Publications by authors named "J Baets"
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFBackground: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been associated with both hypertrophic and dilated cardiomyopathy and, more recently, with skeletal myopathy.
Methods: Genetic, clinical, and muscle imaging data were collected from 37 patients with an autosomal dominant ACTN2 myopathy belonging to 11 families from Spain and Belgium.
Article Synopsis
- Neurogenetic disorders linked to mutations in spectrin genes lead to a wide range of symptoms, from peripheral nervous system issues to complex syndromes, emphasizing their diverse impact.
- An international study identified 14 families with unexplained distal weakness due to heterozygous loss-of-function variants, collecting standardized clinical and imaging data to analyze the condition further.
- The research found that all 20 patients exhibited early childhood onset of distal weakness with varying severity, along with associated foot abnormalities and muscle changes, confirming the link between these genetic variants and a new syndrome characterized by primarily myogenic effects.
Article Synopsis
- Human genetics research has made a lot of progress in finding out what causes diseases over the last ten years, thanks to sharing data and working together.
- The GENESIS platform helps scientists who may not know a lot about bioinformatics to analyze genetics data and discover new disease genes.
- With over 20,000 datasets from rare disease patients, GENESIS has contributed to discovering more than 100 new genes and helped solve many cases for patients with rare diseases.
Background: Engineering bacteria with the purpose of optimizing the production of interesting molecules often leads to a decrease in growth due to metabolic burden or toxicity. By delaying the production in time, these negative effects on the growth can be avoided in a process called a two-stage fermentation.
Main Text: During this two-stage fermentation process, the production stage is only activated once sufficient cell mass is obtained.