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Genetics news
Oncology & Cancer
VCP/p97 as a therapeutic target in KRAS-mutant pancreatic cancer
A new research paper, titled "VCP/p97, a pleiotropic protein regulator of the DNA damage response and proteostasis, is a potential therapeutic target in KRAS-mutant pancreatic cancer," was published in Genes & Cancer on March ...
Mar 24, 2023
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Genetics
Too much pruning: A new study sheds light on how neurodegeneration occurs in the brain
Just like pruning a tree helps promote proper growth, the brain uses synaptic pruning to get rid of unnecessary connections between its cells. However, when this normal process, which occurs between early childhood and adulthood, ...
Mar 23, 2023
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Study finds eye color genes are critical for retinal health
Metabolic pathways consist of a series of biochemical reactions in cells that convert a starting component into other products. There is growing evidence that metabolic pathways coupled with external stress factors influence ...
Mar 23, 2023
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Artificial intelligence predicts genetics of cancerous brain tumors in under 90 seconds
Using artificial intelligence, researchers have discovered how to screen for genetic mutations in cancerous brain tumors in under 90 seconds—and possibly streamline the diagnosis and treatment of gliomas, a study suggests.
Mar 23, 2023
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Innovative surgical technique creates a nose for patients with 'extremely rare' genetic syndrome
Congenital arhinia (meaning patients born without a nose) is a rare condition associated with high mortality if not identified. As most babies when born are obligate nose breathers, the condition requires immediate attention. ...
Mar 23, 2023
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Why does a leukemic mutation not always lead to leukemia? A new clue from a mouse study
Why do some people with a genetic mutation associated with leukemia remain healthy, while others with the same mutation develop the blood cancer? In a new study published in Blood, scientists from the USC Stem Cell laboratory ...
Mar 23, 2023
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Ancient genomes reveal immunity adaptation in early farmers
Research from the Francis Crick Institute published today in Current Biology has revealed that diversity in genes coding for immunity may have facilitated adaptation to farming lifestyles in prehistoric periods.
Mar 23, 2023
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How misplaced DNA could influence disease risk
DNA is our body's instruction manual. It contains all the information that our cells need to make proteins and other molecules vital for our development, growth and survival.
Mar 23, 2023
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New insights into the origins of spinal muscular atrophy
Columbia researchers have discovered how a genetic defect leads to spinal muscular atrophy (SMA), a critical piece of information about the disease that neurologists have been seeking for decades.
Mar 22, 2023
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New study reveals shared genetic markers underlying substance use disorders
By combing through genomic data of over 1 million people, scientists have identified genes commonly inherited across addiction disorders, regardless of the substance being used. This dataset—one of the largest of its kind—may ...
Mar 22, 2023
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From mutation to arrhythmia: Desmosomal protein breakdown as an underlying mechanism of cardiac disease
Mutations in genes that form the desmosome are the most common cause of the cardiac disease arrhythmogenic cardiomyopathy (ACM), which affects one in 2,000 to 5,000 people worldwide. Researchers from the group of Eva van ...
Mar 22, 2023
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Ludwig von Beethoven's genome sheds light on chronic health problems and cause of death
In 1802, Ludwig van Beethoven asked his brothers to request that his doctor, J. A. Schmidt, describe his malady—his progressive hearing loss—to the world upon his death so that "as far as possible at least the world will ...
Mar 22, 2023
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Enabling adeno-associated virus gene therapy despite preexisting humoral immunity
The use of a monoclonal antibody that reduced circulating IgG levels, led to a decrease in preexisting neutralizing antibodies (NAbs) to adeno-associated virus (AAV). The study, which showed that this strategy enabled gene ...
Mar 22, 2023
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Scientists pave way for potential cure for severe kidney disease disproportionately affecting Black individuals
Today in the United States, about two out of every 1,000 people live with kidney failure. For every one white person who develops the disease, three Black people do. Kidney failure, also known as end-stage renal failure or ...
Mar 22, 2023
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What makes blood stem cells transform? Regulation of RNA splicing may be an answer
Researchers at Lund University Faculty of Medicine have determined a novel mechanism linking the metabolism of ribonucleic acids, RNA, to the development of leukemia in myelodysplastic syndrome (MDS) patients. In a study ...
Mar 21, 2023
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Researchers identify new genes that modulate the toxicity of the protein β-amyloid, responsible for causing Alzheimer's
An international study led by the Molecular Physiology Laboratory at the UPF Department of Medicine and Life Sciences (MELIS) identifies new genes that modulate the toxicity of the protein β-amyloid, responsible for causing ...
Mar 21, 2023
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New research shows strong heredity component to middle ear cholesteatoma
A nationwide Swedish study including more than 10,000 cases of cholesteatoma, a lesion in the middle ear, shows a strong hereditary component to the disease.
Mar 21, 2023
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Insights into causes of rare genetic immune disorders
The cellular glitches underlying a rare genetic disorder called activated PI3K Delta syndrome 2 (APDS2) have been identified by researchers at the Garvan Institute of Medical Research. The disorder is caused by genetic variations ...
Mar 21, 2023
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Age-related methylation changes in the human sperm epigenome
A new research paper titled "Age-related methylation changes in the human sperm epigenome" has been published in Aging.
Mar 21, 2023
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Study: Informational booklet improves family screening for inherited heart muscle disease
A booklet developed by cardiovascular and genetics experts and provided to patients with dilated cardiomyopathy (DCM) of unknown cause was effective in increasing screening of relatives at risk for the heart muscle disease, ...
Mar 21, 2023
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