Categoría: Diseases, Conditions, Syndromes
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Study identifies erythropoietin as a potential active ingredient in Primrose syndrome
A research team from Mannheim, Göttingen, Varna, and Princeton has discovered in animal studies with mice that the growth factor recombinant human erythropoietin (rhEPO) can significantly improve cognitive and social problems in Primrose syndrome. Prim…
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The developing Down syndrome brain: Scientists create most detailed molecular map to date
Scientists from Duke-NUS Medical School, working with collaborators at Imperial College London and partners in Europe and the United States, have uncovered new insights into how an additional copy of chromosome 21 alters brain development in Down syndr…
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Vitamin B3 therapy offers hope for fatal childhood disease
Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases. Instead of starting with a disease and hunting for a cure, they began with vitamins and systematically identified genetic dise…
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Study reveals why some immune disorders trigger severe food allergies, and others don’t
A new study has shed light on why patients with certain rare immune disorders develop severe, food-triggered allergic reactions while others with similar diagnoses do not. The findings, published in the Journal of Experimental Medicine, could help guid…
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Engineers sharpen gene-editing tools to target cystic fibrosis
Engineers at the University of Pennsylvania and Rice University have refined a technology for editing individual genetic «base pairs» to a new level of precision, opening the door to safer, more reliable therapies for a wide range of genetic diseases, …
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Down syndrome study sheds new light on early brain development
A research team led by scientists at Queen Mary University of London and University College London (UCL) has found new clues about how the brains of people with Down syndrome develop differently from a very early age. The study, published in Nature Com…
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DeepRare AI outperforms doctors on rare disease diagnosis in head-to-head test
Rare diseases are complex medical disorders that are notoriously difficult to diagnose because many present with a wide variety of symptoms that can overlap with more common illnesses. Currently, around 300 million people globally are affected by these…
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Largest study of rare skin cancer in Mexican patients shows that it is more complex than previously thought
Genetic ancestry may play a key role in how acral melanoma, a rare and aggressive type of skin cancer, develops and behaves, with important implications for diagnosis and treatment, according to researchers at the Wellcome Sanger Institute, National Au…
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Nanoparticle-based gene editing could expand treatment options for cystic fibrosis
UCLA researchers have developed a lipid nanoparticle-based gene-editing approach capable of inserting an entire healthy gene into human airway cells, restoring key biological function in a laboratory model of cystic fibrosis and establishing a potentia…
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Researchers identify genetic variants and patterns associated with hypermobile Ehlers–Danlos syndrome
Hypermobile Ehlers-Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders. Early estimates have reported that this genetic disorder affects at least one in 5,000 individuals, and more recently it has been estimated to af…