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Clinical genetics news
Cerebral palsy might be a collection of symptoms, not its own disease
Historically, cerebral palsy (CP) was linked largely to events at birth, including prematurity or temporary loss of oxygen to the brain, but research over the past decade has suggested that genetic factors contribute to CP ...
49 minutes ago
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How severe illness during pregnancy sometimes alters neurodevelopment
Neurodevelopmental conditions, which include autism spectrum disorder, ADHD (attention-deficit/hyperactivity disorder) and more, affect around 10% of the American population. Despite their prevalence, it has remained difficult ...
2 hours ago
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Five subtypes of common liver disease discovered—including rapidly progressing genetic forms
A liver disease affecting nearly 30% of adults worldwide is not a single illness but five biologically distinct subtypes, Mayo Clinic researchers have found. Each carries different risks for heart disease, liver failure, ...
2 hours ago
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New disease gene discovery provides answers to families
Ōtākou Whakaihu Waka researchers have helped identify the cause of a previously unrecognized neurodevelopmental disorder. Dr. Meghan Mulligan, of the Department of Biochemistry, says the finding has given people around the ...
4 hours ago
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Alpha-1 antitrypsin deficiency may raise preterm birth risk, genetic analysis suggests
Researchers at the University of Oulu have identified alpha-1 antitrypsin as a potential target for preventing spontaneous preterm birth. In a large genetic study of more than 200,000 mothers, a variant in the SERPINA1 gene, ...
1 hour ago
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Family cancer burden predicts risk in patients with inflammatory bowel disease
People with inflammatory bowel disease (IBD) who have several close relatives with colorectal cancer are significantly more likely to develop the disease themselves. This is demonstrated by a new Swedish registry study from ...
9 hours ago
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Genetic pathway offers new insight into timing of early brain development
Melbourne researchers have uncovered a critical signaling pathway that controls the timing of brain development, shedding new light on how neurodevelopmental disorders may develop. The research, led by Murdoch Children's ...
19 hours ago
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Powerful new tool reveals potential 'goldmine' of cancer targets hidden in 'junk DNA'
A QIMR Berghofer-led team has developed a powerful tool to explore and understand the mysterious workings of the vast region of the human genome once dismissed as "junk DNA," discovering thousands of molecules that could ...
21 hours ago
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Neuropsychologist finds gaps between treatment and science of ALS, dementia in her own family
For A. Campbell Sullivan, PsyD, this time it's personal. As a neuropsychologist and clinical associate professor of neurology at the Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases at UT Health San Antonio, ...
22 hours ago
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New class of KRAS inhibitors shows promise in shrinking NF1 nerve tumors
A scientist at Cincinnati Children's who has hunted for decades for ways to shrink the painful and disfiguring nerve tumors caused by neurofibromatosis type 1 (NF1) has made a new breakthrough in the quest. Nancy Ratner, ...
21 hours ago
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Genetics of personality may shape more life outcomes than previously thought
An international consortium of researchers found that more than 1,200 different genetic variants are associated with the Big Five personality traits—and, surprisingly, these personality genetics are linked to dozens of life ...
Sep 2, 2026
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Dozens of genes tied to OCD and tic disorders discovered
A Rutgers-led international collaboration has identified 36 genes that substantially raise the risk of obsessive-compulsive disorder (OCD) and chronic tic disorders—providing, two researchers said, the most detailed biological ...
Sep 1, 2026
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Targeting protein synthesis control regions may reduce seizures in genetic epilepsy
Targeting the control of protein synthesis in the KCNQ2 gene may serve as a potential disease-modifying strategy for patients with a genetic form of neonatal-onset epilepsy and impaired brain development, according to a Northwestern ...
Aug 31, 2026
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Scientists identify genes that could reduce APOE4 Alzheimer's disease risk
An international team of researchers led by Michael E. Belloy, Ph.D., an assistant professor of neurology and psychiatry at WashU Medicine, identified key genetic targets for developing potential Alzheimer's disease therapeutics. ...
Aug 31, 2026
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Poor diet may worsen genetic causes of male infertility, study finds
Lifestyle factors can worsen the effects of genetic causes of male infertility, finds new research that could help explain why men carrying similar genetic mutations often experience different levels of fertility impairment.
Aug 31, 2026
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Clues to longevity may reside in the genomes of long-lived bats
The secret to a long life may lie in the genomes of the longest-lived mammals for their size: bats. That idea captivated Juan Manuel Vazquez when he was a graduate student at the University of Chicago, but at the time he ...
Aug 30, 2026
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Next-generation RNA approach provides hope for genetic diseases missed by current drugs
Researchers at the University of Toronto have developed a next-generation RNA therapeutic approach with the potential to treat a wide range of genetic diseases that share certain disease-causing mutations. The work advances ...
Aug 27, 2026
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Largest ever molecular map of autism opens new paths to precision therapies
For more than two decades, researchers have identified hundreds of genes that increase the risk of autism spectrum disorder (ASD). Yet multiple fundamental questions have remained unanswered: Among them, how do mutations ...
Aug 27, 2026
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Unexpected discovery reveals mechanism behind brain tumor development
When researchers at Lund University investigated how UM171, a molecule used to make blood stem cells multiply, works, they made an unexpected connection. The results provide new insights into how one of the most common malignant ...
Aug 27, 2026
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More accurate risk assessment developed for Alzheimer's disease among nonwhite patients
Late-onset Alzheimer's disease (AD) is a progressive disorder characterized by cognitive decline and memory impairment, affecting an estimated 6.9 million people in the U.S. The clinical course of AD unfolds over many years, ...
Aug 27, 2026
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Primate-specific DNA change reveals a new link to dementia-related neurodegeneration
Brain diseases, including dementia, have long been studied using experimental animals such as mice. However, differences between the human and animal genomes have raised concerns that some disease mechanisms may not be fully ...
Aug 27, 2026
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Children of centenarians often live longer and face lower cardiovascular risks, analysis finds
Adults with at least one parent who reached age 100 lived longer and had substantially lower risks of cardiovascular disease and hypertension than people whose parents had shorter lifespans, according to a study published ...
Aug 26, 2026
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Stress gene 'stuck on' in the brains of people with schizophrenia, study finds
Experts at the University of Sydney have found that a gene involved in regulating the body's response to stress switches on more easily in the brains of people who live with schizophrenia.
Aug 26, 2026
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People say they would not want to test embryos for traits like low IQ. But if given the information, they act on it
A study of more than 2,000 people in the United States and China finds that the line between medical and nonmedical traits, which underpins rules on embryo testing in most countries, does not match public preferences.
Aug 26, 2026
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Inherited genetic variants help identify patients at higher risk of aggressive therapy-related blood cancers
Some patients develop aggressive blood cancers years after receiving chemotherapy or radiotherapy for a previous cancer. These conditions, known as therapy-related myeloid neoplasms (t-MN), are currently classified mainly ...
Aug 26, 2026
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