September 25, 2024 by German Cancer Research Center Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, particularly in the case of genetic variants that only rarely occur in the population, the influence on the presentation of certain pathological traits has so far been...
Tag: <span>Genetic variants</span>
Post
Research shows genetic variants are more common in people with Parkinson’s disease than previously thought
July 29, 2024 by Parkinson’s Foundation Credit: Unsplash/CC0 Public DomainInvestigators in the Parkinson’s Foundation-backed PD GENEration study—which reached its goal of 15,000 participants ahead of schedule this spring—found that 13% of participants have a genetic form of Parkinson’s disease (PD), which is a significant observation compared to long-standing estimates. Results from the first 3.5 years...
Post
APOE genetic variants linked to Alzheimer’s disease also associated with the development of subclinical atherosclerosis
by Centro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.) Individuals who carry the APOE4 gene variant have an elevated riskof developing subclinical atherosclerosis in middle age, whereas carriers of the variant APOE2 are protected. Credit: CNICScientists at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) in Madrid have found that one of the most potent genetic...
Post
187 new genetic variants linked to prostate cancer found in largest, most diverse study of its kind
by Keck School of Medicine of USC Credit: CC0 Public Domain A globe-spanning scientific team has compiled the most comprehensive list of genetic variants associated with prostate cancer risk—451 in all—through a whole-genome analysis that ranks as the largest and most diverse investigation into prostate cancer genetics yet. The research, led by the USC Center for...
Post
Researchers use ‘deep sequencing’ to identify previously undescribed genetic variants in vascular anomalies
by Children’s Hospital of Philadelphia Credit: Pixabay/CC0 Public Domain Researchers from Children’s Hospital of Philadelphia (CHOP) recently discovered that extremely thorough “deep sequencing” of the genome in tissue samples and cell-free DNA of patients with potentially life-threatening vascular anomalies captured several genetic variants related to disease that were not captured with conventional genetic sequencing methods. More than...
Post
Scientists identify genetic variants linked to mobility changes in aging
by eLife A microscopic image of C. elegans roundworms used in a study to identify genetic variations that contribute to a build-up of oxidative stress, a process that can cause cell damage, in muscle tissue. Scientists screened the roundworms and found that variations in a gene called ALH-6 were associated with oxidative stress. Over time,...
Post
Small group of genetic variants found in extremely ill COVID patients may explain differences in how sick people get
by Medical College of Georgia at Augusta University Dr. Ravindra Kolhe. Credit: Michael Holahan, Augusta University The search to better understand the tremendous range of responses to infection with the COVID-19 virus—from symptom free to critically ill—has uncovered in some of the sickest patients a handful of rare structural gene variants involved in body processes,...
Post
Most ‘pathogenic’ genetic variants have a low risk of causing disease
by The Mount Sinai Hospital Researchers at the Icahn School of Medicine at Mount Sinai found that most disease-causing mutations have a low risk of actually causing disease. Credit: Do lab, Mount Sinai, N.Y., N.Y. Imagine getting a positive result on a genetic test. The doctor tells you that you have a “pathogenic genetic variant,”...
Post
New scientific resource will help uncover the genetic underpinnings of type 2 diabetes
by Massachusetts General Hospital Credit: Unsplash/CC0 Public Domain Many variants in the human genome have been linked to type 2 diabetes, but because most do not lie within genes that code for proteins, it’s unclear how they might cause disease. Now an international team, including investigators at Massachusetts General Hospital (MGH), has developed a resource to...
Post
Researchers identify genetic variants that impact immune cells’ functioning
by Wellcome Trust Sanger Institute Fig. 1: Properties PU.1 transcription factor QTLs. From: Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease. Credit: Nature Communications (2021). DOI: 10.1038/s41467-021-22548-8 Researchers have combined genome-wide sequencing and functional profiling of immune cells to understand more about the impact of genetic variants on disease. Certain genetic variants...
- 1
- 2