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Genetics news
Genetics
Genomic study on ulcers in European and Asian populations could lead to new population-specific treatments
Researchers studied stomach and duodenal ulcers in a large research project comparing Japanese and European populations. They found 25 new genetic markers linked to ulcers which showed that, though these sores on the walls ...
Dec 8, 2023
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Oncology & Cancer
Potentially targetable fusion RNAs may be more common in metastatic breast cancer than previously realized
Comprehensive profiling of fusion RNAs present in a large cohort of metastatic breast tumors revealed unique fusion mutations that may be therapeutically targetable, according to results presented at the San Antonio Breast ...
Dec 8, 2023
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Researchers reveal uncharted liver-focused pathway in gene therapy immune responses
Indiana University School of Medicine researchers have uncovered vital insights regarding a liver trigger that blocks an undesired immune response from gene therapy, surprisingly resulting in activating specific immune cells ...
Dec 7, 2023
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Research lays groundwork for promising new gene therapy approach for genetic heart disease: Clinical trials imminent
Researchers at the Hubrecht Institute have laid the foundation for the development of a gene therapy for the genetic heart disease arrhythmogenic cardiomyopathy (ACM). Their approach, based on replacement of the PKP2 gene, ...
Dec 7, 2023
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Researchers develop approach to study rare gene variant pairs that contribute to disease
Each gene in the human genome has two copies. When researchers detect two mutations within a particular gene in a patient's genome, it can be difficult or expensive to determine if those two mutations are present in the same ...
Dec 7, 2023
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Researchers develop a promising gene-editing strategy for spinal muscular atrophy
Spinal muscular atrophy (SMA) is a devastating pediatric neuromuscular disorder caused by loss-of-function mutations in the SMN1 gene, which prevents the body from producing enough of the survival motor neuron (SMN) protein ...
Dec 7, 2023
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Large-scale DNA sequence resource reveals new regions of the human genome under natural selection
Every human's genome has millions of genetic variants, but most have little to no effect, making it difficult for clinicians to make medical diagnoses based on genetic differences.
Dec 7, 2023
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Specific genetic variant may help prevent obesity
A preclinical study by Weill Cornell Medicine investigators shows that a specific human genetic variant of a receptor that stimulates insulin release may help individuals resist obesity. The researchers discovered that this ...
Dec 7, 2023
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Exploring novel leukemia therapies using the 'the complex alphabet of mRNA'
Around 320,000 new cases of leukemia, a type of blood cancer that can affect all population groups, are diagnosed every year in Europe. In children, cases of leukemia make up a third of diagnosed cancers. Chemotherapy is ...
Dec 7, 2023
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Early life gene epimutation may contribute to breast cancer development
Research reveals that around 20 percent of all cases of the most severe form of breast cancer may arise from the small group of normal tissue cells carrying an epimutation of a specific gene.
Dec 7, 2023
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Criteria for better assessment of rare genetic variants that can lead to hereditary colorectal cancer
Genetic confirmation of the suspected diagnosis of "hereditary colorectal cancer" is of great importance for the medical care of affected families. However, many of the variants identified in the known genes cannot currently ...
Dec 7, 2023
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Accelerating drug development for lung diseases: New insights from single-cell genomics
Drug development for lung diseases is complicated. Most clinical trials that test novel drugs fail due to the fact that laboratory models cannot accurately replicate human physiology.
Dec 6, 2023
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First map of human limb development reveals unexpected growth processes and explains syndromes found at birth
Human fingers and toes do not grow outward; instead, they form from within a larger foundational bud, as intervening cells recede to reveal the digits beneath. This is among many processes captured for the first time as scientists ...
Dec 6, 2023
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Map of disease-causing mutations in neurodevelopmental disorders and cancer revealed
Researchers now understand the functional impact of thousands of genetic changes within the DDX3X gene. This could lead to enhanced diagnosis and treatment of various neurodevelopmental disorders and cancers.
Dec 6, 2023
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New study concludes finding cure for malaria may be even more challenging than thought
Researchers who have studied malaria for decades, hoping to find a cure, long thought they'd identified a type of blood that seemed to defend against the disease.
Dec 6, 2023
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Cell-type-specific genetic risk contributes to distinct stages of Alzheimer's disease progression, finds study
Developing treatments for Alzheimer's disease (AD) is difficult because complex underlying mechanisms drive different types of cells that may contribute to the disorder. Microglia and astrocytes, resident immune and support ...
Dec 5, 2023
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Scientists shed light on mysteries associated with infertility
Scientists attacking the problem of high miscarriage rates have long wondered if there is a way to tell whether an egg cell will successfully develop into an embryo and grow or if there is a marker indicating when it is destined ...
Dec 5, 2023
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Protein implicated in tumor growth found to be heavily associated with pancreatic cancer
When Nancy Klauber-DeMore, M.D., began studying secreted frizzled-related protein 2, or SFRP2, it was as a breast cancer researcher and surgeon. Since she first showed in 2008 that the protein is involved in tumor growth ...
Dec 5, 2023
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Hard to drug: Protein droplets reveal new ways to inhibit transcription factors in an aggressive form of prostate cancer
Transcription factors play essential roles in turning the genetic information encoded in genes into proteins in all cells and organisms. These regulatory proteins bind DNA, turn genes on or off, and control the rate at which ...
Dec 4, 2023
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Study shows leukemia cells activate cellular recycling program
In a recent study, scientists led by Professor Stefan Müller from Goethe University's Institute of Biochemistry II investigated a specific form of blood cancer known as acute myeloid leukemia, or AML. The disease mainly ...
Dec 4, 2023
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