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Researchers solve an 80-year-old medical mystery that caused baby deaths
Researchers at the University of East Anglia have solved an 80-year-old medical mystery of the cause of kidney damage in... Read more
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What causes SIDS? Study suggests genetics may be at play in sudden infant death syndrome
The cause of sudden infant death syndrome, or SIDS, continues to be a medical mystery but a new study suggests... Read more
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Probing the genetics of autoimmune disease
There are many forms of autoimmune disease, but by definition they all have one thing in common—they arise when the... Read more
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Promising gene therapy delivers treatment directly to brain
When Rylae-Ann Poulin was a year old, she didn't crawl or babble like other kids her age. A rare genetic... Read more
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First-degree relatives have high perceived risk for rheumatoid arthritis
First-degree relatives (FDRs) of patients with rheumatoid arthritis (RA) have a high perceived risk for developing RA, according to a... Read more
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New study analyzes pigmentary traits and their relationship with diseases
Researchers from the GCAT'Genomes for Life project of the IGTP have analyzed the genetic basis of 13 pigment traits and... Read more
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Novel method facilitates genetic studies of the function and diseases of the intestinal epithelium
With a length of around eight meters and its countless finger-shaped protrusions, known as villi, the intestine represents the largest... Read more
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Structural insights reveal how SPOP protein contributes to cancer
SPOP is the most mutated protein in prostate cancer and plays a role in endometrial, uterine and other cancers. Despite... Read more
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Study reveals new genetic disorder that causes susceptibility to opportunistic infections
An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, Ph.D., has discovered a new genetic disorder that causes... Read more
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A geneticist studied one drop of his blood—and saw things he couldn't from a vial of blood
You could say Michael Snyder is obsessed with learning about the inner workings of his own body. The Stanford University... Read more
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KRAS mutation shown to promote tumor evasion of innate immune surveillance in lung cancer
KRAS is one of the most frequently activated oncogenes in human cancers. While the role of KRAS mutation in tumorigenesis... Read more
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Bowel cancer mutations that impact immunotherapy identified
A new library documenting hundreds of mutations can help to explain why some cancers don't respond to immunotherapies, and highlights... Read more
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Protective mutation shown to impair esophagus tumor growth
A protective mutation found in most cells in the human esophagus reduces tumor growth in mice, potentially highlighting new ways... Read more
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Researchers identify genes that cause rare hidden cancer
Several genes that cause sarcoma have been identified in the first comprehensive genetic map of sarcomas, generated by research led... Read more
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2022 ICC recategorization facilitates risk stratification of myelodysplastic syndrome
Clinical characteristics, outcomes, and genetic features vary among different myelodysplastic syndrome (MDS) subtypes categorized using the 2022 International Consensus Classification... Read more