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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

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

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

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

Un equipo investigador del Centro de Regulación Genómica (CRG) en Barcelona y del BGI en Shenzhen (China) ha publicado recientemente un trabajo en la revista Nature en el que emplean la técnica "

The discovery of this new group of rare diseases, associated with brain malformations, intellectual disability, and seizures, was made possible by a unique medical case. A child in Germany had gone

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

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

In a recent article published in Human Genetics, a research team identified genetic variants (mutations) in the MAP3K20 gene that cause malformations in the hands and feet, hearing loss, and

Pitt-Hopkins syndrome is a rare genetic disorder caused by mutations in the TCF4 gene, which plays a key role in the normal development of the nervous system. Children with this condition often

According to the U.S. National Institutes of Health, 20% of the adult population suffers from chronic pain, and currently, there are no effective treatments to address it. This type of pain is closely

Thanks to recent advances in genomic sequencing, we have found out that 5-15% of children are genetically predisposed to developing a tumour. However, until now, it was not clear when to start