Harnessing Mutations: A Breakthrough in Fruit Fly Genetics

A game-changing technique, TF-High-Evolutionary (TF-HighEvo), allows large-scale assessment of de-novo mutations in multicellular organisms

16-Sep-2024 - Developed in collaboration with researchers from the European Molecular Biology Laboratory (EMBL) and the Friedrich Miescher Laboratory of the Max Planck Society and published in Molecular Biology and Evolution, this technique provides fresh insights into the evolutionary dynamics of gene ...

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 analysis of cancer mutations may improve therapy

"A single test tells us something about the cellular mechanisms involved in cancer formation"

27-Jan-2023 - Combining single-cell data with a self-learning algorithm reveals how structural changes in chromosomes can trigger cancer. This new method could pave the way for personalized cancer treatments, writes a team led by Ashley Sanders in “Nature Biotechnology”. Cancer has many faces – no wonder, ...

The architecture of shattered genomes

Hunting for disease clues in the dark matter of our DNA

20-Jan-2023 - Scientists have reconstructed the chromosomes of patients with an extremely high number of aberrations in their genome that could alter the expression of nearby genes and potentially cause disease. Their results were published in Nature Communications in October 2022. “We are only beginning to ...

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 ...

Searching the sewers for viruses

"In the future, additional tools will be integrated into the pipeline that will even enable us to predict the effects of a newly discovered mutation"

14-Oct-2022 - Algorithms developed at the Max Delbrück Center are able to quickly detect new SARS-CoV-2 variants in wastewater. But that’s not all: the tool, which Altuna Akalin and his colleagues have now presented in “Science of the Total Environment”, can also find other pathogens. SARS-CoV-2 is one of many ...

Moss repair team also works in humans

"If we could correct faulty sites in the genetic code with RNA editing methods, this would potentially also offer starting points for the treatment of hereditary diseases"

21-Sep-2022 - If everything is to run smoothly in living cells, the genetic information must be correct. But unfortunately, errors in the DNA accumulate over time due to mutations. Land plants have developed a peculiar correction mode: they do not directly improve the errors in the genome, but rather ...

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. ...