Research professor at the National Biotechnology Centre (CNB-CSIC) and at the CIBERER-ISCIII
Every February 28 or 29, World Rare Disease Day is celebrated, an initiative that aims to raise awareness about rare diseases in order to improve access to diagnosis and treatment and achieve a better quality of life among those who suffer from them. Here are some frequently asked questions about the most important concepts, their current situation and the main complaints that affected individuals and families continue to have.
In January 2013, two laboratories demonstrated that CRISPR tools could be used to edit genes in human cells. Ten years later, the first patients are already benefiting from the molecular scissors to overcome incurable diseases. This week in Science, one of the pioneers of CRISPR, Nobel laureate Jennifer Doudna, summarises the history of these tools, without forgetting that it all began thirty years ago with the findings of Francis Mojica in the Santa Pola salt flats.
Ischaemia-reperfusion injury is one of the causes of damage caused by diseases such as myocardial infarction. A study published in the journal Science has used base editors, a gene-editing tool derived from CRISPR, to modify a key protein in the hearts of mice. According to the authors, the intervention allowed them to recover their function after a heart attack and could potentially be used in a wide range of patients, as it does not depend on the presence of a specific mutation.
A team of researchers from the Health Institute Carlos III has published an article quantifying the diagnostic delay of rare diseases in Spain with data from the period 1960-2021. The study reveals that more than half of the patients experienced a delay in diagnosis, that the average delay exceeds six years, and that both the percentage of those affected by the delay and the average time have decreased over the years.
A US team has successfully integrated brain-like tissue derived from human stem cells into the brains of newborn rats. The research is published in the journal Nature.
The extraordinary plenary session of the Congress of Deputies today approved the reform of the Law on Science, Technology and Innovation. After being passed in the Lower House without any votes against it on 23 June, the bill was approved in the Senate on 20 July with an amendment referring to indefinite-term contracts, which was rejected today in Congress.
Research published in Nature shows the creation of synthetic mouse embryos derived from stem cells. The embryo model copies the stages of natural rodent embryo development that take place up to day 8.5 after fertilisation and includes regions of the brain, a neural tube and a structure similar to a beating heart.
The variety of current dog breeds is the product of two centuries of human intervention, which has often selected characters for extravagance or supposed aesthetics. Lluís Montoliu, president of the CSIC Ethics Committee until last February, recalls that 15% of current dog breeds have some sort of more or less serious congenital disease.