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Genetics news
Genetics
Knocking out one key gene leads to autistic traits, mouse study shows
More than 70 genes have been linked to autism spectrum disorder (ASD), a developmental condition in which differences in the brain lead to a host of altered behaviors, including issues with language, social communication, ...
Aug 16, 2024
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Oncology & Cancer
New guidelines on how to report clinical sequencing data help doctors make decisions about cancer treatment
Personalized medicine is transforming cancer treatment by tailoring therapies to the genomic profile of each tumor. Next-generation sequencing (NGS) is key to this approach, but its complexity and inconsistent reporting have ...
Aug 16, 2024
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First successful treatment of pediatric high-risk refractory neuroblastoma with PARP inhibition
St. Jude Children's Research Hospital scientists report the first successful treatment of a pediatric patient with high-risk refractory neuroblastoma using a targeted therapy guided by clinical genomics.
Aug 15, 2024
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Study unveils impact of cardiovascular risk factors on genetic predisposition to heart disease
Physician-scientists from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine have unveiled critical insights into the influence of high-proportion spliced-in titin truncating variants, or hiPSI ...
Aug 15, 2024
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New way to extend 'shelf life' of blood stem cells can improve gene therapy
Researchers have identified a drug already used for cancer patients, that, when applied to current gene therapy protocols can improve blood stem cell function threefold.
Aug 15, 2024
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Study suggests way to improve treatment of hereditary breast cancer
PARP inhibitors have improved survival of breast cancer patients with BRCA1/2 mutations, but the drugs eventually stop working and the cancer returns.
Aug 15, 2024
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Q&A: Differences of sex development 101—it's complicated
Boy or girl? It's not always as simple as that. Internationally renowned researcher into differences of sex development (DSDs), Professor Vincent Harley, introduces the topic and answers your questions—separating fact from ...
Aug 15, 2024
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New international guidelines could boost accuracy for cancer genetic testing
New international guidelines developed by QIMR Berghofer researchers are expected to improve the accuracy of genetic tests that determine a person's cancer risk.
Aug 15, 2024
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Pioneering study identifies six genetic regions associated with normal pressure hydrocephalus
A new study by the University of Eastern Finland and partners identified new genetic variants associated with normal pressure hydrocephalus (NPH). Published in Neurology, the study is the first large-scale genome-wide association ...
Aug 15, 2024
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Researchers discover rare sequence variants that associate with a high risk of Parkinson's disease
Scientists at deCODE genetics, a subsidiary of AMGEN, have discovered rare sequence variants, predicted to cause a loss of function of ITSN1, that are associated with a high risk of Parkinson's disease. The findings also ...
Aug 15, 2024
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New research poised to transform approach to diagnosing and treating acute leukemia in children
Researchers at Children's Hospital of Philadelphia (CHOP), St. Jude Children's Research Hospital (St. Jude) and the Children's Oncology Group (COG) today announced a significant paradigm shift in the understanding of T-lineage ...
Aug 14, 2024
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New TNIP1 mutation discovery offers fresh hope for disease that can cause blindness
An international team of scientists including researchers from The Australian National University (ANU) have identified a rare, mutated version of a protein called TNIP1 that causes a chronic autoimmune disease similar to ...
Aug 14, 2024
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Leading AI models struggle to identify genetic conditions from patient-written descriptions, researchers find
National Institutes of Health (NIH) researchers have discovered that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less ...
Aug 14, 2024
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Researchers call for genetically diverse models to drive innovation in drug discovery
Researchers at The Jackson Laboratory (JAX) have unveiled a new approach to drug discovery that could revolutionize how we understand and treat diseases. Their commentary in the Aug.14 issue of Nature Biotechnology explains ...
Aug 14, 2024
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New haplotype reference panel for UK Biobank identifies several new rare-variant associations for tested traits
In research reported in Nature Genetics, Professor Sir Mark Caulfield with Dr. Sinan Shi and Professor Simon Myers, both from Statistics at the University of Oxford, used records from over 78,000 individuals in the Genomics ...
Aug 14, 2024
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ADHD and DNA: International study sheds light on genetics
Rare genetic changes that are spontaneous—and not inherited from parents—may contribute to the underpinnings of attention-deficit/hyperactivity disorder (ADHD), according to a new study from Yale School of Medicine.
Aug 13, 2024
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STAG2 protein mutations and associated spatial alteration of DNA structure can contribute to development of leukemia
Researchers at the Leibniz Institute for Immunotherapy (LIT) studied hundreds of patients with acute myeloid leukemia (AML). They discovered that specific mutations in the STAG2 protein cause altered DNA folding in the cell ...
Aug 13, 2024
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Genetics of COPD important for lung function in young people, study finds
Certain genetic variants that have previously been linked to the lung disease COPD can explain reduced lung function already in children and adolescents, according to researchers at Karolinska Institutet. The results are ...
Aug 13, 2024
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First genome-wide comparison of vapers and smokers finds similar DNA changes linked to disease risk
In the most comprehensive study of its kind, researchers from the Keck School of Medicine of USC compared epigenetic changes across the genome in young adults who vaped, smoked or did not use nicotine products, finding a ...
Aug 13, 2024
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AI accurately diagnoses genetic condition from facial photographs
A Yale School of Medicine team reports in a new study that an artificial intelligence (AI) model was able to reliably diagnose people living with Marfan syndrome from a simple facial photograph.
Aug 12, 2024
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Comprehensive atlas of normal breast cells offers new tool for understanding breast cancer origin
Researchers at the Indiana University Melvin and Bren Simon Comprehensive Cancer Center have completed the most extensive mapping of healthy breast cells to date. These findings offer an important tool for researchers at ...
Aug 12, 2024
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Taking a 'one in a million' shot to tackle dopamine-linked brain disorders
Dopamine, a powerful brain chemical and neurotransmitter, is a key regulator of many important functions such as attention, experiencing pleasure and reward, and coordinating movement. The brain tightly regulates the production, ...
Aug 12, 2024
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First-of-its-kind proteomic study of pancreatic neuroendocrine tumors may open door to new therapies
Pancreatic neuroendocrine tumors (PanNETs) are a rare form of pancreatic cancer for which predicting patient clinical outcomes and providing appropriate patient management remain challenging.
Aug 12, 2024
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Scientists identify genes linked to relapse in the most common form of childhood leukemia
Scientists from St. Jude Children's Research Hospital, Seattle Children's and the Children's Oncology Group (COG) have identified novel genetic variations that influence relapse risk in children with standard risk B-cell ...
Aug 12, 2024
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Gene-related metabolic dysfunction may be driving heart arrhythmia
Patients with a common heart arrhythmia called atrial fibrillation could benefit from future treatments that target inefficiencies in heart cell metabolism, a new paper has found.
Aug 12, 2024
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