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Published on November 13, 2023
Genetic screening can identify patients with familial hypercholesterolemia (FH) to ensure they receive appropriate treatment to prevent heart attack, stroke, and death, according to a new study from Intermountain Health. Researchers found that compared to patients without a prior FH diagnosis, those diagnosed before a major heart event had significantly…
Published on May 2, 2023
Research led by Monash University in Australia and carried out in the Netherlands suggests a nationwide screening program to search for children with familial hypercholesterolemia could be cost effective. Inherited high cholesterol, known as familial hypercholesterolemia or FH, affects approximately one in every 300 people around the world. The severity…
Published on October 11, 2022
Research from the Family Heart Foundation suggests that early diagnosis is important for children with homozygous familial hypercholesterolemia (HoFH) and that better health checks could allow more cases to be identified at an early stage. HoFH is a severe type of inherited familial hypercholesterolemia where individuals with the condition have…
Published on July 19, 2021
Findings from a recent study by University of Pennsylvania and Invitae researchers suggests limited variant screening for familial hypercholesterolemia, as provided in available direct to consumer (DTC) tests, could lead to many people with this condition remaining undiagnosed. The authors argue in their JAMA Cardiology article that more comprehensive testing…
Published on February 2, 2024
Even people with moderately elevated low-density lipoprotein cholesterol (LDL-C) have higher risk of heart disease if they also had a variant for familial hypercholesterolemia (FH), according to new research. The long-term study included over 20,000 patients and reinforces the value of genetic testing for this condition. The study was published…
Published on May 18, 2022
A new study suggests that introducing more widespread screening for familial hypercholesterolemia (FH) could identify more than one million adults with the condition who are at increased risk for heart disease. FH is a relatively common genetic condition impacting 1 in 250 people in the U.S. that results in abnormally…
Published on May 5, 2020
Nearly 1% of the population carry certain pathogenic variants that put them at high risk of cancer or cardiovascular disease (CVD), according to a new study led by investigators at Massachusetts General Hospital (MGH). The study also showed that individuals at markedly increased risk could not be reliably identified based…
Published on April 11, 2019
A Stanford University-led team of scientists has developed a machine learning tool that can analyse electronic healthcare records (EHR) to identify individuals who are likely to have familial hypercholesterolemia (FH), an underdiagnosed genetic cause of elevated low-density lipoprotein (LDL) cholesterol, which puts patients at a 20-fold increased risk of coronary…
Published on May 7, 2024
Verve Therapeutics, a biotech based in Cambridge, MA, has progressed its second base edited gene therapy, aimed at significantly lowering low-density lipoprotein (LDL) cholesterol, to the clinic in a Phase I trial. The company is using base editing, a more precise gene editing technique than CRISPR-Cas9, to create novel therapies…
Published on February 14, 2024
A study of people with homozygous familial hypercholesterolemia, a rare inherited condition causing high cholesterol, shows men seem to be at higher risk of cardiac events such as heart attack as a result of their condition than women with the same disease. The research, published in JAMA Cardiology, showed that…
Published on October 18, 2023
Daniel Judge, MDDirector of the Cardiovascular Genetics Program and Fellowship Director for Cardiovascular DiseaseThe Medical University of South Carolina (MUSC) When Daniel Judge, MD, director of the Cardiovascular Genetics program and fellowship director for cardiovascular disease at The Medical University of South Carolina (MUSC), moved over…
Published on July 10, 2023
An analysis of more than 460 million lipid test results from 17 countries on five continents has provided evidence that variation in cardiovascular disease risk is based on influences from where a person lives and their sex. The study, performed by researchers at Johns Hopkins University and the Quest Diagnostics-led…
Published on June 27, 2023
St. Luke’s University Health Network and population health company Helix announced they will partner in a population genomics research program that seeks to enroll 100,000 St. Luke’s patients in Pennsylvania and New Jersey over the next four years. The program will provide genetic testing services to the patients as a…
Published on May 9, 2023
Results from a study led by Vanderbilt University show genomic screening for two hereditary cancers and familial hypercholesterolemia in adults under 40 years could be cost-effective. The U.S. Centers for Disease Control and Prevention lists hereditary breast and ovarian cancer syndrome; Lynch syndrome, the most common cause of inherited colorectal…
Published on April 11, 2023
More than 20 years ago, the announcement of the completion of the first human genome was heralded, often breathlessly, as the dawn of a new age of medicine. But how far have we actually come in using an individual’s unique molecular make up to provide individually tailored care based on…