Latest Rares diseases biotechnology articles and news on biotech industry leaders, emerging biotech companies in Spain

A lipid metabolism enzyme is revealed as a new way to raise levels of the key protein in spinal muscular atrophy

by IRB Lleida. Institut de Recerca Biomèdica

9 months ago
Spinal muscular atrophy (SMA), SMN1, SMN2, SMN protein, acid sphingomyelinase (ASM)

It has been identified a biological target for combating spinal muscular atrophy: acid sphingomyelinase (ASM), an enzyme involved in the metabolism of lipids in the nervous system. Blocking its activi...

A study led by SJD identifies new therapeutic targets for Ewing sarcomade Ewing

by Hospital Sant Joan de Déu

9 months ago
KDM6A and KDM6B, Ewing Sarcoma

An international team led by the Institut de Recerca Sant Joan de Déu (IRSJD), the Pediatric Cancer Center Barcelona of the SJD Barcelona Children’s Hospital, and the Centre for Genomic Regulation ...

CIC bioGUNE contributes to a study that uncovers key genetic information for the development of mRNA-based therapies

by CIC bioGUNE

8 months ago
mRNA-based therapies, SpliSER

An international study, published in Nature Communications, has revealed a ‘hidden code’ that explains how genetic mutations alter RNA maturation. This advance opens the door to the development of...

Palobiofarma announce several important milestones dealing with the clinical development of PBF-999 for Prader-Willi Syndrome

by Palobiofarma

8 months ago
PBF-999, Prader-Willi Syndrome, PDE10 inhibitor

Palobiofarma S.L., una empresa biofarmacéutica dedicada al descubrimiento y desarrollo de fármacos innovadores para enfermedades huérfanas, ha anunciado hoy el logro de varios hitos importantes en ...

The use of artificial intelligence improves the diagnosis of a rare neuromuscular disease

by Hospital Sant Joan de Déu

8 months ago
Congenital muscular dystrophy, artificial intelligence (AI), collagen VI

It has been demonstrated how artificial intelligence (AI) can contribute to more efficiently diagnosing collagen VI-related congenital muscular dystrophy (COL6-CMD), a rare early-onset disease.

New immune biomarkers could help predict the requirement for ICU admission in children developing systemic inflammatory syndrome after COVID-19

by IrsiCaixa

8 months ago
multisystem inflammatory syndrome (MIS-C)

MIS-C is a rare syndrome that can appear weeks after COVID-19 in children and trigger widespread inflammation; identifying which cases may become more severe could be key to improving clinical managem...

Descubierta una nueva enfermedad genética del neurodesarrollo

by Hospital Universitari de Bellvitge

8 months ago
gen RPS6KC1, síndrome de Coffin-Lowry, proteínas RSK

Un equipo de investigación del IDIBELL, con participación de profesionales del Hospital de Bellvitge, identifica mutaciones en el gen RPS6KC1, clave en el metabolismo de lípidos y proteínas, como ...

The FDA approves a treatment co-created at Vall d’Hebron for a rare muscle disease

by Vall d’Hebron

8 months ago
thymidine kinase 2 deficiency (TK2d), KYGEVVI®

The clinical trial, which also involved Vall d’Hebron, shows that the new therapy improves survival by 86% in patients with thymidine kinase 2 deficiency (TK2d).

UAB research intro gene therapy for SPG52 receives €100,000 donation

by Universitat Autònoma de Barcelona (UAB)

8 months ago
type 52 spastic paraplegia (SPG52).

With this new donation, the study carried out by the Gene Therapy Group for the Central Nervous System, in collaboration with the La Lucha de Abril association, has received over €750,000 in donatio...

Genetic events that could trigger leukaemia in patients with a rare genetic disorder deciphered

by IDIBELL - Institut d’Investigació Biomèdica de Bellvitge

7 months ago
GATA2 deficiency disease, SETBP1 and ASXL1

A research team at IDIBELL reveals the genetic events that cause blood stem cell depletion and how these accelerate leukaemia development in patients with GATA2

La Caixa Foundation backs research into new treatments for a rare disease

by IRB Barcelona - Instituto de Investigación Biomédica

7 months ago
Myhre syndrome

IRB Barcelona receives funding for a research project headed by Dr. Maria Macias in ”la Caixa” Foundation's 2025 Health Research call.

AI learns from the tree of life to support rare disease diagnosis

by Centre for Genomic Regulation

7 months ago
popEVE

Researchers have created an artificial intelligence model that can identify which mutations in human proteins are most likely to cause disease, even when those mutations have never been seen before in...