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

Terapia génica más efectiva para la sordera de origen genético

by Revista Genética Médica

2 years ago
sordera autosómica recesiva 9 (DFNB9), Gen OTOF

Investigadores del Mass General Brigham y la Universidad de Fudán han optimizado su terapia génica para una sordera de origen genético con el fin de aplicarla a los dos oídos y mejorar sus efectos...

El Xeroderma Pigmentoso y la plataforma Share4Rare

by Fundació Sant Joan de Déu

2 years ago
Xeroderma Pigmentoso (XP), Share4Rare

El Xeroderma Pigmentoso (XP) es una enfermedad genética rara caracterizada por una extrema sensibilidad a la radiación ultravioleta (UV) del sol, debido a una deficiencia en los mecanismos de repara...

Una proteína tiene la clave de la división celular que origina los óvulos y espermatozoides en mamíferos

by CSIC - Centro Superior de Investigaciones Científicas

2 years ago
meiosis, E3 ligasas, gen RNF212B

Personal investigador del Centro de Investigación del Cáncer describe una nueva función de una enzima en la meiosis, un proceso necesario para asegurar la diversidad genética

Vall d’Hebron confirms the utility of the Ex Vivo C5b-9 deposition test for patients with aHUS and/or transplant-associated TMA

by Vall d’Hebron

2 years ago
thrombotic microangiopathy, TMA, Atypical hemolytic uremic syndrome (aHUS), C5b-9, complement system (CS), Ex Vivo C5b-9 test

A study from the Vall d’Hebron Campus demonstrates that the Ex Vivo C5b-9 deposition test is useful for monitoring the activity of the complement system (CS) in patients with aHUS or transplant-asso...

Down syndrome linked to changes in mobile DNA fragments

by Centre for Genomic Regulation

2 years ago
Down syndrome, retrotransposons, lamivudina

A study conducted by IrsiCaixa —a centre jointly supported by the "la Caixa" Foundation and the Department of Health of the Generalitat de Catalunya— and the Centre for Genomic Regulation (CRG) de...

Viral defence protein speeds up female stem cell production

by Centre for Genomic Regulation

2 years ago
pluripotent stem cells (iPSCs), interferon gamma (IFNγ), X chromosome, Klinefelter Syndrome

Researchers at the Centre for Genomic Regulation (CRG) have discovered a treatment which accelerates the production and quality of pluripotent stem cells in mice. This discovery that has the potent...

El 50% de casos de enfermedad renal crónica de origen desconocido presenta algún componente genético

by Revista Genética Médica

2 years ago
enfermedad renal crónica

Un estudio pionero en España ha analizado las posibles causas genéticas de la enfermedad renal crónica idiopática, es decir, de origen desconocido.

Cannabidiol demonstrated to alleviate symptoms of Leigh syndrome

by Universitat Autònoma de Barcelona (UAB)

2 years ago
cannabidiol (CBD), Leigh syndrome, PPARγ, metallothionein

It has been demonstrated that daily administration of CBD is a promising treatment option. Through its multiple action it provides antioxidant, anti-inflammatory and anticonvulsant effects, which impr...

El equipo científico del profesor de la UPO Sánchez Alcázar avanza en el tratamiento de enfermedades mitocondriales

by Universidad Pablo de Olavide, de Sevilla

2 years ago
mutación mitocondrial LIPT1, UPRmt, MITOCURE

Demuestran cómo las alteraciones patológicas en la mutación mitocondrial LIPT1 pueden ser corregidas por activadores de la UPRmt, un mecanismo de protección mitocondrial

A new mechanism of early-onset atherosclerosis in a premature aging syndrome

by Centro Nacional de Investigaciones Cardiovasculares - CNIC

2 years ago
atherosclerosis, progeria, EndMT process

The new study, published in the journal Circulation, opens a new avenue of research into treatments for the atherosclerosis associated with progeria

Discovery of a Therapeutic Pathway to Enhance the Cardioprotective Potential of HDL in People with Familial Hypercholesterolemia

by Hospital de la Santa Creu i Sant Pau

2 years ago
“good” cholesterol HDL, “bad” cholesterol (LDL), Heterozygous familial hypercholesterolemia, PCSK9 protein, macrophages

A new study reveals a therapeutic pathway that could improve the cardioprotective potential of “good” cholesterol (carried by HDL) in people with familial hypercholesterolemia, a genetic disorder ...

Research in Pitt-Hopkins at Sant Joan de Déu, a neurodevelopmental disorder

by Fundació Sant Joan de Déu

2 years ago
Pitt-Hopkins syndrome, TCF4 gene, MECP2 gene, Rett syndrome

Pitt-Hopkins syndrome is a rare genetic disorder, with an incidence of 1/11,000 to 1/41,000, caused by mutations in the TCF4 gene. This gene is crucial for the normal development of the nervous system...