herenciageneticayenfermedad: Rare Diseases

martes, 26 de junio de 2018

Rare Diseases - Jun 26, 2018 Edition

Health News and Information - News Medical

	June 26, 2018
	Rare Diseases
	The latest rare diseases news from News Medical

How to be a Science Journalist with James Randerson

Learn how to make an impact as a science writer or blogger at this class with James Randerson, former assistant national news editor at the Guardian. From climate change and superbugs to asteroid strikes, many of the most important and exciting stories of our era come from the world of science. This evening course with former assistant national news editor for the Guardian, James Randerson, is the perfect primer for anyone interested in science journalism or communication.

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Familial Chylomicronemia Syndrome: How HCP’s can Support Patients with Rare Diseases

FCS is a rare syndrome. There are a number of potential causes, but the most common is associated with a lack of an enzyme (protein) called lipoprotein lipase. This protein helps release fatty acids from a large structure called the chylomicron, that circulates in the blood after being formed after fat is taken up from the intestine.

New therapeutic approach may delay neurodegeneration in rare genetic disease

A new therapeutic approach may one day delay neurodegeneration typical of a disease called mucopolysaccharidoses IIIB. Neurodegeneration in this condition results from the abnormal accumulation of essential cellular molecules called mucopolysaccharides.

	Magnesium intake positively associated with bone density Intake of magnesium through diet and supplements is positively associated with bone density throughout the whole body, particularly in older white adults, according to research published in the Journal of the American Geriatrics Society.

	Synthetic gene reveals potential therapeutic target for rare, inherited disease DNA Repair is essential for a healthy organism. In every day of our lives, tens of thousands of damages occur in the genetic material of our cells. Hence, it is not surprising that a broad variety of repair mechanisms developed in the course of evolution that enables cells to quickly react and patch up the affected DNA strands.

	Coconut oil diet increases vitality, lifespan of fruit flies with peroxisomal disorder "Lorenzo's Oil" was to help a seriously ill boy suffering from a peroxisomal disorder (adrenoleukodystrophy/ALD). The true story was turned into a film which made the rare disease well known.

	UT Southwestern scientists identify gene mutation linked with perplexing brain condition Scientists conducting one of the largest full DNA analyses of a rare disease have identified a gene mutation associated with a perplexing brain condition that blinds and paralyzes patients.