Tegsedi (inotersen) continues to slow progression of familial amyloid polyneuropathy (FAP) and maintains the…
News
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare…
Narrowing of the spinal canal due to a buildup of proteins — transthyretin (TTR) amyloid deposits — was reported in a rare case of…
Variability in the onset and penetrance of TTR-related amyloidosis (ATTR) among members of the same family may be linked to the expression of different…
News
Vyndaqel Safe But Generally Ineffective at Delaying FAP Neuropathy in Long Term, Study Suggests
Long-term treatment with Vyndaqel (tafamidis) is safe and well-tolerated by patients with transthyretin familial amyloid…
Liver transplants can significantly prolong survival in familial amyloid polyneuropathy (FAP) patients, and the longer they must wait for the transplant may mean the disease…
A 60-year-old man with familial amyloid polyneuropathy (FAP), and quickly progressing nerve damage and heart disease, was found to carry a rare mutation in…
Although most patients with familial amyloid polyneuropathy (FAP) who undergo liver transplant will require a pacemaker, implanting the device before the transplant is not…
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and…
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