Neuronal developmental disorders: Genetic variants in small non-coding RNAs discovered as a cause

26-May-2025 - Neuronal developmental disorders affect millions of people worldwide. Genetic causes are known for many of these disorders, but for around half of them they are still completely unclear. An international research team led by Prof. Dr. Christel Depienne from the Institute of Human Genetics at the ...

Antisense RNA for the treatment of severe epilepsy in premature infants

28-Apr-2025 - A child is born prematurely at the LMU Hospital and suffers from epileptic seizures almost continuously. The girl has an ultra-rare disease: an early and severe epilepsy with a so-called sodium channel mutation, an "SCN2A-associated developmental and epileptic encephalopathy" (SCN2A-DEE). All ...

Unlocking the genetic basis of adaptive evolution

Study reveals complex chromosomal rearrangements in a stick insect

23-Apr-2025 - Understanding the material basis of adaptive evolution has been a central goal in biology dating back to at least the time of Darwin. One focus of current debates is whether adaptive evolution relies on many mutations with small and roughly equal effects, or is it driven by one or a few mutations ...

Extreme Mutation Hotspot in Bacteria Discovered: Study Links High Mutation Rates to Transcriptional Activation

Groundbreaking research identifies a 5000-fold increase in mutation rates in the promoter of a bacterial gene

17-Mar-2025 - A new study published in PLOS Genetics has identified an extreme mutational hotspot within the genome of Pseudomonas fluorescens, providing unprecedented insight into the relationship between gene regulation and mutation rates. The findings could have broad implications for understanding ...

Faster response to new virus variants

Researchers developed a method to quickly and reliably identify mutations responsible for immune escape

04-Feb-2025 - Viruses are masters at disguise. When they are pushed too far by our immune system, they send new virus variants into play that are no longer recognized by immune cells. They escape our immune system by mutating the virus structures that are recognized by antibodies. In order to adapt vaccines to ...

Cancer research: Small change with a big impact

How p53 works

10-Dec-2024 - A research team at the University of Konstanz, led by toxicologist Ivano Amelio, has demonstrated how differently individual mutations of the tumour suppressor p53 affect pancreatic carcinomas. When cell growth gets out of control and malignant cells begin to proliferate, cancer can develop in a ...

Water-shy proteins weaken protection against cancer

Special mutations in important protective proteins lead to the proteins being broken down longer and therefore faster

31-Oct-2024 - Cancer researchers at the Faculty of Medicine at the University of Freiburg have discovered that certain "non-stop mutations" make important protective proteins against cancer in the body longer, making them "water-shy". The proteins then become more unstable in the aqueous environment of the ...

Understanding How Mutations Affect Diseases

Novel Framework to Study Polygenic Diseases

30-Oct-2024 - The human genetic code is fully mapped out, providing scientists with a blueprint of the DNA to identify genomic regions and their variations responsible for diseases. Traditional statistical tools effectively pinpoint these genetic “needles in the haystack,” yet they face challenges in ...

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 ...