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 ...

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 ...

Self-teaching AI uses pathology images to find similar cases, diagnose rare diseases

New model acts as search engine for large databases of pathology images

14-Oct-2022 - Rare diseases are often difficult to diagnose and predicting the best course of treatment can be challenging for clinicians. Investigators from the Mahmood Lab at Brigham and Women’s Hospital, a founding member of the Mass General Brigham healthcare system, have developed a deep learning ...

The body as a network

A new VR platform enables the display of huge amounts of data. This can be helpful in the study of rare genetic defects, among other things

27-Apr-2021 - Networks offer a powerful way to visualize and analyze complex systems. However, depending on the size and complexity of the network, many visualizations are limited. Protein interactions in the human body constitute such a complex system that can hardly be visualized. Jörg Menche, Adjunct ...

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 ...

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 - ...

Decoding Lil BUB: Crowdfunded project reveals genome of internet celebrity cat

06-Mar-2019 - Lil BUB has drawn millions of followers across the internet for her cute appearance. Behind the celebrity cat’s unique features is a combination of two rare genetic variants, three molecular biologists from Germany and the US report. The results of their crowdfunded project “LilBUBome” are now ...

New biomarker links cancer progression to genome instability

High level of specific protein in tumors indicates prognosis

14-Jan-2019 - Our DNA is under constant attack. The delicate molecule that contains our genetic information is extremely vulnerable to everything from environmental agents, such as radiation, to the chemicals in the air we breathe and the food we eat. Genome instability can lead to genetic disorders, chronic ...

Immune cells may heal bleeding brain after strokes

22-Sep-2017 - While immune cells called neutrophils are known to act as infantry in the body's war on germs, a National Institutes of Health-funded study suggests they can act as medics as well. By studying rodents, researchers showed that instead of attacking germs, some neutrophils may help heal the brain ...

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 ...