Hope for patients with a severe rare disease

By combining the results of multiple molecular analyses, scientists can better diagnose the hereditary disease methylmalonaciduria

30-Jan-2023 - New research offers potential benefits for those affected by the hereditary metabolic disease methylmalonic aciduria. By combining the results of multiple molecular analyses, scientists can better diagnose this rare and severe disease. In the future, an improved understanding of the disease might ...

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. ...

New Insights into Kidney Disease with Tropical Frog Models

AI analyzes data from light-sheet microscopy

09-Nov-2021 - Using cutting-edge genetic engineering, UZH researchers have developed a model to study hereditary kidney disease with the help of tropical frogs. The method allows them to collect large amounts of data on anomalies, which can then be analyzed using artificial intelligence. The research opens up ...

New software detects disease-causing gene mutations

Software finds "needle in a haystack" e.g. in the diagnosis of rare diseases

10-Sep-2020 - A serious illness is often the result of a single genetic defect. But given that two healthy people already have around three million differences in their genetic make-up, it is no easy task to pick out the one disease-causing deviation from the many harmless gene variants. Scientists at the ...

Breaks in the genome

New method to improve the diagnosis of genetic diseases

28-Jul-2020 - Breaks and rearrangements in the genome can lead to severe diseases, even if all genes remain intact. Hi-C, a method to map the three-dimensional structure of chromosomes, promises more reliable and accurate diagnoses of such defects, but is not used in the clinic yet. A team of researchers at ...

Gene scissors against incurable muscular disease

New gene correction therapy

30-Jan-2020 - Duchenne type muscular dystrophy (DMD) is the most common hereditary muscular disease among children. A Munich based team has developed a gene therapy that may provide permanent relief for those suffering from DMD. LMU researcher Eckhard Wolf was involved in the study. Muscles need dystrophin in ...

How Artificial Intelligence Detects Rare Diseases

11-Jun-2019 - Every year, around half a million children worldwide are born with a rare hereditary disease. Obtaining a definitive diagnosis can be difficult and time consuming. In a study of 679 patients with 105 different rare diseases, scientists from the University of Bonn and the Charité - ...

Quality assurance in cells power plants

14-Dec-2017 - Mitochondria generate most of the energy cells need through a respiratory chain for which they must produce their own proteins. The research group of Associate Professor Henna Tyynismaa, University of Helsinki, Finland, has discovered a "quality control" mechanism in the mitochondria, which is ...

Detour diagnosis

Rare genetic disorders: new approach uses RNA in search for genetic triggers

14-Jun-2017 - In about half of all patients with rare hereditary disorders, it is still unclear what exact position of the genome is responsible for their condition. One reason for this is the enormous quantity of information encoded in human genes. Scientists from the fields of informatics and medicine have ...

Catching CRISPR in action

13-Jan-2017 - One of the most talked about biological breakthroughs in the past decade was the discovery of the genome editing tool CRISPR/Cas9, which can alter DNA and potentially remove the root causes of many hereditary diseases. Originally found as part of the immune system of the Streptococcus pyogenes ...