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

A clinical study led by the Institute for Neurosciences reveals that aniridia causes a progressive loss of corneal sensitivity

by Institut de Neurociències

4 months ago
Congenital aniridia, PAX6 gene

The study, published in the journal Cornea, shows that this rare disease not only alters the structure of the cornea but also affects the function of the sensory nerves that protect and maintain it.

En el Día Mundial de las Enfermedades Raras, CIC bioGUNE destaca su investigación en patologías poco frecuentes

by CIC bioGUNE

4 months ago
ReChb, Chaperonas farmacológicas, Porfiria Eritropoyética Congénita, Ubiquitina, enfermedades priónicas, hipoxia, síndrome de Von Hippel-Lindau

El objetivo es comprender en profundidad los mecanismos moleculares que están detrás de las enfermedades raras y diseñar estrategias cada vez más precisas y efectivas. Aunque estas patologías son...

From Donor to Discovery: Tebubio Facilitates Access to Rare Cancer Samples

by Tebubio

4 months ago
Human Sample Sourcing

At Tebubio, they help researchers secure the biological materials they need reliably, compliantly, and without operational friction, so you can focus on discovery.

Targeted treatment for aggressive tenosynovial giant cell tumor

by VHIO

4 months ago
tenosynovial giant cell tumor (TGCT), pimicotinib, CSF-1 receptor

Published today in The Lancet, these positive results could lead to the regulatory approval of pimicotinib as an effective and well-tolerated therapeutic option, representing an important step forward...

They analyze a new pathway for the treatment of Sézary syndrome

by IMIM - Institut Hospital del Mar d'Investigacions Mèdiques

4 months ago
Sézary syndrome, signaling pathways

Blocking specific cellular signaling pathways may be an effective approach to treating this type of cutaneous lymphoma. One of its characteristics is its high genetic and molecular heterogeneity, whic...

Mitochondria identified as key player in a rare disease causing microcephaly

by IRB Barcelona - Instituto de Investigación Biomédica

4 months ago
aneuploidies, microcephaly, Mosaic Variegated Aneuploidy (MVA), proteotoxic stress, autophagy

The study has identified the cellular mechanism explaining why certain errors in chromosome division can lead to microcephaly, a condition where the brain develops to a smaller than average size

A retrospective study evaluates the use of systemic treatments in a rare bone tumour such as chordoma

by IDIBELL - Institut d’Investigació Biomèdica de Bellvitge

4 months ago
Chordoma, immunotherapy, tyrosine kinase inhibitors

The work is based on real clinical practice data and provides new evidence on the clinical activity of immunotherapy and tyrosine kinase inhibitors in the control of this disease.

Researchers from IRBLleida and the Vall d'Hebron Institute of Research identify several cases of a rare disease transmitted by a sperm donor

by IRB Lleida. Institut de Recerca Biomèdica

3 months ago
hereditary angioedema, F12 gene

The research describes the world's first documented case of transmission of hereditary angioedema through assisted reproduction

A new genomic technique reveals a previously undetectable genetic alteration in hereditary angioedema

by Vall d’Hebron

3 months ago
hereditary angioedema, SERPING1 gene, optical genome mapping

A Vall d’Hebron team demonstrates, for the first time, the potential of optical genome mapping to detect genetic alterations associated with this rare disease that are not identified using conventio...

Understanding drug mechanisms to accelerate new therapies for Leigh syndrome

by CIC bioGUNE

2 months ago
Leigh syndrome, Sildenafil, Talarozole

Two recent studies published in Nature Communications and Cell show how the integration of computational models and experimental validation accelerates the understanding of drug mechanisms of action a...

A study expands the genetic basis of an encephalopathy associated with epilepsy and autism

by Universitat de Barcelona

2 months ago
SYNGAP1 gene, SYNGAP1 encephalopathy, p.Ala591Pro, p.Val447Leufs*5, p.Thr674Profs*36 and p.Arg143Glnfs*9, SHANK1, SHANK3 and NLGN2

A multicentre study describes the wide variability in clinical symptoms among patients and reveals that the severity of the disease does not depend exclusively on the SYNGAP1 gene, but on other geneti...

Las mutaciones de novo explican casos graves de deficiencia de antitrombina sin antecedentes familiares

by Universidad de Murcia

2 months ago
mutaciones de novo, deficiencia de antitrombina, gen SERPINC1

Demuestran el papel relevante de las mutaciones de novo en la deficiencia de antitrombina, una enfermedad genética rara causada por alteraciones en el gen SERPINC1 que incrementa significativamente e...