Categoría: Noticias
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New genetic findings offer therapeutic approaches for incurable autoimmune disease SLE
Systemic lupus erythematosus (SLE) is an autoimmune disease, in which the immune system that normally protects the body from invading microbes, turns against the body’s own cells. This autoimmune attack can affect any organ and patients commonly develop skin rashes, joint inflammation, blood clots, kidney failure, heart disease, fatigue and psychiatric problems. To date, there…
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Newly identified genes for depression may lead to new treatments
More than 200 genes linked to depression have been newly identified in a worldwide study led by UCL researchers. The research, published in Nature Genetics, found more than 50 new genetic loci (a locus is a specific position on a chromosome) and 205 novel genes that are associated with depression in the first large-scale global study of the…
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Ancient DNA reveals reason for high multiple sclerosis and Alzheimer’s rates in Europe
Researchers have created the world’s largest ancient human gene bank by analyzing the bones and teeth of almost 5,000 humans who lived across western Europe and Asia up to 34,000 years ago. By sequencing ancient human DNA and comparing it to modern-day samples, the international team of experts mapped the historical spread of genes—and diseases—over…
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This One Microglia Mutation Could Triple Your Alzheimer’s Risk – Here’s Why
A new study finds that microglia with mutant TREM2 protein reduce brain circuit connections, promote inflammation, and contribute to Alzheimer’s pathology in other ways. A rare but potent genetic mutation that alters a protein in the brain’s immune cells, known as microglia, can give people as much as a threefold greater risk of developing Alzheimer’s disease. A…
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Research discovers gene that links deafness to inner ear cell death
Researchers have found a gene that links deafness to cell death in the inner ear in humans—creating new opportunities for averting hearing loss. A person’s hearing can be damaged by loud noise, aging and even certain medications, with little recourse beyond a hearing aid or cochlear implant. But now, UCSF scientists have achieved a breakthrough in understanding…
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Study reveals crucial ‘housekeeping’ genetic elements and their potential to fight cancer
Technological advancements have enabled scientists to comprehensively explore genetic control elements, unraveling the complexities of gene activation mechanisms in our genetic code. New evidence challenges the simplistic view that cis-regulatory elements (CREs) are mere on/off switches for genes, emphasizing their ability to exhibit complex behaviors, such as the simultaneous enhancement of gene activity and initiation…
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A leap forward in women’s health: Unlocking genetic clues to gestational diabetes
A new study led by researchers from the University of Helsinki, along with colleagues at the Massachusetts General Hospital and Broad Institute of Harvard and MIT, provides significant breakthroughs in our understanding of the genetics behind gestational diabetes. Gestational diabetes is a common pregnancy disorder annually affecting more than 16 million pregnancies worldwide, with substantial health implications…
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Variants in synaptic scaffolding protein PPFIA3 discovered to cause new syndromic neurodevelopmental disorder
An international collaborative study has recently discovered that variants in the PPFIA3 gene cause a previously unknown syndromic neurodevelopmental disorder. The study was published in the American Journal of Human Genetics. The research was led by postdoctoral scientist Dr. Maimuna Paul and child neurologist Dr. Hsiao-Tuan Chao, an assistant professor at Baylor College, a faculty member with the…
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Understanding the role of a new enzyme in the development of autism spectrum disorder
Over the past decades, scientists have made substantial progress unveiling the underlying mechanisms behind many psychiatric disorders. Every year, new genetic mutations or protein dysregulations are identified as potential culprits for the symptoms and sometimes even the root causes of complex neurological diseases, including autism spectrum disorder (ASD), schizophrenia, and Alzheimer’s. Despite these efforts, the…
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Proof-of-concept study presents a blood test that can identify genetic diseases in fetuses
JANUARY 4, 2024 Editors’ notes Proof-of-concept study presents a blood test that can identify genetic diseases in fetuses by University of Southern Denmark A research team from Odense University Hospital and the University of Southern Denmark has developed an innovative screening test. With a blood sample from the expectant mother, they can scrutinize all the genes…