Last update:
Clinical genetics news
Mutation map reveals how amylin mutations influence type 2 diabetes
Researchers at the Institute for Bioengineering of Catalonia (IBEC) have produced a mutational map showing how mutations in amylin—a hormone that plays a key role in glucose regulation—affect its tendency to form toxic amyloid ...
4 hours ago
0
0
Genetic code of growing bacterial threat identified using whole-genome sequencing
Scientists at Houston Methodist Research Institute have discovered that a fast-rising strep bacterium comes in more forms than expected, including ones that may lead to life-threatening infections. The study, led by James ...
4 hours ago
0
0
A new lens on autism's sex bias: How X chromosome 'escape' genes could shape risk
Autism has a significant and enduring sex bias, with roughly four boys diagnosed for every girl. For many years, experts have believed this disparity arises primarily from diagnostic inequities because much of autism research—and ...
16 hours ago
0
23
Newly discovered recessive neurodevelopmental disorder may be most prevalent ever
Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most prevalent ever discovered. ...
16 hours ago
0
15
Autism risk genes are shared across ancestries, research reveals
A new study, co-led by researchers at the Icahn School of Medicine at Mount Sinai and published March 30 in Nature Medicine, demonstrates that genes associated with autism risk are largely the same across people of different ...
16 hours ago
0
5
Precision medicine helps more patients receive a genetic diagnosis
A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. ...
10 hours ago
0
1
Changing the long search for rare disease diagnoses with new AI breakthrough
A newly developed AI tool can dramatically speed up the search for the genetic causes of rare diseases, a process that often takes years and frequently ends without answers. The tool analyzes how genes have evolved across ...
6 hours ago
0
0
Global review finds wide gaps in rules for polygenic embryo testing
A new global review shows that countries are taking very different approaches to regulating polygenic embryo testing. For more than four decades, in vitro fertilization (IVF) has helped families have children. Scientists ...
Mar 29, 2026
0
3
Are heart failure and atrial fibrillation the same disease? Study reveals shared genetic and molecular mechanics
New research from a multi-institutional team, published in Nature Cardiovascular Research, reveals that heart failure and atrial fibrillation share underlying genetic and molecular mechanisms, suggesting that the two cardiovascular ...
Mar 26, 2026
0
10
Study of 11,000 tumors maps 134 DNA damage signatures across 16 cancers
A team of cancer genomics scientists from The University of Manchester and The Institute of Cancer Research, London, forensically examined the genetic make-up of tumors in 16 different cancers. Their findings, which have ...
Mar 26, 2026
0
10
Designing global flu vaccines? Studies suggest common IGHD deletions may block key antibodies
Inherited variations in antibody genes can affect how we respond to infections and vaccines, show two new studies from Karolinska Institutet published in the journal Immunity. The researchers have mapped immune gene variation ...
Mar 26, 2026
0
6
Largest genomic study of kidney function in Africa reveals new genetic risk factors
An international research collaboration led by Queen Mary University of London and University of the Witwatersrand (Wits) in South Africa has published the most comprehensive genomic investigation of kidney function ever ...
Mar 26, 2026
0
4
For the first time, scientists have mapped the genetics of how the brain ages, region by region
A landmark research paper for the first time maps the genetics of how individual regions of the brain age—and why some of those regions are the very ones most ravaged by Alzheimer's and dementia. Published in the journal ...
Mar 26, 2026
0
17
Why do some viruses linger for life? A 900,000-person study maps viral loads
Some viruses that make us sick are cleared by the immune system within days, while others lurk in our bodies for a lifetime and reemerge later to cause new problems. How and why viral levels in the body change over time—and ...
Mar 25, 2026
0
25
High-resolution atlas of developing human brain combines data from nearly 200 studies and 30 million cells
In a bid to better understand, and potentially treat, a host of conditions that affect early cognition, neurodevelopment and the brain later in life, investigators at Johns Hopkins Medicine and colleagues throughout the world ...
Mar 25, 2026
0
11
Form of infant leukemia caused by NUTM1 gene rearrangements found to be highly treatable
Despite a host of checks and balances that usually prevent harmful genetic mutations, sometimes mistakes happen, with serious consequences. Now, researchers from Japan elucidate how a common mutation underlying a common childhood ...
Mar 25, 2026
0
3
Scientists discover new genetic disease that causes premature aging and cognitive deficits
Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have defined a new genetic disease marked by premature aging and deficits in brain function. The researchers have ...
Mar 24, 2026
0
19
Agent Orange linked to aggressive bone marrow cancer in Vietnam veterans
More than 50 years after Agent Orange was used in Vietnam, a new national study published in Blood Advances highlights the genetic changes that link exposure to Agent Orange to myelodysplastic syndromes (MDS), a group of ...
Mar 24, 2026
0
4
Online intervention helps cancer patients share genetic testing results with family
When a person with cancer finds out they carry an inherited genetic variant that puts them at higher risk of cancer, the results can help inform their treatment or steps to prevent additional cancer.
Mar 24, 2026
0
2
Mitochondrial capsule transplantation therapy shows potential for major diseases
Chinese researchers have developed a novel and highly efficient mitochondrial capsule transplantation therapy, achieving the safe and efficient transplantation of healthy mitochondria into cells and tissues for the first ...
Mar 23, 2026
0
41
Medical centers highlight responsible ways to share genetic disease risk information
As modern medicine leaps forward in its ability to quickly and more affordably run genetic disease risk tests, ethical questions have swirled about how best to inform people about risk findings they may have had no idea were ...
Mar 23, 2026
0
2
Genetic study finds links between height and risk of cardiovascular and reproductive conditions in East Asian people
A large-scale genetic analysis of East Asian individuals led by Fuu-Jen Tsai of the China Medical University Hospital, finds that people with greater height face a higher risk of endometriosis and atrial fibrillation. A person's ...
Mar 22, 2026
0
13
The epigenetics of trauma: 86 miRNAs linked to PTSD symptom severity and social adversity
Adverse childhood experiences and traumatic events experienced or witnessed at any point during one's lifetime can sometimes prompt the emergence of some mental health disorders, such as post-traumatic stress disorder (PTSD) ...
Genes tied to impulse control play a major role in addiction risk
Most of the genetic risk for developing a substance use disorder comes from genes that broadly affect how our brains process rewards, regulate impulses and weigh consequences—not from genes that specifically influence substance ...
Mar 20, 2026
0
9
