European Human Genetics Conference 2027
The 60th European Human Genetics Conference of the European Society of Human Genetics, held June 12-15, 2027 in Rotterdam, The Netherlands as a hybrid conference with in-person and virtual participation.
Bioinformatics Developer
EMBL-EBI seeks a Bioinformatics Developer for DECIPHER, a platform supporting rare-disease research and clinical interpretation of genetic variation. The developer will evaluate and integrate genomic and phenotype resources, deploy analysis tools, design database structures and interfaces, investigate data problems and work with clinical and research collaborators. The role is based in Hinxton with hybrid working and may be full time or 80% time. The advert gives a closing date of 8 October 2026 at 23:59 CET.
Expanding the role of MAST kinases in brain development and epilepsy: identification of de novo pathogenic variants in MAST4
Improving care for rare disease patients in Europe - Rare Disease Day 2021
Lysosomal storage disorders and their unanticipated links to rare and common diseases
Lysosomal storage diseases are a group of over 70 inherited metabolic disorders, many of which have a neurodegenerative clinical course. Treatments have been developed for a subset of these disorders and are now in routine clinical use. We have found that some neurological and neurodegenerative diseases share unanticipated links to lysosomal storage diseases providing insights into disease pathogenesis. These links also suggest treatments developed for lysosomal disorders may have unanticipated utility in other rare and common diseases.