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Invitae, Alnylam to Provide Free Genetic Testing for Rare Amyloidosis Condition

NEW YORK (GenomeWeb) – Invitae and Alnylam Pharmaceuticals have together launched a free genetic testing service called Alnylam Act to encourage early testing and diagnosis for hereditary ATTR amyloidosis.

Through this program, funded by Alnylam, Invitae will perform free testing using one of its comprehensive gene panels for cardiomyopathy, neuropathy, or amyloidosis. Patients eligible for free testing are those in the US who are suspected to have the disease or a family history of it.

Hereditary ATTR is a progressive and life-threatening rare illness caused by a mutation in the TTR gene, which leads to misfolded proteins that accumulate in amyloid fibrils in nerves, the heart, and other organs. The most common form of hATTR amyloidosis occurs in 10,000 people around the world, and can cause neuropathy, cardiomyopathy, and other life-threatening conditions that can start to manifest in people as young as 20 years old.

From the time the symptoms show up, patients can live between five years and 15 years. If patients are accurately diagnosed early, they can receive better treatment and perhaps join clinical trials. Alnylam is developing RNAi drugs for hATTR polyneuropathy and cardiomyopathy.

"Particularly for rare progressive diseases such as hATTR amyloidosis, early and accurate diagnosis is essential when making choices for managing the disease," Robert Nussbaum, Invitae's chief medical officer, said in a statement. "We strongly believe that genetic testing has the ability to accelerate the diagnostic process, and an early diagnosis has the power to change medical outcomes."

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