Study reveals molecular subtypes of Down syndrome, offering insights for personalized medicine approaches
A new study published in Nature Communications by researchers from the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz Medical Campus reports a significant breakthrough.
15 hours ago
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Gene behind rare muscle disease discovered
Researchers at the Harry Perkins Institute of Medical Research and The University of Western Australia (UWA) have discovered the genetic cause of a rare muscle disease that causes muscle weakness, droopy eyelids and difficulty ...
18 hours ago
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DNA fragments help detect kidney organ rejection
Findings from a study published in Nature Medicine show that donor-derived cell-free DNA (dd-cfDNA), also called liquid biopsy, has the potential for early detection of kidney transplant rejection.
Aug 7, 2024
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The battle against glioblastoma: Classifying molecular profiles for precision medicine
Glioblastoma multiforme (GBM) stands as a formidable adversary in oncology, characterized by its molecular complexity and relentless progression. Despite advancements, the high degree of tumor heterogeneity and its tendency ...
21 hours ago
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Your best friend from high school? Here's why their genes mattered
Mom always said, "Choose your friends wisely." Now a study led by a Rutgers Health professor shows that she was onto something: Their traits can rub off on you—especially ones that are in their genes.
Aug 7, 2024
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Research team reveals how TREM2 genetic mutation affects late-onset Alzheimer's
Researchers led by the University of California, Irvine have discovered how the TREM2 R47H genetic mutation causes certain brain areas to develop abnormal protein clumps, called beta-amyloid plaques, associated with late-onset ...
Aug 6, 2024
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Scientists use DNA methylation patterns as roadmap for identifying causes of severe epilepsies in children
To effectively treat a disease or disorder, doctors must first know the root cause. Such is the case for developmental and epileptic encephalopathies (DEEs), whose root causes can be hugely complex and heterogeneous.
Aug 6, 2024
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Age impacts pharmacogenomics and treatment outcomes for most common form of leukemia
Acute lymphoblastic leukemia (ALL) affects both children and adults, but children have better chances to be cured, with long-term survival rates of over 85% compared to 50%–75% in adults.
Aug 6, 2024
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Study finds noncoding RNAs dysregulated in several human cancers
Northwestern Medicine scientists have discovered new insights into the production and regulation of a class of noncoding RNAs and how alterations in their signatures diversify and modulate the transcriptome of three major ...
Aug 5, 2024
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Study finds omega-3 supplements reduce genetic risk of high total cholesterol, LDL and triglyceride levels
Fish oil supplements are a multi-billion dollar industry in the U.S. and abroad, with about 2 out of every 25 people popping the popular omega-3 pills.
Aug 5, 2024
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Researchers explain the mechanisms beyond glucocorticoid resistance in infant MLLr B-ALL leukemia
B-ALL is the most common pediatric cancer and, over the years and thanks to a very effective treatment based on glucocorticoids, its 5-year survival rates have reached 85% and beyond. However, there is a B-ALL subtype, commonly ...
Aug 5, 2024
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Circular RNAs—the new frontier in cancer research
Unraveling the complexities of circular RNAs (circRNAs) in cancer biology has positioned scientists on the cusp of revolutionary breakthroughs in the diagnosis and treatment of cancer.
Aug 2, 2024
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Researchers highlight the genetic complexity of schizophrenia
Patrick Sullivan, MD, FRANZCP, the Yeargan Distinguished Professor of Psychiatry and Genetics at the UNC School of Medicine, and researchers at the Karolinska Institutet in Stockholm, Sweden, have developed a comprehensive ...
Aug 2, 2024
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Novel sequencing approaches highlight role of brain gene activity in Alzheimer's disease
Innovative new research has revealed that the activity of different versions of genes expressed in the brain is associated with the accumulation of the protein tau, which is a hallmark of Alzheimer's disease.
Aug 2, 2024
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Research identifies gene–environment interactions to reveal biological insights into complex traits
Xiaofeng Zhu, professor in the Department of Population and Quantitative Health Sciences at the School of Medicine, has led research to screen for interactions across the genome. The team has empirically demonstrated that ...
Aug 2, 2024
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Scientists create cost-effective, easy-to-use test to categorize a child's cancer and guide better treatment
Scientists at St. Jude Children's Research Hospital have created a panel that is able to provide a diagnosis for more than 90% of pediatric cancer patients by sequencing 0.15% of the human genome. The panel is a cost-effective ...
Aug 2, 2024
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Novel approach to study hypoxia enables identification of a marker for ovarian cancers
In a new study, the team led by Étienne Gagnon, Professor in the Department of Microbiology, Infectious Diseases and Immunology at the Université de Montréal and Director of IRIC's Cancer Immunobiology Research Unit, has ...
Aug 2, 2024
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Targeted therapy extends survival in cancers of unknown primary
If metastases occur in the body, but the original tumor remains undetectable, this is referred to as "cancer of unknown primary" (CUP). But if information on the tissue of origin is missing, neither organ-specific chemotherapy ...
Aug 1, 2024
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Why clinical trials stop: Researchers find a link between genetic evidence and trial outcome
Failure is the most likely outcome of a clinical trial. Learning from these failures by understanding which factors maximize the chances of a successful trial would help improve the drug discovery process. However, accessing ...
Aug 1, 2024
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Researchers shed light on cancer drug resistance, potential to expand use of PARP inhibitors across cancer types
A research team led by Professor Ying Wai Chan from the School of Biological Sciences at The University of Hong Kong (HKU) has made a significant breakthrough in understanding how cancer cells develop resistance to a class ...
Jul 31, 2024
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Researchers use AI-powered method to identify genetic epilepsies earlier than current genetic diagnosis
Diagnosing the genetic cause of a disease can aid in finding therapies and directing treatment, but often these diagnoses occur long after the disease has impacted a patient's life. In a new study, researchers from Children's ...
Jul 31, 2024
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BRCA1 gene mutation may increase the risk of impaired fertility, study shows
People with a BRCA1 gene mutation, which increases breast and ovarian cancer risk, are also at increased risk of impaired fertility, Monash University-led research has confirmed in preclinical models and human tissue samples.
Jul 31, 2024
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Scientists outline key challenges and promising avenues in obesity genetics
Research on the genetics of obesity dates to the early 1920s, with many of the initial findings indicating the complexity and multifaceted nature of obesity perfectly resonating with more modern discoveries. Researchers at ...
Jul 31, 2024
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