Over 500 patients receive diagnosis through genetic reanalysis
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Updates every hour. Last Updated: 16-May-2025 19:09 ET (16-May-2025 23:09 GMT/UTC)
European consortium for Solving the Unsolved Rare Diseases demonstrates the significance of international collaboration to address the unmet medical needs on rare diseases’ diagnosis
More than 500 European patients with unknown conditions have received a diagnosis through new genetic research. This includes patients with rare neurological disorders, severe intellectual disabilities, muscle diseases, and hereditary gastrointestinal cancer. These diagnoses were achieved through extensive European collaboration, led by researchers from the University of Tübingen, Radboud university medical center, and the National Center for Genomic Analysis in Barcelona.
Scientists from A*STAR Genome Institute of Singapore (A*STAR GIS) have uncovered that a key enzyme – P4HA1 prolyl hydroxylase, is strongly induced in CD8+ T cells in solid cancer, the primary immune cells involved in combating cancer. P4HA1 causes disruptions in energy production within the cells, which leads to weaker immune cells that are less able to fight cancer and form long-lasting anti-cancer immunity, highlighting P4HA1 as a promising target for treating solid tumours.
Male adolescents and young adults with cancer have a slightly elevated risk of having preterm birth and children with low birth weight, but no increased risk of birth defects in their offspring, according to research by UTHealth Houston. The population-based study was recently published in the Journal of the National Cancer Institute.
This paper to be published in Science reveals a surprising new role for immune cells in regulating blood sugar.
Key Findings: Immune cells migrate from the intestine to the pancreas during periods of low energy, like intermittent fasting or exercise.
This migration triggers glucagon release, helping to stabilise blood sugar levels.
These results uncover a remarkable, previously unknown “three-way conversation” between the nervous, immune, and hormonal systems.
Why it matters:
Shows that the immune system not only fights infections but also actively maintains metabolic balance, enabling the body to handle fasting and intense exercise more efficiently.
Opens doors to new therapies targeting diabetes, obesity, and even cancer, since some cancers hijack metabolic pathways—including glucagon—to fuel their growth.
Because of You: The Campaign for University Hospitals has received more than $1.5 billion in community support towards its ambitious $2 billion goal. Because of You aims to make a significant and enduring impact in five key areas: caring for children, transforming cancer care, leading discovery and innovation, investing in our community, and embracing emerging priorities.