Autor: Clinical genetics
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AI tool can identify biological profiles associated with thrombosis risk
Two people may be the same age and have similar family histories or risk factors, yet only one of them may develop thrombosis. To better understand why this occurs, researchers from the Complex Disease Genomics Unit at the Sant Pau Research Institute (…
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Fibronectin pathway may drive Marfan aortic damage, opening new drug targets
A new study published in Nature Communications identifies a molecular signaling pathway that contributes to the development of life-threatening aortic aneurysms and dissections in Marfan syndrome, a genetic disorder affecting connective tissue. The fin…
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Fibronectin pathway may drive Marfan aortic damage, opening new drug targets
A new study published in Nature Communications identifies a molecular signaling pathway that contributes to the development of life-threatening aortic aneurysms and dissections in Marfan syndrome, a genetic disorder affecting connective tissue. The fin…
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Genetic information helps predict the onset and progression of glaucoma
Glaucoma is the leading cause of irreversible visual impairment worldwide. Because the disease often progresses without symptoms for years, many patients are diagnosed only after permanent damage to the optic nerve has already occurred. Earlier detecti…
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Genetic information helps predict the onset and progression of glaucoma
Glaucoma is the leading cause of irreversible visual impairment worldwide. Because the disease often progresses without symptoms for years, many patients are diagnosed only after permanent damage to the optic nerve has already occurred. Earlier detecti…
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Survey suggests Europeans support state-funded fertility care and embryo research across 4 countries
A new Europe-wide survey launched during the 42nd Annual Meeting of the European Society of Human Reproduction and Embryology (ESHRE) suggests broad public support for fertility treatment and several areas of reproductive research, while highlighting k…
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Survey suggests Europeans support state-funded fertility care and embryo research across 4 countries
A new Europe-wide survey launched during the 42nd Annual Meeting of the European Society of Human Reproduction and Embryology (ESHRE) suggests broad public support for fertility treatment and several areas of reproductive research, while highlighting k…
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New tumor map identifies high-risk B-cell lymphoma standard therapy may miss
Researchers led by Universitätsmedizin Frankfurt and Goethe University Frankfurt have identified how particularly aggressive forms of lymphoma can be recognized. By combining genetic and proteomic analyses, the scientists identified biological characte…
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New tumor map identifies high-risk B-cell lymphoma standard therapy may miss
Researchers led by Universitätsmedizin Frankfurt and Goethe University Frankfurt have identified how particularly aggressive forms of lymphoma can be recognized. By combining genetic and proteomic analyses, the scientists identified biological characte…
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National rare disease registry may improve care for patients
In Sweden, more than 500,000 individuals live with a rare condition. Globally, approximately 7,000 distinct rare diseases have been identified, the majority of which have a genetic etiology. Expertise regarding these diagnoses is often limited among he…