Mouse embryos with the human enzyme CYP2C19 in the brain develop a smaller hippocampus and anxiety-like behaviour as adults. The results of this new study, which is published in the journal Molecular Psychiatry, agree in ...
Jul 24, 2013
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A special type of in vitro fertilization, or IVF, may increase the risk for insulin resistance among children conceived in this way, according to a new study from Greece. The results will be presented Monday at The Endocrine ...
Jun 17, 2013
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Meeting a young patient with Zellweger syndrome, a rare, life-threatening genetic disease, started a scientific investigation that culminated with an unexpected discovery. The condition, also known as peroxisomal biogenesis ...
Jun 22, 2017
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A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease, according to researchers in the Perelman School of ...
Aug 7, 2017
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Four years ago, Janelly Martinez-Amador was confined to a bed, unable to move even an arm or lift her head. At age 3, the fragile toddler had the gross motor skills of a newborn and a ventilator kept her alive.
Apr 24, 2013
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New research will help health-care practitioners more accurately diagnose illness in newborn babies from urine samples by comparing them with samples from healthy babies.
Jun 16, 2020
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U.S. health officials on Tuesday approved the nation's first gene therapy for an inherited disease, a treatment that improves the sight of patients with a rare form of blindness. It marks another major advance for the emerging ...
Dec 19, 2017
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While it is well known that there is a strong genetic basis to both diabetes and obesity, and that they are linked, Australian researchers say that there are many rare genetic variants involved, which will pose a significant ...
Aug 7, 2013
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By studying mutations in yeast and human cells, Johns Hopkins Medicine scientists say they have found that biochemical bonds between fats and proteins in the mitochondrion, the cell's powerhouse, play a crucial role in how ...
Jun 7, 2024
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"Childhood" and "dementia" are two words we wish we didn't have to use together. But sadly, around 1,400 Australian children and young people live with currently untreatable childhood dementia.
Apr 26, 2024
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