Articles tagged with Genetic Screening
The American Heart Association scientific statement highlights the importance of pre-test and post-test counseling for families with children undergoing CVD genetic testing. The statement emphasizes the need for a multidisciplinary approach to address family concerns and provide appropriate follow-up care.
The article considers the ethical issues surrounding enrolling children with neurodevelopmental conditions, such as autism spectrum disorder and fragile X syndrome, in clinical trials. Parents may face difficult decisions about whether to enroll their children due to concerns about potential loss of positive aspects of their condition.
A recent UNSW study found that women who received their polygenic risk score (PRS) for breast cancer experienced minimal regret and reduced distress compared to those who declined. The researchers also discovered that more women reported regret about not knowing their PRS score, highlighting the importance of providing clear informatio...
Researchers found two new TLR7 gene variants in young, healthy men with severe Covid-19, highlighting the importance of genetic screenings for early intervention. These variants were associated with impaired immune response and increased risk of serious illness, emphasizing the need for preventive vaccination strategies.
A national study found that only half of children with cardiomyopathy have undergone genetic screening, despite critical benefits for treatment and potentially curing the disease. Genetic screening can provide lifesaving information to families and prioritize children for a lifesaving cardiac transplant.
A new computational tool called mixscape has been developed to help understand the function and regulation of human genes. Mixscape identified a molecular mechanism for regulating immune checkpoint proteins that govern the immune system's ability to identify and destroy cancer cells.
Researchers at Newcastle University are studying the role of genes in congenital heart defects to better understand their formation and development. By examining the pharyngeal endoderm tissue from mice, they hope to identify key genes involved in forming large blood vessels and prevent potential defects.
Researchers developed a new technique, CRISPR-LICHT, allowing for the analysis of hundreds of genes in human tissue using cerebral organoids. The method identified a specific mechanism controlling brain size and pinpointed microcephaly genes, shedding light on a genetic disorder.
A new tissue screening assay for human cerebral organoids identified 25 additional candidate genes for microcephaly, nearly doubling the number of currently known genes linked to the rare neurological condition. The CRISPR-LICHT technology revealed these genes associated with both known and previously unknown microcephaly-driving pathw...
Researchers identified a new pathway that protects cells from Ebola virus and coronaviruses like SARS-CoV-2, by blocking viral entry into the cell. The MHC class II transactivator (CIITA) gene induces resistance to Ebola virus through the activation of CD74 p41, which disrupts viral protein processing and prevents infection.
A new study shows that community-based genetic screening can identify individuals at increased risk for three common inherited conditions, including Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia. The study found that up to 90% of carriers were not previously identified in a clinical setting.
A new study published in PLOS Medicine shows that genetic pre-screening can reduce the number of screening tests needed to identify individuals at risk for osteoporotic fractures by up to 41 percent. This could lead to cost savings and more efficient screening programs.
A new genetic risk score identified more men at increased risk for abdominal aortic aneurysm and could benefit from screening to detect it prior to rupture. The study suggests that current screening recommendations should be extended to include testing for those with high polygenic risk scores.
Katelynn Sagaser received the 2020 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her research on hypophosphatasia, a previously unrecognized disease. The award recognizes genetic counselors' vital contribution to patient care and highlights their role in thorough interpretation of genetic testing results.
Researchers used a genetic screen to identify genes essential for neuron survival, including those involved in cellular metabolism. The study also uncovered new targets for treating Huntington's disease, such as the Nme gene family.
A study found that selecting embryos based on traits like height or IQ using current knowledge of gene variants may not be effective in increasing the desired traits. The simulations used real-world data to confirm predictions about traits were not always accurate, and limitations such as variability and ethnicity make it challenging.
Researchers developed a computational model, Combined Essentiality Scoring (CES), to accurately identify essential genes in cancer cells. The model predicts cancer essential genes with higher accuracy than existing methods and suggests two predicted genes as potential drug targets for breast cancer and leukemia.
Researchers found that direct-to-consumer genetic tests can result in clinical false-negative results, particularly for certain populations. For example, 40% of individuals with MUTYH mutations would have been missed, while 19% of Ashkenazi Jewish individuals with BRCA1/2 mutations would also be missed.
Researchers have discovered a new genetic defect that causes intellectual disability, affecting around 3% of the global population. The newly identified gene target will help improve screening programmes and aid in accurate diagnoses worldwide.
A large-scale screen of mouse mutants revealed 38 new genes involved in hearing loss, including those related to metabolic pathways and regulatory processes. These findings provide a rich source of therapeutic targets for the restoration of hearing.
Researchers used CRISPR/Cas9 to selectively shut off a gene for female development, finding that diet has no effect on gonad size when the gene is turned off. This suggests that a specific genetic program must be switched on to permit nutrient level to affect gonad size.
A Rutgers University study has discovered that fruit fly wings remain the same shape even when cells are manipulated to change their division pattern, revealing a new way organs form. This breakthrough could lead to improved diagnosis and treatment of genetic diseases like mitral valve prolapse and van Maldergem syndrome.
A team led by Kiran Musunuru used a stem-cell-based assay to determine the impact of a TNNT2 gene variant on a patient's health. The test successfully identified the variant as benign, allowing the patient and her family to avoid unnecessary genetic screening.
Researchers at UT Southwestern Medical Center used CRISPR genome-wide screening to identify the IFI6 gene as a potent antiviral gene targeting flaviviruses, including West Nile and Zika viruses. The study found that cells with a working IFI6 gene inhibited infection by these viruses in cell culture studies.
Research reveals that routine screening and genetic testing can identify up to 30% of relatives with an underlying genetic predisposition to developing life-threatening aortic diseases. This could lead to earlier detection and potentially save lives.
Scientists at Stanford University School of Medicine have identified a molecular code that unleashes necroptosis, a violent form of cell death. The discovery opens the door to potential new treatments for diseases such as inflammatory bowel disease and multiple sclerosis.
A recent clinical study found that most parents-to-be want access to information from preconception carrier screening, including genetic variants associated with common disorders. However, the interpretation of these variants remains a significant challenge due to limited knowledge about their effects on health.
A study found that most people, including those without a prior connection to the condition, support newborn screening for spinal muscular atrophy. Key benefits cited include better healthcare and life expectancy for affected infants, as well as informed decision-making for future pregnancies.
Researchers at MIT developed a new way to screen for genes that protect against specific diseases by adapting the CRISPR genome-editing system. The new technology identified genes that protect yeast cells from a protein associated with Parkinson's disease, which may also provide protective effects in human neurons.
Researchers have discovered a new mobile colistin resistance gene, mcr-3, in Escherichia coli of pig origin, which may already be widely disseminated. The prevalence of mcr-3 is likely underestimated due to potential transfer between bacterial species.
A new study from the University of Utah School of Medicine shows that brain cells often activate one copy of a gene over the other's, breaking basic genetic principles. This finding suggests new ways in which genetic mutations might cause brain disorders, including mental illness and intellectual disability.
Two mouse mutants, Sleepy and Dreamless, have been identified with excessive and reduced rapid eye movement (REM) sleep, respectively. The mutations have been linked to specific genes, offering a new perspective on the regulation of sleep and wakefulness.
Researchers have identified a gene associated with age-related hearing loss in mice, which could lead to investigations into the equivalent human gene and potential screening programs to predict susceptibility. This discovery may ultimately inform treatment development or timing of interventions.
A study of nearly 350,000 adults found that expanded carrier screening increased detection of carrier status for potentially serious genetic conditions compared to current recommendations. Expanded testing identified more fetuses at risk than guideline-based screening, which was based on self-reported racial/ethnic background.
A new breath test has been developed to identify lung cancer after surgery, using a simple, affordable process that analyzes carbonyl volatile organic compounds in exhaled breath. The test shows great potential for detecting lung cancer at any point, both as primary screening and post-surgery monitoring.
Researchers evaluated an IHC screening tool for ROS1 gene rearrangements in a cohort of 170 patients. The results showed high sensitivity and specificity rates, making it a feasible option for first-line screening in a lung cancer setting.
Researchers identified a gene, neuromedin U (Nmu), that regulates sleep in zebrafish. Overexpression of Nmu causes severe insomnia, while its absence leads to reduced activity during the day. The study improves understanding of sleep regulation and suggests Nmu as a potential candidate for new therapies to address sleep disorders.
New research shows HPV infection screening alone is more accurate than Pap testing for detecting cervical cancer. The study suggests that HPV primary screening can be used as an alternative to current methods, with recommended 3-year intervals for testing.
Researchers at MIT have successfully turned on any desired gene in living cells using the CRISPR/Cas9 system. This breakthrough enables scientists to study gene function and identify genes involved in diseases, such as melanoma. The new method has also been used to screen for genes that confer resistance to cancer drugs.
A Mayo Clinic-led study found that nearly 15% of triple-negative breast cancer patients have deleterious mutations in predisposition genes, including BRCA1 and BRCA2. This suggests a different origin for the disease compared to other forms of breast cancer.
Researchers from Aarhus University developed a comprehensive overview of gene interactions in muscles, providing insights into the effects of exercise on metabolism. The study's results, published in Scientific Data, offer a platform for future research into diseases like diabetes and obesity.
Researchers found a potential early detection window for pancreatic cancer in people with a family history of the disease. The study suggests that identifying susceptibility genes and designing risk management programs can help detect the disease earlier, improving outcomes.
A new study using next-generation DNA sequencing shows that it can accurately screen embryos for genetic disease prior to implantation, improving outcomes in IVF treatments. The technique has been shown to be effective, reliable and cost-efficient, resulting in more ongoing pregnancies.
Researchers have developed a comprehensive library of guide RNAs that can be used to identify the role of every gene in different cell types. This library was created using CRISPR technology and found that 50 out of 52 guide RNAs successfully cut both copies of specific genes, leading to a thorough understanding of how resistance occurs.
Researchers at the University of Otago and Plant & Food Research have identified the genetic mechanism controlling onion bulb formation in response to changing daylight hours. This discovery will help breed new onion cultivars that can thrive in different environments, increasing crop yields and export revenue.
Researchers at UNC will sequence the genome of 400 infants to determine useful clinical data from genomic tests. The study aims to build a model for informed choices about newborn testing, including educational tools and parental consent protocols.
Researchers found that reducing ataxin-1 protein levels by 20% can significantly delay onset of spinocerebellar ataxia 1 (SCA1) symptoms. A molecular pathway modulated to reduce toxic protein levels may provide a therapeutic approach for this devastating inherited condition.
A recent study published in Cell Reports reveals how certain genes control the ratio of proteins p21 and PUMA, which determines whether tumors adapt or die when faced with p53-activating drugs. The researchers found a handful of genes that fine-tune this balance.
A genome-wide lethality screen using RNA interference technology identified 239 gene candidates essential for cell survival. The researchers developed a high-stringency analysis method to determine which genes result in cell death when knocked down.
A large study found that ABO blood type is a strong risk factor for venous blood clots. The research, published in the Canadian Medical Association Journal, also identified other genetic mutations associated with an increased risk of these conditions.
A genetic screening approach has identified nine new genes associated with bone health, providing clues to the cause of bone disorders such as osteoporosis. The study used a collaborative effort between specialist skills in mouse gene deletion and bone measurement, assessing the strength of bones in 100 mutant mouse lines.
Researchers at Yale University have discovered a new gene mutation that provides hope for new screening methods to identify women at risk of developing endometriosis. The study found that 31% of women with endometriosis carried the mutation, compared to 5.8% of the general population.
Researchers at George Washington University have identified 18 novel genetic markers for autism spectrum disorders, highlighting four distinct subtypes and ten associated variants. These findings provide potential genetic biomarkers for diagnostic screening and advance the understanding of autism's genetic contributions.
A new study couples a complex genetic screening technique in humans with functional validation of results in flies to study human disease. The strategy has the potential to be an effective approach for understanding complex disorders, such as Alzheimer's disease.
Researchers developed a comprehensive genetic test that can screen all 54 known deafness-causing genes in one run, costing $2,000. The new OtoSCOPE test offers quicker answers for families anxious to determine treatment options or learn the likelihood of future children having hearing loss.
Researchers have identified a genetic cause of inherited conditions causing severe fetal abnormalities, potentially leading to treatments for related disorders. The study found that the faulty gene stops cells' 'antennae' from transmitting information.
Researchers identified three genes involved in regulating bone repair rate, explaining why Paget's disease occurs. The discovery could lead to a screening test for early detection and preventative treatment.
A recent study has found that embryo biopsy does not increase the risk of major malformations or health problems in babies born from singleton pregnancies after preimplantation genetic diagnosis and screening. However, multiple pregnancies associated with PGD/PGS showed higher perinatal death rates compared to ICSI children.
A new study by University of Pennsylvania researchers found that common biological processes like insulin metabolism influence the body's daily clock, reversing previous assumptions about one-way communication. The findings suggest potential new treatments for metabolic disorders tied to circadian cycles.
Fruit flies resembling insomniac humans have been created to study the causes of insomnia. The flies exhibit similar behavioral patterns to humans with insomnia, including increased sensitivity to stimuli and difficulty falling asleep. Researchers believe this model can help develop new treatments for insomnia.