Most rare diseases are congenital—including CPAM (congenital pulmonary airway malformations). These are airway malformations of the lungs that can lead to severe breathing problems in some affected newborns and can be associated ...
Apr 16, 2024
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Inside the brains of people with psychosis, two key systems are malfunctioning: a "filter" that directs attention toward important external events and internal thoughts, and a "predictor" composed of pathways that anticipate ...
Apr 11, 2024
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Genetic studies of diseases map segments of the genome driving disease. But to understand how those changes contribute to disease progression, it is important to understand how they may alter gene regulation of disease genes ...
Apr 9, 2024
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A drug used to treat certain bone diseases shows promise for slowing the progression of a rare, painful genetic condition that causes excessive calcium buildup in the arteries, known as arterial calcification due to deficiency ...
Apr 3, 2024
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Behind the term ectodermal dysplasia lies a wide range of genetic disorders that can have a major impact on patients' lives and quality of life. Some cannot sweat, others are born with missing or cone-shaped teeth, while ...
Apr 2, 2024
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Expectations for data sharing among scientists and returning research results to study subjects have evolved in recent years. A new study led by a Georgia State University researcher underscores potential barriers to sharing ...
Apr 2, 2024
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A new study—the largest of its kind globally—has found children with multiple sclerosis (MS) have better outcomes if treated early and with the same high-efficacy therapies as adults. The findings were published in Lancet ...
Mar 25, 2024
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The U.S. Food and Drug Administration has approved Orchard Therapeutics' Lenmeldy (atidarsagene autotemcel) as the first gene therapy for the treatment of children with metachromatic leukodystrophy (MLD).
Mar 25, 2024
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Patients with lung disease are more likely to develop heart disease independent of any risk factors, according to new research.
Mar 22, 2024
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Focusing on rare conditions could significantly reduce the burden of kidney disease on both patients and the NHS, according to a major new study led by UCL and the UK Kidney Association.
Mar 15, 2024
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