Articles tagged with Heredity
Researchers have created a comprehensive map of the DNA sequences that control gene expression in human cells, identifying 2.37 million potential regulatory elements. This registry reveals previously unrecognized classes of elements and illuminates how noncoding genetic variation contributes to cell type-specific traits.
Research from Radboud University Medical Center and colleagues demonstrates the value of targeted tumor analysis of DNA in colorectal polyps. This study provides valuable insights into genetic predispositions, including APC mutational mosaicism and BRAF gene mutations.
Flinders University researchers discovered a biological process that could explain some stillbirths and pave the way for early detection. The study found that molecules called circular RNAs build up in the placenta too quickly during pregnancy, compromising its ability to nourish the baby.
Researchers have identified a cellular mechanism that transmits mitochondrial DNA mutations, which can cause serious and incurable diseases. A potential treatment is proposed to target the enzyme USP30, reducing the risk of mitochondrial disease transmission.
Genomic imprinting discovered by Davor Solter and Azim Surani reveals maternal chromosomes contribute essential information missing in paternal chromosomes. This phenomenon, coined genomic imprinting, involves tiny methyl groups attached to DNA's four bases regulating fetal growth and development.
A new study found that kids of obese parents are more likely to have obesity due to inheriting related genes. The study suggests that a mother's BMI may be particularly important in determining a child's weight, both through direct genetic inheritance and indirect nurture effects.
A study published in Neurobiology of Disease found that melanin degradation is impaired in genetically engineered mice lacking the SLC26A4 gene, leading to chronic inflammation and macrophage activation. The researchers propose a novel pathological cascade where melanin accumulation exacerbates hearing loss in pigmented individuals.
Researchers at UC San Francisco have identified potential protein markers for frontotemporal dementia (FTD), a form of dementia affecting middle age. The study found changes in RNA regulation and brain connections that could lead to early diagnosis and targeted treatments.
A study found that genetic predisposition to higher muscle strength is associated with lower all-cause and cardiovascular mortality in aging men. The association remained significant even after adjusting for lifestyle factors such as smoking and body mass index.
A national study in Australia aims to understand the genetic cause of rare diseases, improving diagnoses and treatment options for those affected. The study is recruiting Australians with a known or suspected rare genetic disease to gather information and connect them with future research opportunities.
A clinical study confirms that early treatment with fosdenopterin/rcPMP significantly reduces the risk of early death and promotes healthy brain development in infants with MoCD type A. The therapy restores the missing molybdenum cofactor, leading to improved developmental milestones.
Researchers have identified a potential new gene target, FLT1, that could be edited to treat sickle cell disease by increasing fetal hemoglobin levels. The study found 14 new genetic markers associated with fetal hemoglobin production, which could help preserve the type of hemoglobin present at birth.
Scientists at Johns Hopkins Medicine discovered how bacteria protect themselves from certain phage invaders by seizing genetic material from weakened, dormant phages and forming a biological 'memory' that their offspring inherit. This process allows the bacteria to recognize and fight off similar viruses in the future.
A new study in the Circulation Journal reveals that babies born with heart defects may be at a higher risk of developing childhood cancer. Mothers of infants with congenital heart defects also show an increased cancer risk. The study highlights the importance of maternal factors and genetic traits in understanding this connection.
A new study highlights the need for more diversity in genomics research, as a commonly found gene variant was mistakenly linked to heart disease in people from Oceanian communities. The researchers found that the variant is actually common among healthy individuals from these regions.
Researchers discovered that mismatch repair genes are critical in eliciting damages to neurons vulnerable to Huntington's disease, triggering downstream pathologies and motor impairment. Targeting these genes may offer novel therapeutic approaches, including improving locomotor and gait deficits and reducing neuronal cell death.
A study of men with a family history of prostate cancer discovered an inherited form of prostate cancer linked to the mutated gene WNT9B. This gene variant increases prostate cancer risk by two- to 12-fold, comparable to breast cancer risk conferred by pathogenic mutations.
The new NCCN Guidelines for Patients: Genetic Testing for Hereditary Breast, Ovarian, Pancreatic, and Prostate Cancer provide evidence-based recommendations for assessing and testing for inherited genetic mutations. The resource aims to inform individuals about their cancer risks based on personal or family history.
A new study led by UCL researchers reveals that people at risk of hereditary dementia significantly impact their choices about having children and parenting. Genetic risk is viewed in the context of other factors, with concerns including practical and emotional challenges of caring for someone with familial frontotemporal dementia.
A new study suggests that cesarean sections performed during labor are associated with an increased risk of recurrent preterm birth and mid-trimester loss in subsequent pregnancies. Cervical damage may be the underlying mechanism for these findings, highlighting a growing clinical concern.
Researchers identified genes that impact tooth development and variation among ethnic groups. They found associations with tooth dimensions on genes inherited from Neanderthals and other genetic variants.
A study from Tulane University found that a low-protein diet in one generation can lead to lower birthweights and smaller kidneys in offspring across multiple generations. The findings suggest that food scarcity or malnutrition may result in decades of adverse health outcomes.
The WHO's Technical Advisory Group on Genomics published an article outlining challenges and actions to promote the use of genomics in public health. The group aims to increase awareness and provide technical guidance to accelerate access to genetic technologies, enabling preventive measures and targeted treatment for various diseases.
A study reveals racial disparities in genetic detection rates for inherited retinal diseases, with lower rates observed in Black patients compared to white patients. The findings highlight the need for improved genetic testing and therapeutic development to address these disparities.
The CRISPR tool was successfully used to correct a genetic defect in cells affected by chronic granulomatous disease. However, the repair process also introduced new genetic defects, highlighting the need for caution when using CRISPR technology in clinical settings.
Researchers found that female mouse models of Rett syndrome have a mosaic-like distribution of cells expressing wild-type and mutant MeCP2 protein, leading to dysregulated genes. The study also discovered an unusual disease progression, with females having more dysregulated genes at the pre-symptomatic stage than later on.
A new method using shared segments within the genome has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms and sudden cardiac death. The approach was developed by researchers at Vanderbilt University Medical Center and applied to a DNA biobank to detect carriers of rare disease-ca...
A recent study by the Wellcome Sanger Institute and GeneDx analyzed nearly 30,000 families with developmental disorders, revealing that known genes explain over 80% of cases caused by recessive genetic variants. The team identified several new genes associated with these conditions, providing answers for previously undiagnosed families...
Researchers identified over 3,000 harmful genetic changes in the RAD51C gene that increase ovarian cancer risk six-fold and breast cancer risk four-fold. These findings can help doctors and diagnostic laboratory scientists better assess cancer risk and provide more personalized care.
Researchers at Karolinska Institutet successfully used gene therapy to improve vision in 11 out of 12 patients with Bothnia dystrophy, a form of hereditary blindness. The treatment involved injecting a specially designed virus under the retina, which produced normal protein and restored visual function.
A comprehensive review of genetic and population studies challenges conventional wisdom about the relationship between genetic risk and cognitive deficits in schizophrenia. Premorbid cognitive impairment is largely explained by non-familial factors rather than inherited genetic variants.
Researchers used genetic method Mendelian randomization to show high levels of fasting insulin cause reduction in Lp(a), rather than the other way around. Low Lp(a) is unlikely to be a risk factor for type 2 diabetes, independent of pre-existing hyperinsulinaemia and insulin resistance.
Researchers found that brief, temporary changes to bacterial gene regulation imprint lasting changes within the network that are passed on to offspring. This discovery challenges long-held assumptions of how simple organisms transmit and inherit physical traits.
Research suggests that exposure to type 1 diabetes in the womb confers long-term protection against the condition in children with affected mothers, but not fathers. The study found a relative risk of 1.8 for children diagnosed with T1D if their father has the condition compared to those with affected mothers.
A new genetic test has identified a mutation causing progressive retinal atrophy (PRA) in English Shepherd Dogs, allowing breeders to eliminate the disease from their population. The test is available for purchase and will help prevent the disease from being passed on to puppies.
Researchers at UW Medicine have developed a new gene therapy that delivers protein packets to replace defective genes in muscles, halting disease progression and reversing pathology. The therapy uses adeno-associated viral vectors and aims to restore normal muscle health, with human trials expected to begin in two years.
Scientists are conducting a clinical trial to explore the use of anti-retroviral medications Ritonavir and Lopinavir as a potential treatment for brain tumors in patients with Neurofibromatosis 2. The study aims to determine if these drugs can help reduce tumor growth and survival in NF2 patients.
A retrospective study of 202 participants found that only 83 presymptomatic carriers underwent predictive testing, highlighting limitations in current genetic testing methods. The researchers advocate for a comprehensive clinical approach combining genetic counseling, predictive testing, and monitoring, as well as psychosocial support.
Research finds that Huntington’s disease damages microscopic blood vessels in the brain, affecting coordination between neuronal activity and oxygenation. The study uses non-invasive measurement techniques to monitor disease progression and evaluate potential treatments.
Researchers at Clemson University discovered that certain Neanderthal-derived genetic variations are more common in people with autism than in the general population. These findings suggest long-term effects of ancient human hybridization on brain organization and function, potentially leading to earlier diagnostics.
A KAUST team developed a simple approach to tackle CRISPR's deletion issue by targeting error-prone DNA repair pathways. By modulating specific genes, they reduced large deletions while enhancing homology-directed repair efficiency.
A pioneering CRISPR gene editing trial has demonstrated significant improvement in vision for 79% of participants with inherited retinal degeneration. The study's findings support further research into the potential of CRISPR-based treatments for inherited blindness.
A new Spanish study provides the first stratification of the risk of developing dilated cardiomyopathy among symptom-free genetic carriers. Researchers found that nearly 11% of genetic carriers developed the disease within a median follow-up period of 37 months.
A large-scale study found that individuals with a genetic predisposition for higher muscle strength have a slightly lower risk for common noncommunicable diseases and premature mortality. This is attributed to their intrinsic ability to resist pathological changes during aging, rather than recovery from acute adversity.
Researchers have discovered a direct link between the C122Y mutation in the Kir2.1 potassium channel and life-threatening arrhythmias in Andersen-Tawil syndrome, which affects fewer than 1 in a million people. The study highlights the importance of understanding the molecular mechanisms underlying cardiac arrhythmias.
Researchers at the University of Alabama at Birmingham discovered that the ALG6 variant is associated with altered phenotypes in patients with RP59, including delayed peripheral rod degeneration and diminished macular cone photoreceptor health. This study highlights the complex effects of modifier genes in human genetic disease.
A study has identified 1,289 genetic markers associated with Type 2 diabetes, including 145 newly discovered markers. The research provides risk scores for diabetes complications and suggests potential genetic targets for new treatments.
Researchers discovered a mutation in the APOA4 gene causing chronic kidney disease by analyzing DNA from affected families. The mutation leads to unstable and aggregated APOA4 protein depositing in the kidney, resulting in progressive kidney disease.
A new study finds that a hormone produced by the fetus and a mother's sensitivity to it are the causes behind nausea and vomiting during pregnancy. Lowering GDF15 levels or pre-exposing women to the hormone may mitigate symptoms, providing potential ways to prevent extreme forms of pregnancy sickness.
Researchers discuss a new approach integrating genomic, epigenomic, transcriptomic, and machine learning methods to identify functional genetic variants and characterize their mode of action in regulating target genes. This method aims to improve understanding of disease etiology and prioritize causative inherited genetic variants.
A large-scale effort has been conducted to understand the co-occurrence of mosaic chromosomal alterations (mCAs) among individuals of diverse ancestries. Researchers detected mCAs using existing DNA sequencing data and found associations between mCAs and increased cancer risk.
A new study identifies Magel2, a novel imprinted gene, as crucial for regulating nesting behavior and parental care in mice. The study found that mice lacking active Magel2 are inattentive parents with poor nests.
A study by Washington State University researchers found epigenetic alterations associated with elk treponeme-associated hoof disease, suggesting a systemic impact. The findings also suggest that the disease may be heritable, raising concerns about its transmission and susceptibility.
Researchers have identified new genetic markers to detect Lynch syndrome-associated colorectal cancer with 92% accuracy. The discovery could lead to a non-invasive screening option using stool samples, reducing the need for annual colonoscopies and invasive tests.
A new study has shed light on the origins of St Helena's 'liberated' Africans, who were brought to the island between 1840 and 1867. The research reveals that they most likely originated from areas between northern Angola and Gabon in West Central Africa.
Research from the University of Gothenburg reveals that both innate factors and environmental influences contribute to an individual's attitude towards nature. The study suggests that a wide range of factors shape how people express their love for nature, and emphasizes the importance of considering these variations in urban planning.
Researchers from Sanford Burnham Prebys have identified new genes that contribute to hypoplastic left heart syndrome (HLHS), a rare and life-threatening heart disease. The findings, published in eLife, bring scientists one step closer to unraveling the biology of this complex disease.
Fetuses use a copy of a gene inherited from their dad to force their mum to release as much nutrients possible during pregnancy. This 'remote-control' system is operated by genes that can be switched on or off depending on whether they are a 'dad's' or 'mum's' gene.
A new AI tool, MAFDA, tracks individual fruit flies' complex behaviors and compares them with their genetic backgrounds. This enables researchers to study behavior genetics and gain insights into inherited traits.
Researchers at Tel Aviv University have developed an innovative gene therapy that shows promise in treating Dravet syndrome, a severe developmental epilepsy affecting children. The treatment was found to be effective in improving epilepsy, protecting against early death, and enhancing cognitive abilities.