Rapid genome analysis of a Whippet sighthound sets new standard for biodiversity research

“We are demonstrating that we can obtain and analyse complete genome information in a matter of days – not months”

24-Oct-2024 - The continuing global loss of biodiversity is making it increasingly necessary to rapidly collect and analyse genetic information on endangered species. In a joint project, the Department of Human Genetics at Bioscientia Institute for Medical Diagnostics GmbH in Ingelheim am Rhein and the LOEWE ...

Drug discovery within the patient

Genetic analysis of bacteria from humans and animals paves the way for new active ingredients

21-Oct-2024 - Microorganisms do not just colonize the body of mammals during infections. Billions of microbes can be found on and in healthy humans and animals at any given time, communicating with each other via chemical signals and thus influencing their health. In two studies, researchers from the Helmholtz ...

Scientists from 33 European countries join forces to generate reference genomes for the continent's rich biological diversity

19-Sep-2024 - The European Reference Genome Atlas (ERGA) pilot project reports its success in uniting scientists from across Europe to produce high-quality reference genomes for 98 species. This marks a significant milestone in the quest to create a high-quality reference genome database for all European ...

How to live 400 years

Genome of the longest-lived vertebrate decoded: It is huge and has special repair capabilities

12-Sep-2024 - The Greenland Shark (Somniosus microcephalus), an elusive dweller of the depths of the northern Atlantic and the Arctic Ocean, is the world’s longest-living vertebrate, with an estimated lifespan of about 400 years. An international team of scientists has mapped the Greenland Shark’s genome for ...

Blueprint for blueberry improvement: genetic and epigenetic discoveries

13-Aug-2024 - Recent research has uncovered significant genetic and epigenetic variations in blueberry cultivars, particularly between northern highbush (NHB) and southern highbush (SHB) blueberries. The study highlights gene introgression's role in SHB's adaptation to subtropical climates and identifies key ...

Rare genetic diseases can sometimes be recognized by the face

Large multicenter study identifies 34 new genetic diseases

23-Jul-2024 - The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic diagnosis. ES is an examination of all sections of our genetic material (DNA) that code for ...

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 ...

Rare gene variants identified that play a role in hereditary male hair loss

Researchers find puzzle pieces for hair loss

27-Sep-2023 - Previous research into male pattern hair loss, also termed androgenetic alopecia, has implicated multiple common genetic variants. Human geneticists from the University Hospital of Bonn (UKB) and by the Transdisciplinary Research Unit "Life & Health" of the University of Bonn have now performed a ...

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 ...

Novel way to identify still unknown pathogens

Evolutionary trade-offs: Balancing genetic disease risks and pathogen protection

02-Feb-2023 - Certain genes can exist in different, functionally divergent variants in the individuals of a species. If they lead to clear differences, for example in a phenotype or susceptibility to disease, this is known in biology as a polymorphism. Typical examples are a number of genes whose variants are ...