When is genome sequencing advisable?

Human geneticists conduct clinical reference study for the diagnosis of genetic diseases

10-Jun-2024 - Scientists from the Broad Institute of MIT and Harvard, Harvard Medical School, and the University of Leipzig Medical Center (UKL) have shown in two independent patient cohorts when a genome sequencing is beneficial in the diagnosis of genetic diseases. The jointly published study provides ...

Genomic Stability: A Double-Edged Sword for Sharks

Sharks have long been said to have an exceptionally low cancer rate

25-Oct-2023 - Sharks have existed for millions of years, rarely develop cancer, and react sensitively to ecological changes. An international study led by Würzburg scientists shows that one explanation lies in the fish's genes. Sharks have been populating the oceans for about 400 to 500 million years. While ...

New tool facilitates clinical interpretation of genetic information

25-Apr-2023 - Max Planck and Harvard research teams develop DeMAG, a new method shared as an open-source web server (demag.org) to help interpret mutations in disease genes and improve clinical decision-making. Despite the increasing use of genomic sequencing in clinical practice, interpreting rare genetic ...

AI improves colorectal cancer screening in Lynch syndrome

Increase adenoma detection rate

04-Jan-2023 - First study of AI-assisted colonoscopy for colorectal cancer surveillance in patients with genetic predisposition - People with Lynch syndrome have a higher hereditary risk of colon cancer. Despite regular endoscopic surveillance, it remains elevated in those affected. Researchers at the National ...

Genetic Testing Before Pregnancy Detects up to Half of the Risk

Are would-be parents carrying a genetic risk of serious illnesses that they could potentially pass on to their children?

01-Sep-2022 - In the USA, doctors recommend that couples have genetic screening before trying to conceive. Researchers at the University of Zurich have now shown that a maximal variant of this test detects the risk in 44 percent of couples who are related by blood, and in just 5 percent of other couples. ...

Artificial intelligence tools predict DNA’s regulatory role and 3D structure

Sequence modeling algorithms could eventually lead to new ways to fight diseases caused by genetic mutations

10-Aug-2022 - Newly developed artificial intelligence (AI) programs accurately predicted the role of DNA’s regulatory elements and three-dimensional (3D) structure based solely on its raw sequence, according to two recent studies inNature Genetics.These tools could eventually shed new light on how genetic ...

Crystal study may resolve DNA mystery

Rice lab captures unseen details of replication, clues to how mutations can happen

12-May-2022 - When cells reproduce, the internal mechanisms that copy DNA get it right nearly every time. Rice University bioscientists have uncovered a tiny detail that helps understand how the process could go wrong. Their study of enzymes revealed the presence of a central metal ion critical toDNA ...

Cross-species cancer comparison uncovers new drug targets

Drug targets for a form of melanoma from genetic mutations found in humans, dogs and horses

13-Feb-2019 - New drug targets for a rare form of melanoma may result from the discovery of similar genetic mutations found in humans, dogs and horses under a first-ever tri-species DNA sequencing study involving a University of Guelph researcher. Melanoma is a cancer that most commonly occurs in the skin in ...

Closing in on mystery surrounding dangerous blood syndromes

Genetically driven MDS enabled by gene linked to metabolism and oxygen in cells

24-Aug-2018 - Scientists may be on the road to solving the mystery of a group of mostly incurable blood diseases called myelodysplastic syndromes (MDS), which cause people to have immature, malfunctioning bone marrow cells that fuel a diverse set of health problems and can lead to leukemia. MDS is linked to a ...

Mapping a genetic risk

08-Mar-2018 - The more information you have, the better able you are to predict what will happen next. Clinicians and health researchers often look at gene mutation to predict whether a fetus is at risk for a birth defect, or a person is at risk of developing a disease, but these predictions are not always ...