Researchers improve diagnosis of rare disease

Several Swiss research institutes have joined forces as part of a major interdisciplinary project to carry out innovative research into the severe rare disease methylmalonic aciduria (MMA). In this study, the research consortium was able to accurately and correctly diagnose 84 percent of the cases investigated, further details of which can be found in a press release issued by the Swiss Federal Institute of Technology in Zurich (ETH). Previously, only around a third to half of all cases were correctly diagnosed.

One in 90,000 newborn babies is affected by the incurable disease, which results in serious consequences, namely that an enzyme in the energy metabolism is defective. Children and young people are often dependent on wheelchairs and do not always reach adulthood.

As one of the world’s leading centers for the diagnosis and treatment of MMA, the University Children's Hospital Zurich receives tissue samples from all over the world. This facilitated access to 210 of these biopsies as part of this study. According to the information, they were examined for the first time using what is known as a multi-omics approach. To this end, the researchers not only considered the genetic cause, but also its consequences at an RNA, protein and protein function level. In another project by the name of SwissPedHealth, the team now intends to further increase the validity of the diagnosis and extend the multi-omics approach to other genetic diseases.

This work was initiated and financed by the Initiative Personalized Health and Related Technologies (PHRT) of the ETH Domain. The University Children's Hospital Zurich, ETH Zurich and the Swiss Federal Institute of Technology Lausanne (EPFL) were also involved, in addition to the University of Zurich (UZH) and the Genome Center of the Geneva-based Health 2030, an initiative rooted in Western Switzerland. The molecular analysis was carried out at the Swiss Multi-Omics Center of PHRT. mm