rare diseases

rare diseases

rare diseases

Association found between certain metabolic errors and the risk of sudden death in infants

A case-control study published in JAMA Pediatrics reports a relationship between certain aberrant metabolic biomarkers at birth and sudden infant death syndrome (SIDS). Although the research is preliminary and no screening test for this syndrome is yet available, the researchers believe their study is an important step toward integrating metabolic and genetic markers to identify infants at higher risk of sudden death.

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Reactions: gene therapy improves Hurler syndrome skeletal disorders

Hurler syndrome is a rare and very serious disease caused by an enzyme deficiency, which results in a wide variety of signs and symptoms. Treatment with bone marrow transplantation helps to alleviate some of them, but has little effect on skeletal disorders. Now, a phase I/II trial has tested an autologous transplant of blood stem cells corrected by gene therapy in eight patients. The results, published in the journal Science Translational Medicine, suggest that the treatment is more effective and could also improve these types of disorders. 

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Reaction: EMA gives green light to EU's first CRISPR gene-editing drug

The European Medicines Agency (EMA) has recommended approval of the first drug in the European Union to use the CRISPR/Cas9 gene-editing technique. The drug, Casgevy, is indicated for the treatment of two rare inherited diseases, beta thalassaemia and sickle cell disease (sickle cell anaemia), caused by genetic mutations that affect the production or function of haemoglobin, the oxygen-carrying protein in red blood cells. Both conditions are debilitating and potentially fatal. The EMA opinion will be sent to the European Commission for a decision on an EU-wide marketing authorisation.

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A brief guide to inform and educate about rare diseases

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.   

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Reaction: Neonatal screening for spinal muscular atrophy improves children's walking ability at two years of age

Between 2018 and 2020, a pilot programme conducted neonatal genetic screening of children born in Australia for spinal muscular atrophy, allowing treatment to begin early. A study just published in The Lancet Child & Adolescent Health looks at their condition at two years of age and concludes that they had better movement ability, including the ability to walk, compared to children diagnosed once they develop symptoms. According to the authors, the findings justify further implementation of neonatal screening for the disease.

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Reactions to the new mapping of rare disease diagnoses in Spain since 1960

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.

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