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Clinical genetics news
Key genetic differences between pediatric and adult forms of immune-mediated inflammatory diseases identified
Researchers from Children's Hospital of Philadelphia (CHOP) have found that pediatric-onset rheumatic and inflammatory diseases have distinct genetic architecture compared with those in adults. The findings, published today ...
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Machine learning approach could bring greater certainty to prenatal genetic testing
Advances in genome sequencing are giving more families access to prenatal genetic testing and new information about an unborn baby's health, including whether genetic changes may be linked to a neurodevelopmental condition.
5 hours ago
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Computational framework identifies novel pathway for asthma inflammation
Researchers at Columbia University Mailman School of Public Health, in collaboration with investigators at the University of Chicago, have developed a new computational framework that helps scientists identify genes that ...
22 hours ago
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Long before adulthood, a chemical mark may quietly shape how the brain handles stress
Stress or trauma during childhood may leave people more vulnerable to mental health struggles and stress later in life. Scientists think one reason could be that early-life stress leaves lasting molecular bookmarks on DNA, ...
Genetic variants shed light on kidney transplant rejection
Immunosuppressive medications help prevent organ rejection following transplantation, yet some patients still experience rejection despite receiving adequate treatment. New research from Yale, published in the Journal of ...
Aug 11, 2026
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Heart assembloids give researchers a new way to study heart valve disorders
A multidisciplinary, multi-institution group of researchers focused their expertise in genetics, mechanics, chemistry and biology on a chip the size of a postage stamp to model a particular class of heart conditions.
Aug 11, 2026
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Solving a mysterious inflammatory fever opens the book on a much bigger story
Three research teams working independently around the world have landed on the same discovery: A single molecular "handshake" inside our cells controls a family of inflammatory diseases, including one of the most common inherited ...
Aug 10, 2026
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Molecular structures provide roadmap for targeted Parkinson's disease therapeutics
Researchers at Weill Cornell Medicine have uncovered how a key Parkinson's protein called LRRK2 shifts between inactive and active forms, revealing the structural changes that enable certain mutations to push the protein ...
Aug 10, 2026
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Broccoli could treat untreatable rare nerve disease, research finds
The secret ingredient for treating a rare nervous system disease could be hiding in the fridge, Swinburne researchers have discovered.
Aug 10, 2026
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Telomere-to-telomere brown rat genome could sharpen disease research models
Researchers have created the most complete genetic profile of the brown rat to date, according to a UTHealth Houston-led team, paving the way for scientists to more accurately investigate genetic links to conditions like ...
Aug 8, 2026
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Why the body's inflammatory alarm misfires in familial Mediterranean fever
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease in which the body's own immune system overreacts to minimal or inappropriate stimuli, producing recurrent attacks of fever and painful inflammation. ...
Aug 7, 2026
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From growth to function: Gene helps human heart cells decide when to mature
Understanding how heart muscle cells stop dividing and acquire the characteristics needed to sustain lifelong cardiac function remains one of the greatest challenges in cardiovascular biology. Leveraging human induced pluripotent ...
Aug 7, 2026
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Finding new osteoarthritis medicines via AI and genetics
Osteoarthritis (OA) is a chronic, painful joint disease and a leading cause of disability. Despite its prevalence, therapies for osteoarthritis are limited and focus on symptom management. Now, researchers are combining genetic ...
Aug 6, 2026
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Map of tonsil's genetic 'spaghetti' yields insights into immunity
About 2 meters (6.6 feet) of genetic material must fit into the nucleus of each of most of our trillions of cells, coiling and winding to form what looks like a tangled mess. But when genes are used, how they are used and ...
Aug 6, 2026
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Human genome milestone opens door for personalized genomics
Scientists have reconstructed the complete genome of a real person, with full sets of chromosomes from each parent, a breakthrough expected to advance research, improve the diagnosis of genetic diseases and make personalized ...
Aug 6, 2026
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First complete marmoset genome will enable research on Alzheimer's and neurodegenerative diseases
To study complex diseases like Alzheimer's, scientists and clinicians analyze how genes change and malfunction in other species. Marmosets, a species of tiny monkey from South America, have become an important animal model ...
Aug 6, 2026
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Gene mutations behind serious bone marrow conditions identified
Inherited bone marrow failure syndrome, or IBMFS, describes a group of disorders in which inherited genetic abnormalities impair the bone marrow's ability to produce sufficient healthy blood cells. Patients with these disorders ...
Aug 6, 2026
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Hidden DNA regulators may drive neurodevelopmental disorders by reducing FOXG1 protein
A new study from the laboratory of Gemma Carvill, Ph.D., associate professor in the Ken and Ruth Davee Department of Neurology's Division of Epilepsy and Clinical Neurophysiology, has uncovered variants in noncoding regulatory ...
Aug 6, 2026
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Testing is underway on vaccines to intercept brewing colon cancer before it takes root
Dr. Stacy Norton was only 7 years old when her mother died of colon cancer, one of several family members struck by aggressive tumors at unusually young ages. Decades later, Norton rolled up her sleeve to help test if a new ...
Aug 6, 2026
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New biobank of tumor models reveals cancers' weak spots
A new open resource of cancer models has enabled researchers to create the first large-scale map of the genes that cancers rely on to survive, offering new avenues for research into better and less toxic treatments for patients.
Aug 5, 2026
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Regular checks sustain high participation for children with inherited cancer risk
Children born with a pathogenic variant in the TP53 gene, known as Li-Fraumeni syndrome, have a markedly increased risk of developing various types of cancer, often at a young age. Therefore, they undergo regular surveillance ...
Aug 5, 2026
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New insights into the evolution of a gene linked to neurodevelopmental conditions
Certain variants in the PSPH gene, which encodes an enzyme called phosphoserine phosphatase, prevent the body from making sufficient amounts of the amino acid L-serine, leading to a range of nervous system problems. New research ...
Aug 5, 2026
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3D genome mapping in rare immune cells reveals new Crohn's disease genes
A new study co-led by professor Valeriya Malysheva, group leader at the VIB-UAntwerp Center for Molecular Neurology, published in Nature Genetics, uncovers how the three-dimensional organization of DNA in rare immune cells ...
Aug 4, 2026
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Evolutionary history may help explain why some people develop more severe COVID-19 than others
Every time a virus invades a person, it collides with thousands of years of human history. A study led by researchers at the USC Dornsife College of Letters, Arts and Sciences and Howard University suggests that some of the ...
Aug 4, 2026
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Researchers uncover hidden mechanism behind congenital heart disease
Congenital heart disease affects approximately two in every 100 newborns globally. But why does it occur? An important part of the answer may lie in a previously unknown mechanism on the surface of our cells. Researchers ...
Aug 4, 2026
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