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A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

A new mouse model capable of displaying the early symptoms of familial amyloid polyneuropathy may help researchers understand mechanisms underlying the disease and test therapies that focus on its initial stages. The Taiwanese team that created the model wrote about it in the journal Neuropathology and Applied Neurobiology. The…

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

Changes in the way that people with a certain gene mutation walk could help doctors make an early determination that they have a neurodegenerative condition known as familial amyloid polyneuropathy, a study reports. A TTR mutation is a hallmark of transthyretin familial amyloid polyneuropathy, one of a number of versions of familial amyloid polyneuropathy. The…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Japanese experts have developed guidelines for treating people in their country with transthyretin familial amyloid polyneuropathy that are different from other countries’ guidelines. That’s because TTR-FAP manifests itself differently in Japanese than in people elsewhere. It has a broader range of symptoms in Japanese patients, for example. The guidelines are…

While Vyndaqel (tafamidis) has been shown to improve symptoms of familial amyloid polyneuropathy (FAP), it likely does not protect against anemia — a common problem among patients with the disease, a small Japanese study found. The data suggests that physicians may need to pay attention not only to patients’ neurological…

Alnylam Pharmaceuticals and Sanofi have dissolved the partnership they formed to develop and market two treatments for the neurological disease familial amyloid polyneuropathy, or FAP. The change is aimed at streamlining the development of patisiran and ALN-TTRsc02, Alnylam said in a press release. The two drugs are RNAi treatments. This means…

The U.S. Food and Drug Administration (FDA) has agreed to speedily review Ionis Pharmaceuticals’ application to get  its investigational drug inotersen approved as a treatment for hereditary TTR amyloidosis (hATTR). The application has been granted Priority Review status, shortening the review process from 10 to six months. The FDA…

The artificial induction of joint ossification, or surgical arthrodesis, is a safe and effective option to treat patients with rare knee structural deformities due to Charcot neuroarthropathy secondary to familial amyloid polyneuropathy (FAP), according to a case report. FAP represents a heterogeneous group of hereditary diseases caused by…