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Previously unknown genetic causes of three rare conditions discovered

Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness.

20 Mar 2023

Researchers discover previously unknown genetic causes of three rare conditions

17 Mar 2023

Researchers tease apart the molecular components involved in abdominal aneurysms

When the artery that supplies the stomach and the liver forms a bulge that ruptures, this medical emergency results in the deaths of 50 percent of patients before they reach the hospital.

24 Feb 2023

Study finds novel genes linked to fibromuscular dysplasia using genetic meta-analysis

Recent research identified that three novel genetic variants that control gene expression in the arteries are linked to fibromuscular dysplasia (FMD)—an arterial disease that induces threatening impacts for the heart and vessels.

19 Oct 2021

New method can enable early detection and treatment of cerebral aneurysms

Cerebral aneurysms are malformations caused by abnormalities on the walls of blood vessels in the brain. When these blood vessels rupture, about 30% of the sufferers die on the spot, giving these the rightful label of 'ticking bombs in the head'.

11 May 2021

Study shows two phases of wall restructuring after an aneurysm forms

Hitting a pothole on the road in just the wrong way might create a bulge on the tire, a weakened spot that will almost certainly lead to an eventual flat tire. But what if that tire could immediately begin reknitting its rubber, reinforcing the bulge and preventing it from bursting?

27 Jan 2021

Excess alcohol consumption can increase risk of stroke, peripheral artery disease

Higher alcohol consumption was shown to be associated with an increased risk of having a stroke or developing peripheral artery disease, according to new research published today in Circulation: Genomic and Precision Medicine, an American Heart Association journal.

5 May 2020