Stories about: genetic testing

Better diagnostic testing for newborns with galactosemia

Babies with galactosemia cannot properly break down the sugar galactose.

For babies born with galactosemia, the simple act of feeding can be deadly. In this rare inherited disease, infants are deficient in an enzyme known as GALT, leaving them unable to metabolize galactose, a sugary byproduct of lactose found in milk and other dairy foods. Instead, galactose builds up and wreaks havoc. If the condition isn’t caught at birth and treated with a lactose-free diet, infants can develop cataracts, brain swelling and organ failure and die within the first few weeks of life.

However, some babies do have enough enzyme to keep the levels of this sugar down, and have a much milder ”variant” form of the disease. The trouble is, the existing newborn screening test cannot always distinguish these children from those with the more severe form of the disease. 

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The battle over “gene patents”: ACLU v. Myriad Genetics

Will complacency allow patent protections to come apart?

The merits of “gene patents” – patents directed to DNA sequences including disease-associated mutations — have been debated for years: Do they stifle genetic research, or promote it? Are gene patents essential for the commercialization of genetic testing? Do they raise the cost of medical care?  As a patent attorney with a focus in the life sciences, I find that these questions are being raised more frequently now. Why? What’s happened? In a word, ACLU v. Myriad Genetics.

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