Anorectal malformations and Hirschsprung's disease
Anorectal malformations (ARM) and Hirschsprung's disease (HD) are congenital colorectal conditions, meaning individuals are born with them, although their causes are not necessarily genetic. Their
New deadline for sending your research proposal based on patient-reported data
In response to inquiries and requests from those interested in this year's projects' selection, Share4Rare extends the deadline to August 31, 2025. Types of projects Studies will be conducted on a
New study on Share4Rare: Barefoot-style shoes for children with Epidermolysis bullosa simplex
Epidermolysis bullosa (EB) is a group of rare genetic disorders characterised by extreme skin fragility and mucous membranes, leading to blisters and wounds. It is present from birth and currently has
Gene therapy improves vision of four children with retinal dystrophy caused by mutations in the AIPL1 gene
A recent study published in The Lancet has shown promising results following the use of a new gene therapy to treat Leber congenital amaurosis in two boys and two girls, aged 1 to 3 years, with
Selection of research projects based on patient-reported data 2025
Under the new Share4Rare service portfolio and to encourage research on rare diseases, we are now accepting proposals to implement research projects on the platform. This process is open to patient
Biobanks: Research allies. A new episode of Rare Horizons.
One of the greatest challenges in rare disease research is the limited availability of biological samples. We all know that studies based on small sample sizes often yield less conclusive results than
The role of patient organisations in implementing newborn screening for rare diseases
A recent article published in the Rare Disease and Orphan Drugs Journal highlights the critical role of patient organisations in promoting newborn screening for rare diseases. The goal of these tests
