understood is that oncogenes didn't evolve just to cause cancer in species, but rather to control events of normal growth and differentiation.

At Mayo Clinic, the mission to solve the unsolvable is at the heart of every rare disease case. Each diagnosis is a testament to perseverance, innovation and the relentless pursuit of answers.

In a small study, researchers have discovered how a set of genes could cause neurons to die in sporadic amyotrophic lateral sclerosis (ALS). The results, published in Nature Aging, provide insight into the root causes of ALS and may lead to new ways to halt disease progression.

Biliary atresia (BA) is a severe neonatal liver disease characterized by inflammatory and fibrotic obliteration of intrahepatic and extrahepatic bile ducts. This condition often leads to neonatal jaundice, cirrhosis, and portal hypertension, making it the leading cause of pediatric liver transplants.

Scientists at the Victor Chang Cardiac Research Institute in Australia have produced a first of its kind integrated map of heart cells which unlocks the process of cardiac fibrosis—a major cause of heart failure.

Glomerulus, the fundamental filtering unit of the kidney, is an intricate network of capillaries—small blood vessels that regulate the movement of ions, water, and metabolites while maintaining impermeability to essential macromolecules such as proteins.

Researchers at the Pacific Northwest Research Institute (PNRI) and collaborating institutions have made a discovery that could significantly advance our understanding of genomic disorders. Their latest study, published in the journal Cell Genomics, reveals how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases.

Researchers at The University of Texas MD Anderson Cancer Center have demonstrated that therapeutically restoring "youthful" levels of a specific subunit of the telomerase enzyme can significantly reduce the signs and symptoms of aging in preclinical models. If these findings are confirmed in clinical studies, there may be therapeutic implications for age-related diseases such as Alzheimer's, Park

An article published by Technion researchers in Nature presents new insights about the evolution of the immune system. The team's findings highlight the modularity and flexibility of the evolution of immunity.

A new study from deCODE genetics and collaborators is the first to uncover a strong recessive component in Alzheimer's disease.

Cellular models used to search for new therapies for myotonic dystrophy type 1 do not usually take into account the diversity of subtypes presented by patients. A study led by researchers from the Germans Trias i Pujol Research Institute (IGTP) has taken a step forward by developing three new models that represent this heterogeneity.

As a strategic initiative under IGTP, GCAT (Genomes for Life) continues to make substantial contributions to public health knowledge. The latest GCAT study, conducted through the COVICAT initiative, signed by Ximena Goldberg and Rafael de Cid, sheds light on the complex interplay between genetic predispositions and environmental stressors in determining depression risk, especially during the COVID

Scientists have discovered a new piece of the puzzle in understanding why some people are more susceptible to Alzheimer's disease. The research has been published in the journal Nature Communications.

Recent advances in genomic sequencing have revealed that 5–15% of children with cancer have an underlying genetic predisposition. Although genetic predispositions increase the risk for new tumors, it has been unclear when to begin surveillance for these tumors.

Genetic testing is not yet a standard component of workplace wellness programs, but what if it were? Researchers at The Jackson Laboratory and the University of Michigan aim to answer this question, and to consider the ethical and social implications associated with such offerings.

A team of international researchers, led by the University of Exeter, has discovered that people with a genetic variant that disables the SMIM1 gene have higher body weight because they expend less energy when at rest.

A scientific story that began with a discovery in just one extraordinary patient is now panning out. In 2019, an international team that included researchers from two Mass General Brigham hospitals—Mass Eye and Ear and Massachusetts General Hospital (MGH)—reported on the case of a patient who did not develop cognitive impairment until her late 70s, despite being part of a family at extremely high

Osteoporosis is a skeletal condition that leads to the weakening of bones, making them porous, fragile, and prone to breakage. A whopping 8.9 million fractures are caused by osteoporosis annually, with one fracture occurring every three seconds.

Common complications of pregnancy affecting fetal size may be caused by irregularities in the transport of amino acids across the placenta—a finding with therapeutic implications. Intrauterine growth restriction (IUGR) and fetal overgrowth affect 15%–20% of pregnancies worldwide.

Sepsis patients could be treated based on their immune system's response to infection, not their symptoms.

A new aging atlas gives scientists an in-depth view of how individual cells and tissues in worms age and how different lifespan-extending strategies might stop the clock. The work is published in the journal Nature Aging.

A new study by investigators from Mass General Brigham suggests that whether a person inherits risk of Alzheimer's disease from their mother or father influences the risk of biological changes in the brain that lead to the disease. By evaluating 4,400 cognitively unimpaired adults ages 65–85, the team found those with a history of Alzheimer's disease (AD) on either their mother's side or both pare

A new USC Leonard Davis School-led study highlights how transposons—commonly called "jumping genes" because of their ability to move to different parts of the genome—are associated with age-related disease and decline, as well as how additional genes governing transposon expression may one day be therapeutic targets for aging.

Researchers at the Francis Crick Institute, UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital for Children (GOSH) have designed a new genetic therapy that could alleviate debilitating giant moles in a rare skin condition.

Researchers from University of Tsukuba found that personalized guidance significantly reduced alcohol intake among young adults who habitually engage in excessive drinking. This guidance was based on individual genetic information related to alcohol metabolism. Their findings underscore the effectiveness of personalized alcohol-reduction strategies.

Researchers have discovered a better way of identifying those at high risk of potential heart attacks and strokes and other major cardiovascular disease (CVD) events.

It was earlier discovered that a variation in the PAX4 gene specifically predisposes East Asians to a higher risk of developing type 2 diabetes (T2D), increasing lifetime risk by up to 1.8 times. A new study, now published in the journal Nature Communications, reveals for the first time how an East Asian-specific PAX4 gene variant, R192H, impacts the development and function of beta cells in the p

Scientists at the UNIGE have identified the genetic sequences that regulate the activity of the genes responsible for bone growth.

A group of researchers from the University of Tartu and international scientists discovered new mechanisms of how stroke occurs by studying changes in mouse and human cells. The study, published in Circulation Research, lays the foundation for new, more precise treatment methods and better diagnostics, which could improve cardiovascular health in the future.

Though rare, medulloblastoma is the most common cancerous brain tumor in children. These tumors begin in the lower back part of the brain called the cerebellum, which is important for balance, coordination and movement. Medulloblastomas are embryonal tumors that grow from embryonal cells left over from fetal development.

Early detection and treatment of hereditary transthyretin-related amyloidosis via genetic counseling are crucial. Yet, not all at-risk individuals seek genetic counseling, and management for presymptomatic carriers remains unclear. To tackle these knowledge gaps, a research team from Japan conducted a retrospective study on over 200 people who sought genetic counseling at a medical center, sheddin

The largest genetic analysis of an autoimmune disorder known as systemic sclerosis ever conducted in an Asian population has uncovered six new DNA markers for this rare tissue disease—a discovery that promises to improve treatment for patients worldwide. The study is published in Nature Communications.

An unsuspected gene, Glis2, has been found to be a target of polycystic kidney disease (PKD) signaling in preclinical models.

A viral gene therapy developed by University at Buffalo researchers has reversed some brain abnormalities in infant mice with FOXG1 syndrome, a significant step toward one day treating children with this severe neurodevelopmental disorder.

VEXAS syndrome is a rare, adult-onset, life-threatening autoinflammatory disease caused by a genetic mutation. The pathophysiology is still unknown, but new work presented at the 2024 congress of EULAR—The European Alliance of Associations for Rheumatology—aims to provide a molecular and phenotypic characterization of hematopoiesis in VEXAS patients, and to develop cellular and humanized mouse mod

Mutations are changes in the molecular "letters" that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including cancer. Now, a new study introduces an original technique, called HiDEF-seq, that can accurately detect the early molecular changes in DNA code that precede mutations.

With space travel becoming more frequent, a new biomarker tool has been developed by an international team of researchers to help improve the growing field of aerospace medicine and the health of astronauts.

Researchers from Japan have uncovered the genetic diversity and regional patterns of CARD9 deficiency in patients susceptible to fungal diseases.

Metabolic syndrome (MetS) is a health condition characterized by a group of risk factors: high blood pressure, high blood sugar, unhealthy cholesterol levels, and abdominal fat. These factors increase the risk of heart disease, type 2 diabetes, and other serious health problems.

Determining the genetic and epigenetic factors that influence brain folding is the objective of the latest study co-led by the Neurogenesis and Cortical Expansion laboratory, directed by researcher Víctor Borrell at the Institute of Neurosciences (IN), a joint center of the Spanish National Research Council and the Miguel Hernández University (UMH) of Elche, and the laboratory led by researcher Vi

Each cell contains a set of instructions in its DNA that determines which genes are expressed and which are silenced. The correct programming of these so-called epigenetic programs, including DNA methylation, is essential for fertilization and development.

Investigators led by Tsutomu Kume, Ph.D., professor of Medicine in the Division of Cardiology and of Pharmacology, have identified novel genetic mechanisms that regulate blood vessel growth in the retina and may also serve as therapeutic targets for retinal vascular disease, according to a Northwestern Medicine study published in Nature Communications.

Researchers from Children's Hospital of Philadelphia (CHOP) have developed a new tool to help analyze data collected from spatial transcriptomics technologies (SRTs), which simultaneously profile gene expression and spatial location information in tissues to pinpoint which cells in which layers of tissue may drive various diseases.

Using an advanced artificial intelligence tool, researchers at the Icahn School of Medicine at Mount Sinai have identified rare coding variants in 17 genes that shed light on the molecular basis of coronary artery disease (CAD), the leading cause of morbidity and mortality worldwide.

Like treetops reaching high into the sky to sense the sunlight, our sensory neurons—whose role is to collect information about what is happening in and around the body—grow long, intricate extensions known as axons. These extensions spread out throughout the body, conveying various sensations in response to different stimuli. But who is the constant gardener making sure that these extensions don't

If a distressed stranger knocked on your door asking to use your phone, would you oblige? How about lending them a fiver for the bus, if they assured you they'd return and pay you back? In today's fractured world, trust seems elusive and divisions run deep. A lot of people find it hard to trust strangers, perhaps in particular those who are different to us.

Zhu Yangyang babbles away like a typical happy three-year-old, calling out for "mama" and "papa" and accurately naming colors—a remarkable achievement considering he was completely deaf just months ago.

Women are twice as likely as men to develop post-traumatic stress disorder, but the factors contributing to this disparity have largely remained unsettled. A research team led by Virginia Commonwealth University and Lund University in Sweden conducted the largest twin-sibling study of PTSD to date to shed light on how genetics may play a role.

A new study from deCODE genetics uses pedigrees and sequence data from 64,806 Icelanders to shed light on the rate and nature of mutations in mitochondrial DNA (mtDNA) and the peculiar dynamics of its maternal transmission.

Researchers at Columbia University College of Dental Medicine have developed an exosome-based platform, "safeEXO-Cas," that significantly enhances the delivery of CRISPR/Cas9 genome editing components to specific cells and tissues.

Researchers at the University of Kentucky Sanders-Brown Center on Aging are working to develop a pre-symptomatic disease diagnostic tool for Alzheimer's disease.

Dr. Raffaele Teperino, head of the "Environmental Epigenetics" research group at Helmholtz Munich, along with his research team, has examined the impact of paternal diet on children's health—specifically, the influence of diet before conception. The researchers focused on special small RNA molecules in sperm, known as mitochondrial tRNA fragments (mt-tsRNAs). These RNAs play a key role in the inhe

As humans age, hematopoietic stem cells—the immature precursor cells that give rise to all blood and immune cells—accumulate mutations. Some of the mutations allow these stem cells to self-renew and expand more effectively than their non-mutated counterparts.

Scientists have discovered genetic clues to the cause of restless leg syndrome, a condition common among older adults. The discovery could help identify those individuals at greatest risk of the condition and point to potential ways to treat it.

Maternal obesity impacts the eating behaviors of offspring via long-term overexpression of the microRNA miR-505-5p, according to a study publishing June 4 in the open-access journal PLOS Biology by Laura Dearden and Susan Ozanne from the MRC Metabolic Diseases Unit, Institute of Metabolic Science, University of Cambridge, UK, and colleagues.

TREX1 is a gene that is supposed to direct the maintenance of the entire body's DNA, but new research shows that when people are born with mutated TREX1, it causes catastrophic damage to the DNA over time, resulting in a deadly rare disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL). Published in Nature Communications, the research was led by teams at the Perelman School

In disease research, it's important to know gene expression and where in a tissue the expression is happening, but marrying the two sets of information can be challenging.

Australian and Chinese researchers have jointly discovered a genetic key to the development of the devastating autoimmune condition childhood lupus.

A team of researchers from the Case Western Reserve University School of Medicine has developed a new method for target DNA sequence amplification, testing and analysis.

Researchers from the University of Oslo have developed an innovative method to improve our understanding of heritable human traits and diseases. The analytical tool, called GSA-MiXeR, is designed to make sense of genetic data by focusing on the role of individual genes, and how groups of genes contribute to the risk of developing a disease. With it, researchers now have a powerful new way to trans

Researchers at the RIKEN Center for Integrative Medical Sciences (IMS) have discovered numerous age-related changes in the lipid metabolism of mice, across both organs and sexes. Among these changes was the selective accumulation, throughout the body, of certain lipids produced by gut bacteria as the mice aged. They also discovered a sex difference in the kidneys and a gene responsible for it.

Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can provide answers to families.

Differences in socioeconomic status (SES) are known to be linked to differences in the risk of developing disease. While people with lower SES are more likely to develop complex diseases such as diabetes and cardiovascular disease, those with a higher SES are at increased risk of developing certain types of cancer.

Polygenic risk scores (PRSs) are estimates of an individual's susceptibility to a specific complex trait obtained by aggregating the effects of dozens, thousands, and potentially millions of genetic variants associated with that specific trait into a single figure. Some private companies now market PRS embryo screening to prospective parents through the use of in vitro fertilization and pre-implan

Epigenetics, a term coined by Conrad H. Waddington in the early 1940s, originally described the complex molecular pathways that govern how a genotype manifests as a phenotype. Over time, this definition has evolved to focus on heritable changes in gene activity that occur without altering the DNA sequence itself.

Harmful variants in the BRCA1 gene greatly increase a person's lifetime risk of developing breast, ovarian and pancreatic cancers, but most people are unaware they are carriers.

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published in the May 31 online issue of Nature Medicine, was done in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; and the NIHR BioResource, curr

Adenomyosis is a poorly understood gynecological disorder with limited treatment options. A new study employed single-cell RNA sequencing and spatial transcriptomics to map transcriptional alterations across different regions of the uterus in adenomyosis patients and controls.

New research from the University of Lausanne reveals that both the excess and the deficiency of a single protein can lead to severe intellectual deficiencies. The discovery offers critical insights for early diagnosis of a rare developmental disorder.

Several teams of medical researchers are currently testing new therapies for slowing or stopping the excess or runaway bone growth associated with fibrodysplasia ossificans progressive (FOP)—a rare bone disease.

Researchers at Rice University have revealed a previously unknown function of opioid receptors in the development of the enteric nervous system (ENS), often referred to as the "brain in the gut." This discovery challenges conventional understanding of opioid receptors, shedding new light on their significance beyond pain management and addiction.

A team of researchers have generated the first complete chromosome sequences from non-human primates. Published in Nature, these sequences uncover remarkable variation between the Y chromosomes of different species, showing rapid evolution, in addition to revealing previously unstudied regions of great ape genomes. Since these primate species are the closest living relatives to humans, the new seq

Blood stem cells from healthy people carry major chromosomal alterations, suggesting we are all genetic mosaics, according to a new study from EMBL and the Max Delbrück Center.

Researchers at Karolinska Institutet have identified an interesting potential future therapeutic target in primary headache disorders. They have found increased amounts of a gene associated with cluster headache, MERTK, and its ligand Gal-3, in tissue from cluster headache patients. Their study is published in the Journal of Headache and Pain.

A team of researchers from the University of Toronto has identified a gene in fruit flies that regulates the types of connections between flies within their "social network."

Scientists have pinpointed genetic changes that can leave children born with little to no immune defense against infection.

In a scientific feat that broadens our knowledge of genetic changes that shape brain development or lead to psychiatric disorders, a team of researchers combined high-throughput experiments and machine learning to analyze more than 100,000 sequences in human brain cells—and identify over 150 variants that likely cause disease.

A new analysis has revealed detailed information about genetic variation in brain cells that could open new avenues for the targeted treatment of diseases such as schizophrenia and Alzheimer's disease.

A team led by researchers at UCLA and the University of Pennsylvania has produced a first-of-its kind catalog of gene-isoform variation in the developing human brain. This novel dataset provides crucial insights into the molecular basis of neurodevelopmental and psychiatric brain disorders and paves the way for targeted therapies.

Schizophrenia is a complex disease with variable presentations, and the diverse nature of this mental health disorder has made understanding the mechanisms that cause the disease, and subsequently developing effective treatments, especially challenging.

Lupus is a lifelong, often painful and occasionally lethal autoimmune disease. Few treatments exist today beyond powerful steroids to knock down a patient's immune system—a therapy that has its own serious risks.

Researchers have found that a newly developed modified sugar increases the efficacy and safety of antisense oligonucleotides designed to treat central nervous system disease.

Cardiovascular diseases, including stroke and coronary artery disease are among the leading causes of death worldwide. Classical risk factors include age, personal lifestyle, and pre-existing conditions, but genetic predisposition also plays a role.

Researchers have unveiled critical insights into how our genetic makeup influences the body's response to COVID-19 vaccines. The study, published in Nature Communications, may open new paths to personalized vaccination strategies.

A team of infectious and inflammatory disease specialists affiliated with several institutions in France reports that women are more susceptible to autoimmune diseases, such as lupus, due to failed X-chromosome inactivation.

New research led by King's College London has found that thousands of DNA sequences originating from ancient viral infections are expressed in the brain, with some contributing to susceptibility for psychiatric disorders such as schizophrenia, bipolar disorder, and depression.

Researchers from Children's Hospital of Philadelphia (CHOP), the Perelman School of Medicine at the University of Pennsylvania, and the National Cancer Institute (NCI) of the National Institutes of Health have developed a new tool that allows scientists to annotate variant data from large-scale studies with clinically-focused classifications for risk of childhood cancer and other diseases. This ne

You've watched others shed pounds in a matter of weeks after taking one of the new blockbuster weight-loss drugs, so you decide to try one of the medications yourself, only to discover the needle on your bathroom scale barely budges.

Scientists seeking to counter the neglect of African Americans in neuroscience research have found evidence that genetic ancestry is responsible for the increased prevalence of certain neurological disorders, such as Alzheimer's disease and stroke, and decreased prevalence of others, including Parkinson's disease, in Black Americans, according to new research published May 20 as the June cover sto

A joint team effort led by Dr. Haruhisa Inoue (Professor, Department of Cell Growth and Differentiation, CiRA) has established iPS cells from two patients with EYS-associated retinal dystrophies (EYS-RD) and converted them into retinal organoids to study the root cause of this debilitating visual disability. The study is published in JCI Insight.

Genetic mechanisms behind the brain's unique left–right differences are now better understood with new research, paving the way for better understanding of human disorders where brain asymmetry is disrupted.

Congenital heart disease (CHD) includes a variety of structural malformations affecting the heart and blood vessels. With growing understanding of the molecular processes involved in heart development, genetic variants have been proven to play a crucial role in the development of CHD.

In what they believe is a solution to a 30-year biological mystery, neuroscientists at Johns Hopkins Medicine say they have used genetically engineered mice to address how one mutation in the gene for the light-sensing protein rhodopsin results in congenital stationary night blindness.

A research group led by University of Tsukuba has discovered a mouse pedigree that presents spontaneous sudden cardiac death attributed to inherited ventricular arrhythmia. This was identified through electrocardiographic screening of a large-scale, randomly mutagenized mouse library.

In a recently published study, Prof. Itamar Harel from the Hebrew University of Jerusalem and team of researchers have discovered a novel connection between germline regulation and the intricate balance of longevity and somatic repair in vertebrates.

A study from North Carolina State University has found that environmentally caused alterations to specific areas of the genome—known as imprint control regions—during early development may contribute to the risk of developing Alzheimer's disease, and that Black people may be more affected than white people. The work adds to our understanding of the ways in which environmental factors can contribut

Researchers at Children's Hospital of Philadelphia have pioneered a new gene therapy model that offers a potential breakthrough in treating X-linked sideroblastic anemia (XLSA), a rare congenital anemia caused by mutations in the ALAS2 gene crucial for the synthesis of heme, a key compound in hemoglobin.

Exercise—it's associated with increased muscle strength, improved heart health, lower blood sugar and just about every other physical improvement you can name. But how does regularly puffing away on a treadmill, biking up a steep hill or going for a brisk lunchtime walk confer such a dizzying array of health benefits?

Children with neurodevelopmental disorders report congenital abnormalities, such as defects of the heart and/or urinary tract, at least ten times more frequently compared to other children.

Scientists have discovered 17 additional genes that drive the abnormal overgrowth of mutated blood cells as we age. The findings, published 14 May in Nature Genetics, provide a more complete view of the genetic factors behind clonal hematopoiesis—a process associated with aging and linked to increased risks of blood cancers.

Ribosomal DNA (rDNA) is present in hundreds of copies in the genome, but has not previously been part of genetic analyses. A new study of 500,000 individuals indicates that people who have more copies of rDNA are more likely to develop inflammation and diseases during their lifetimes.

Three out of four U.S. adults support the use of emerging technologies that estimate a future child's likelihood of developing health conditions influenced by multiple genes—such as diabetes, heart disease, and depression—before an embryo is implanted during in vitro fertilization (IVF), according to a new public opinion survey led by researchers at Harvard Medical School.

A team led by researchers at UT Southwestern Medical Center has developed deep learning models to identify a simple set of rules that govern the activity of promoters—regions of DNA that initiate the process by which genes produce proteins.

More than 20,000 volunteers have been recruited to a resource aimed at speeding up the development of much-needed dementia drugs. The cohort will enable scientists in universities and industry to involve healthy individuals who may be at increased risk of dementia in clinical trials to test whether new drugs can slow the decline in various brain functions including memory and delay the onset of de

A study led by researchers from Vanderbilt-Ingram Cancer Center sheds light on some of the genetic variants that make breast cancer more deadly for women of African ancestry and significantly reduces the disparity in knowledge for assessing their genomic risk factors.

Lyme disease is the most common disease transmitted by tick bites in Germany. Whether a particular genetic predisposition plays a role in the development of the disease and which immunological processes in the body are involved is not yet sufficiently understood.

A team of neurologists affiliated with multiple institutions in Spain and the U.S. has found evidence that suggests up to 20% of all cases of Alzheimer's disease (AD) may be attributable to double copies of the APOE4 gene.

Researchers at Brigham and Women's Hospital and Duke University showed that a genetic variant, present in 3-4% of self-identified Black individuals in the U.S., increases the risk for both heart failure and death and contributes to significant decreases in longevity at the population level

The organization of the human brain develops over time, following the coordinated expression of thousands of genes. Linking the development of healthy brain organization to genes involved in mental health conditions such as autism and schizophrenia could help to reveal the biological causes of these disorders.

Strep A (Group A Streptococcus) is a common type of bacteria that typically causes throat infections and scarlet fever. While most infections are mild, in rare cases Strep A can cause invasive infections that can be fatal.

Fred Hutch Cancer Center scientist Jennifer E. Adair, Ph.D., is on a mission to foster worldwide collaboration on potentially curative gene therapies.

A new research paper was published in Aging, titled, "The association between neighborhood deprivation and DNA methylation in an autopsy cohort."

A new study, led by Jesmond Dalli, professor of molecular pharmacology at Queen Mary University of London, has found that people with a genetic mutation that leads to a reduction in a protein called LGR6, found on the surface of immune cells, have a decreased ability to clear viral infections.

A group of researchers at the University of California San Diego School of Medicine have led an investigation that offers new insight into the causes of spina bifida, the most common structural disorder of the human nervous system.

Tiny, dangerous, and easily transmitted hepatitis B virus (HBV) chronically affects about 296 million people and kills about 1 million every year. This stealthy virus invades the liver and remains largely asymptomatic until it culminates in cirrhosis or cancer.

A gene previously linked to intellectual disability has been found to regulate learning and memory in mice. The gene, called KDM5B has previously been linked to some intellectual disability disorders and autism. In the general population, some variants are also associated with reduced brain function, although not sufficient to cause an overt disability or behavioral symptoms.

Neural tube defects (NTDs) rank as the second most prevalent congenital malformation in humans, impacting the central nervous system development in approximately 1 in every 1,000 live births. Over 300 genes, including the HSPG2 gene, are implicated in NTDs in mice.

First linked to mutations in the CHD7 gene in 2004, CHARGE syndrome is a rare genetic disorder occurring in approximately 1 in 8,500 to 15,000 births. According to the National Institute of Health (NIH), CHARGE syndrome is an acronym for coloboma of eyes (C), heart disease (H), atresia of the choanae (A), retarded growth and mental development (R), genital anomalies (G), and ear malformations and

A genetic link between height growth during puberty and long-term health in adulthood has been identified by a new study from the University of Surrey and the University of Pennsylvania published in Genome Biology.

In a study carried out by experts in child development at the University of York, researchers have found that pre-school children actively select, shape and create their own experiences to match their genetic tendencies.

A team of researchers from the University of Chicago, in collaboration with the Free University of Brussels and the University of Washington, have uncovered a genetic mutation in a non-coding region of DNA that alters the regulation of the thyroid, leading to a rare form of congenital thyroid abnormality.

Mutations in the MAGEL2 gene, which cause Schaaf-Yang syndrome (SYS)—an ultra-rare disease that affects neuronal and cognitive development—generate truncated, non-functional proteins that tend to accumulate in the cell nucleus. Moreover, this progressive accumulation of abnormal proteins could cause a toxic effect in patients affected by the syndrome, who suffer congenital malformations, intellect

Researchers at Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania have revealed a powerful new bone marrow atlas that will offer the public a first-of-its-kind visual passport into the spectrum of healthy and diseased blood production. The findings are published in the journal Cell.

Researchers from the UAB have identified a region in the early aggregates of the alpha-synuclein protein that can be targeted to prevent its conversion into the toxic amyloid fibrils that accumulate in the brains of people suffering from Parkinson's disease.

Researchers from the Research Area on Neurological Diseases, Neuroscience, and Mental Health at the Sant Pau Research Institute, led by Dr. Juan Fortea, Director of the Memory Unit of the Neurology Service at the same hospital, have found that over 95% of individuals over 65 years old who have two copies of the APOE4 gene—APOE4 homozygotes—show biological characteristics of Alzheimer's pathology i

The world's largest study of cerebral palsy (CP) genetics has discovered genetic defects are most likely responsible for more than a quarter of cases in Chinese children, rather than a lack of oxygen at birth as previously thought.

Behavioral similarities between parents and their offspring are less marked than is often suggested, a new study shows.

For most patients, it's unknown exactly what causes amyotrophic lateral sclerosis (ALS), a disease characterized by degeneration of motor neurons that impairs muscle control and eventually leads to death.

The length of telomeres in white blood cells, known as leukocytes, varies significantly among sub-Saharan African populations, researchers report in The American Journal of Human Genetics. Moreover, leukocyte telomere length (LTL) is negatively associated with malaria endemicity and only partly explained by genetic factors.

Genetics can be associated with one's behavior and health—from the willingness to take risks, and how long one stays in school, to chances of developing Alzheimer's disease and breast cancer. Although our fate is surely not written in our genes, corporations may still find genetic data valuable for risk assessment and business profits, according to a perspective published in The American Journal o

In an article published in Nature, researchers from Karolinska Institutet present an atlas of the early development of the brain. The atlas can be used, among other things, to find out what went wrong in the development of brain tumors in children and also to find new treatments.

Rett syndrome is a rare neurodevelopmental disorder for which there is currently no cure or good therapy. It causes severe physical and cognitive symptoms, including many that overlap with autism spectrum disorder.

Nonsense-mediated RNA decay, or NMD, is an evolutionarily conserved molecular mechanism in which potentially defective messenger RNAs, or mRNAs (genetic material that instructs the body on how to make proteins), are degraded. Disruption of the NMD pathway can lead to neurological disorders, immune diseases, cancers, and other pathologies. Mutations in human NMD regulators are seen in neurodevelopm

Researchers from Children's Hospital of Philadelphia (CHOP) have identified a causal genetic variant strongly associated with childhood obesity. The study provides new insight into the importance of the hypothalamus of the brain and its role in common childhood obesity, and the target gene may serve as a druggable target for future therapeutic interventions. The findings are published in the journ

Clonal hematopoiesis is a phenomenon caused by mutations in hematopoietic stem cells and can lead to blood cancer. We now know that it occurs also in people with normal blood counts, where it is associated with an increased risk of life-threatening atherosclerotic cardiovascular disease.

Proteins are the workhorses of life. Organisms use them as building blocks, receptors, processors, couriers and catalysts. A protein's structure is critical to its function. Malformed proteins not only fail to carry out their tasks, they can accumulate and eventually gum up the inner workings of cells. As a result, misfolded proteins cause a variety of degenerative diseases, from Alzheimer's and P

University at Buffalo researchers have found that the active form of a gene promotes a broad range of protective traits. The gene is found in 75% of the population and is known to protect against neurodegeneration. Now, UB researchers have found that this same gene enhances immune function, too.

New research from the University of Aberdeen could lead to the development of medication for disease that affects 1 in 4 people worldwide but is currently untreatable.

Researchers led by Queen Mary University of London have discovered over a hundred new regions of the human genome, also known as genomic loci, that appear to influence a person's blood pressure. In total, over 2,000 independent genetic signals for blood pressure are now reported, demonstrating that blood pressure is a highly complex trait influenced by thousands of different genetic variants.

National Institutes of Health researchers and collaborators have discovered over 100 new regions of the human genome, also known as genomic loci, that appear to influence a person's blood pressure. Results of the study also point to several specific genomic loci that may be relevant to iron metabolism and a type of cellular receptor known as adrenergic receptors.

A healthy lifestyle may offset the effects of life-shortening genes by more than 60%, suggests an analysis of the findings from several large long-term studies, published online in the journal BMJ Evidence-Based Medicine.

Imagine riding a bike. Now imagine riding a bike with an enormous beach ball stuck on your handlebars. That "modification" might change your experience quite a bit. In our cells, molecules called phosphate groups are constantly attaching to—or detaching from—proteins. These "post-translational modifications" alter how our proteins function.

The core experiences of depression—changes in energy, activity, thinking and mood—have been described for more than 10,000 years. The word "depression" has been used for about 350 years.

Researchers have discovered the mechanism which allows adult brain stem cells to express genes that maintain their identity and those for neuronal differentiation without conflicts in cellular activity. Furthermore, this mechanism enables stem cells to be prepared to respond to differentiation signals readily.

Some families call it a trial of faith. Others just call it a curse. The progressive neurological disease known as spinocerebellar ataxia 4 (SCA4) is a rare condition, but its effects on patients and their families can be severe. For most people, the first sign is difficulty walking and balancing, which gets worse as time progresses. The symptoms usually start in a person's forties or fifties but

A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder, and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, communication, eating, and vision.

A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique biomarkers that could identify patients with 22q who may be more likely to develop schizophrenia or psychiatric conditions, including psychosis, which is commonly associated with 22q. The research was published in

There has been a breakthrough in the research on the disease amyotrophic lateral sclerosis (ALS). Scientists at Umeå University report that the disease progression in a patient with a particularly aggressive form of ALS disease has slowed down considerably with the use of a new gene therapy. After four years on the medication, the patient can still climb stairs, rise from his chair, eat and speak

A new study highlights possible cardiovascular health advantages in individuals with a rare condition known as growth hormone receptor deficiency (GHRD), also called Laron syndrome.

A new paper by Dana-Farber Cancer Institute scientists lays the foundation for targeted therapies to inhibit the activation of nuclear factor kappa B (NF-κB), a transcription factor that plays a role in various autoimmune and inflammatory diseases and cancers.

In a landmark study, an international consortium led by researchers at Children's Hospital of Philadelphia (CHOP) published the final results of a key clinical trial of the gene therapy CASGEVY (exagamglogene autotemcel) for the treatment of sickle cell disease in patients 12 years and older with recurrent vaso-occlusive crises (VOCs).

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The team developed a machine learning system called AI-MARRVEL (AIM) to help prioritize potentially causative variants for Mendelian disorders. The study is published in NEJM AI.

The COVID-19 pandemic turned the world upside down. In fighting it, one of our most important weapons was genomic surveillance, based on whole genome sequencing, which collects all the genetic data of a given microorganism. This powerful technology tracked the spread and evolution of the virus, helping to guide public health responses and the development of vaccines and treatments.

A new UCLA Health study has found that certain genetic variants could help explain how long-term pesticide exposure could increase the risk of Parkinson's disease.

Survivors of childhood cancer are at increased risk for cardiovascular disease, for which a risk factor is their greater prevalence of type 2 diabetes, with a disproportionate impact on those of non-European heritage. St. Jude Children's Research Hospital scientists have identified four previously unknown genetic variants associated with diabetes risk in all survivors.

When pathogens invade the body, the immune system must react immediately to prevent or contain an infection. But how do our defense cells stay ready when no attacker is in sight?

A study, published in Nature Communications, sheds light on a newly identified subtype of muscular dystrophy, revealing an unsuspected role of SNUPN gene in muscle cell function.

Within the last century, researchers' understanding of genetics has undergone a profound transformation.

Dilated cardiomyopathy is the most frequent cause of heart failure in young people and is the leading cause of heart transplantation. In this disease, the heart enlarges and reduces its capacity to pump blood. People with dilated cardiomyopathy are at high risk for arrhythmias and sudden death.

Metachromatic leukodystrophy is a rare genetic disorder that mainly affects young children and results in severe neurological symptoms accompanied by a loss of motor and intellectual capacities. At Paris Brain Institute, Françoise Piguet and her colleagues have developed a gene therapy treatment capable of correcting the primary anomaly observed in the disease: the accumulation of sulfatides in th

Clarifying the cause of a skin disease had led to the discovery of a new disease-causing gene, a new category of diseases, and new perspectives for both counseling and therapy. The discovery is the first time that epigenetic silencing, the "switching off" of an otherwise intact gene, has been recognized as the cause for a skin disease.

DNA methylation data provide extremely accurate age predictors, but so far, little is known about the dynamics of this epigenomic biomarker over the course of life.

An international collaborative research team, including scientists from UQ's Queensland Brain Institute (QBI), has discovered a novel mechanism underlying memory involving rapid changes in a specific DNA structure.

Ciliopathies are rare diseases in which the formation or function of cilia, cylindrical-shaped extensions found on the surface of many cells, is altered. There is a high degree of ciliary specialization, ranging from motile cilia of the respiratory epithelium to primary cilia—necessary for neurodevelopment or the formation of many organs—and neurosensory cilia of the ear and the retina. Some prote

Epidemiology researchers are harnessing tools developed by the Johns Hopkins Applied Physics Laboratory (APL) in Laurel, Maryland, to untangle the origins of the 2020 Ebola virus disease outbreak in the Democratic Republic of Congo (DRC). An article in The Lancet Microbe explores how advanced tools developed by APL are revolutionizing infectious disease outbreak response and research.

Twin studies have proven invaluable for teasing out the effects of both genetics and the environment on human biology. In a study published April 2 in Cell Reports, researchers studied pairs of twins to look at how the interplay of genetics and environment affect cognitive processing—the way that people think. They found that some cognitive abilities appear to be regulated more by environmental fa

Two siblings who have the only known mutations in a key gene anywhere in the world have helped scientists gain new insights that could help progress the search for new treatments in type 1 diabetes.

A multi-institutional team of geneticists and genomic and genotyping specialists in Japan has sequenced the genomes of thousands of Japanese people from across the country, looking to settle the debate surrounding the ancestry of the Japanese people.

In post-traumatic stress disorder (PTSD), intrusive thoughts, changes in mood, and other symptoms after exposure to trauma can greatly impact a person's quality of life. About 6% of people who experience trauma develop the disorder, but scientists don't yet understand the neurobiology underlying PTSD.

Penn State researchers may have uncovered another layer of complexity in the mystery of how diet impacts aging. A new study led by researchers in the Penn State College of Health and Human Development examined how a person's telomeres—sections of genetic bases that function like protective caps at the ends of chromosomes—were affected by caloric restriction.

Heritability for autism spectrum disorder (ASD) varies for males and females, with higher heritability seen for males than females, according to a study published online April 17 in JAMA Psychiatry.

Determining how genetics contribute to common forms of strabismus has been a challenge for researchers. Small discoveries are considered meaningful progress.

Scientists have reached a milestone in the research of childhood asthma. For the first time, they have clarified how a certain genetic defect in children initially leads to frequent infections and later to asthma. The study, published in the American Journal of Respiratory and Critical Care Medicine, offers a novel approach to therapeutic interventions. It is the result of a close collaboration be

How muscle changes with aging and tries to fight its effects is now better understood at the cellular and molecular level with the first comprehensive atlas of aging muscles in humans.

A study conducted at the Faculty of Sport and Health Sciences at the University of Jyväskylä showed that a genetic predisposition for higher muscle strength predicts a longer lifespan and a lower risk for developing common diseases. This is the most comprehensive international study to date on hereditary muscle strength and its relationship to morbidity. The genome and health data of more than 340

Human papillomavirus (HPV) is the second most common cancer-causing virus, accounting for 690,000 cervical and other cancers each year worldwide. While the immune system usually clears HPV infections, those that persist can lead to cancer, and a new finding suggests that certain women may have a genetic susceptibility for persistent or frequent HPV infections.

Treatment for rheumatoid arthritis (RA) has come a long way in recent years. In many cases, a battery of medications can now successfully calm the inflammatory cells that cause swelling and pain when they infiltrate tissues around the joints.

Understanding how genetics affect health is an essential first step toward treating and preventing a host of diseases. New knowledge often comes from genome-wide association studies identifying variations in the genetic code linked with conditions such as cancer and autoimmune disease. The more people's DNA and health histories that are examined in such research, the more likely genetic and biolog

Columbia researchers have discovered a genetic variant that reduces the odds of developing Alzheimer's disease by up to 70% and may be protecting thousands of people in the United States from the disease. The study, "Rare genetic variation in Fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease," was published online in the journal Acta Neuropathologica.

Sex differences are widespread across human development, physiological processes, and diseases, making it important to characterize the impact of sex differences in these areas. Understanding the regulatory mechanisms associated with these differences, including the role of androgens, is also vital for clinical translation—especially for diseases more prevalent in one sex.

Autism spectrum disorder (ASD) encompasses neurodevelopmental conditions where patients display repetitive behavior and impaired sociality. Genetic factors have been shown to influence the development of ASD. Additionally, recent studies have shown that the genes involved in chromatin modification and gene transcription are involved in the pathogenesis of ASD.

Researchers in China and Italy have made a significant breakthrough in understanding Dubin-Johnson syndrome (DJS), a rare inherited liver disorder. The team identified specific genetic mutations responsible for DJS in a pair of dizygotic twins, offering valuable insights into the cause of the disease and potentially improving diagnosis for patients with unclear symptoms.

Researchers at Baylor College of Medicine have tested the feasibility of using human cell transdifferentiation with RNA sequencing to facilitate diagnoses of Mendelian disorders. The approach generated an overall diagnostic yield of 25.4% in a cohort of Undiagnosed Diseases Network cases. The findings are published in The American Journal of Human Genetics.

Genetic studies of diseases map segments of the genome driving disease. But to understand how those changes contribute to disease progression, it is important to understand how they may alter gene regulation of disease genes in cell populations assumed to be driving disease.

Investigators at Weill Cornell Medicine have assembled the most comprehensive atlas to date of messenger RNA (mRNA) variants in the mouse and human brain. The atlas is an important new resource in understanding brain development, neuron specialization and other brain functions.

The development of the cerebral cortex largely depends on the stem cells responsible for generating neurons, known as radial glial cells. Until now, it was believed that these stem cells generated neurons following a simple process, that is, a single cell lineage.

A mutation in a protein regulating natural killer (NK) cells' function is at the root of immune deficiency in some people with a rare genetic condition characterized by cognitive and developmental delay, seizures, and other manifestations, new UCLA-led research suggests.

In a study published in the journal Science China Life Sciences, a research team used nearly 5,000 metagenomic samples collected from 60 cities around the world to conduct in-depth research on the antibiotic resistance of urban environmental microbes, providing a more comprehensive landscape of resistome in the global urban environment.

Regular aerobic exercise later in life prevents genomic instability characterized by DNA damage and telomere dysfunction, according to a study from the Department of Internal Medicine at the University of Utah. Researchers will present their work this week at the American Physiology Summit, the flagship annual meeting of the American Physiological Society (APS), in Long Beach, California.

Researchers have been chipping away at the genetic causes of congenital heart disease (CHD) for a couple of decades. About 45% of cases of CHD have an identifiable cause, including chromosomal abnormalities, genetic variants affecting protein-coding genes, and environmental factors. What about the rest of the cases of CHD?

Northwestern Medicine investigators have developed a method to measure protein expression in an individual neuron, a discovery that will enable scientists to study how this process goes awry in disease, according to a study published in Molecular Psychiatry.

A research team led by the University of California, Irvine has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington's disease and multiple cancers.

A research group centered at the University of California San Diego School of Medicine has drilled deep into a dataset of over 3 million individuals compiled by the direct-to-consumer genetics company 23andMe, Inc., and found intriguing connections between genetic factors influencing alcohol consumption and their relationship with other disorders.

In the largest study of its kind, researchers from the Translational Genomics Research Institute (TGen), part of City of Hope, have identified genes that appear to drive the progression of metabolic dysfunction-associated steatotic liver disease (MASLD) and metabolic dysfunction-associated steatohepatitis (MASH).

Researchers have shown that dangerous cysts, which form over time in polycystic kidney disease (PKD), can be prevented by a single normal copy of a defective gene. This means the potential exists that scientists could one day tailor a gene therapy to treat the disease. They also discovered that a type of drug, known as a glycoside, can sidestep the effects of the defective gene in PKD. The discove

Patients who have had surgery to create a Fontan circulation show changes in their genetic code, which may provide a new treatment opportunity to reduce premature aging.

Argininosuccinate lyase deficiency (ASLD), also known as argininosuccinic aciduria, is a severe metabolic disease where the body does not process proteins normally, instead resulting in a very dangerous accumulation of argininosuccinic acid and ammonia. Excess ammonia causes disturbances of consciousness, coma and even death.

An archway of blue and white balloons adorned the entrance of an otherwise unremarkable office building in San Jose this week, marking the grand opening of a new high-tech laboratory for Kaiser Permanente Northern California, which serves 4.5 million people in the region.

Clinicians often find limited success in treating patients with traumatic brain injury, a condition long linked to contact sports and military services. A new study, published in the journal Cell Stem Cell, may offer new clues to better solutions.