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Genetics news
Genetics
Gene therapy halts progression of rare genetic condition in young boy
When Michael Pirovolakis received an individualized gene therapy in a single-patient clinical trial at The Hospital for Sick Children (SickKids) in March 2022, the course of his condition was dramatically altered.
18 hours ago
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Genetics
Study reveals significant differences in RNA editing between postmortem and living human brain
Researchers from the Icahn School of Medicine at Mount Sinai have shed valuable light on the nuanced functions and intricate regulatory methods of RNA editing, a critical mechanism underlying brain development and disease.
15 hours ago
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New genetic markers for adrenal cancer may predict survival
A new study from Karolinska Institutet shows that 45 genes may play a crucial role in the prognosis of patients with adrenal cancer. The findings, published in the journal ESMO Open, give hope for a better diagnostic tool ...
Jun 27, 2024
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Combining genomic analyses and outcome data is promising strategy for prostate cancer treatment
Combining genomic analyses with information about clinical outcomes is a highly promising strategy to understanding prostate cancer and its treatment. Researchers say it could change how the disease is predicted and make ...
Jun 26, 2024
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Nf1 gene mutations disrupt brain cell plasticity and motor learning in mice
Neurogenetic disorders, such as neurofibromatosis type 1 (NF1), are diseases caused by a defect in one or more genes, which can sometimes result in cognitive and motor impairments. Better understanding the neural underpinning ...
Study identifies high-risk type of childhood acute leukemia and potential treatment strategy
Understanding the molecular characteristics of cancer that impact patient outcomes is essential to identifying novel treatment strategies for the most intractable pediatric malignancies. Many of these diseases are difficult ...
Jun 26, 2024
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Molecular mapping reveals tissue-specific gene regulation by diabetes-linked transcription factors
Scientists have generated a comprehensive map of the gene targets regulated by the transcription factors HNF4A and HNF1A in human pancreatic beta cells and liver cells. Published in the journal Nature Communications, the ...
Jun 26, 2024
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Gene variant may underlie diabetes disparities
A genetic variation common in people of African ancestry is associated with an increased risk of complications from diabetes, including diabetic retinopathy, according to a report published June 25 in the journal Nature Medicine.
Jun 25, 2024
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SNP rs13194504 AA genotype links to severity of tardive dyskinesia
For patients with schizophrenia, the single-nucleotide polymorphism (SNP) rs13194504 AA genotype is associated with reduced severity of tardive dyskinesia (TD), but is not associated with occurrence, according to a study ...
Jun 25, 2024
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Genetic testing cannot reveal the gender of your baby—explaining the complexities of sex and gender
Gender reveal parties are best known as celebrations involving pink and blue, cake and confetti, and the occasional wildfire. Along with being social media hits, gender reveals are a testament to how society is squeezing ...
Jun 25, 2024
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Q&A: Advanced genetic tools help researchers ID new neurodevelopmental syndrome
In a recent study, a Yale-led research team described for the first time a rare neurodevelopmental syndrome that begins affecting patients during infancy and typically causes developmental delays, severe seizures, cardiac ...
Jun 25, 2024
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Study reveals same genes that can drive cancer also guide neural-circuit growth
Many people are familiar with oncogenes—genes long known to be involved in cancers in humans, such as the gene Src. What's less widely understood is that oncogenes didn't evolve just to cause cancer in species, but rather ...
Jun 24, 2024
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Study reveals new opportunities to develop cancer treatments
Researchers at Baylor College of Medicine and collaborating institutions have uncovered new potential therapeutic targets for cancer and new insights into existing cancer drug targets, expanding the breadth of possibilities ...
Jun 24, 2024
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Study elucidates crucial role of G900 gene enhancers in asthma-associated inflammation
Asthma patients experience respiratory distress due to allergens like house dust mites or pollen. However, the various triggers for asthma share a common pathway involving the release of proteins called type-2 cytokines by ...
Jun 24, 2024
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New technology helps solve the unsolvable in rare disease diagnoses
At Mayo Clinic, the mission to solve the unsolvable is at the heart of every rare disease case. Each diagnosis is a testament to perseverance, innovation and the relentless pursuit of answers.
Jun 24, 2024
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Scientists identify genes linked to brain cell loss in amyotrophic lateral sclerosis
In a small study, researchers have discovered how a set of genes could cause neurons to die in sporadic amyotrophic lateral sclerosis (ALS). The results, published in Nature Aging, provide insight into the root causes of ...
Jun 24, 2024
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Study uncovers multiple molecular subgroups in liver cancer with most aggressive driving clinical outcomes
A study led by clinician-scientists and scientists from the National Cancer Centre Singapore (NCCS) and A*STAR's Genome Institute of Singapore (GIS) has discovered unexpected molecular heterogeneity even within the same liver ...
Jun 24, 2024
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Progress in biomarkers related to biliary atresia
Biliary atresia (BA) is a severe neonatal liver disease characterized by inflammatory and fibrotic obliteration of intrahepatic and extrahepatic bile ducts. This condition often leads to neonatal jaundice, cirrhosis, and ...
Jun 22, 2024
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Study uncovers hidden DNA mechanisms of rare genetic diseases
Researchers at the Pacific Northwest Research Institute (PNRI) and collaborating institutions have made a discovery that could significantly advance our understanding of genomic disorders. Their latest study, published in ...
Jun 21, 2024
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C. elegans study finds mRNA balance in cells influences lifespan
Why do some people live for longer than others? The genes in our DNA sequence are important, helping avoid disease or maintain general health, but differences in our genome sequence alone explain less than 30% of the natural ...
Jun 21, 2024
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