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February 27, 2020February 27, 2020

Advice on Starting Nonprofit Groups for Rare and Other Diseases Focus of NORD Webinar

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Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those looking to begin the complex process in its Feb. ... Read more

February 25, 2020February 25, 2020

European Comission Approves Vyndaqel for Treating Cardiomyopathy in Adults with Transthyretin Amyloidosis

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The European Commission (EC) has approved the once-daily oral medication Vyndaqel (tafamidis) for the treatment of cardiomyopathy — a disease of the heart muscle that makes it harder for ... Read more

February 20, 2020March 3, 2020

Patients, Supporters Worldwide Recognizing Rare Disease Day 2020

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An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and ... Read more

February 18, 2020February 18, 2020

FAP V122I Mutation Associated with Heart Failure in African, Hispanic People, Study Finds

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The V122I gene mutation, found primarily in people of African descent with hereditary transthyretin amyloidosis (ATTR), is associated with heart failure in individuals of African or Hispanic/Latino descent, a ... Read more

February 11, 2020February 11, 2020

FDA Efforts to Bring Patients into Treatment Decisions Focus of NORD Webinar

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The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous ... Read more

February 11, 2020February 11, 2020

Nuclear Medicine Imaging Can be Used to Distinguish Amyloidosis Subtypes, Study Says

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A nuclear imaging technique called 99mTc-DPD scintigraphy can be used to distinguish different subtypes of amyloidosis, including familial amyloid polyneuropathy (FAP), according to a new study. The study, “99mTc-DPD ... Read more

February 5, 2020February 5, 2020

With Post-Brexit Move to Amsterdam Complete, EMA Renews Rare Disease Focus

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The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over ... Read more

February 4, 2020February 4, 2020

Cathepsin E Implicated in Immune Dysfunction in FAP, May Be Biomarker, Mouse Study Suggests

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The protein cathepsin E — known for regulating immune system cells — may be a potential biomarker for familial amyloid polyneuropathy (FAP), a study suggests. Specifically, researchers found that ... Read more

January 28, 2020January 28, 2020

Review Details Recommendations to Improve FAP Diagnosis

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Diagnosing hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy, also called familial amyloid polyneuropathy (FAP), is challenging, particularly in in places where the disease is less prevalent, researchers say. A ... Read more

January 21, 2020January 21, 2020

Eye Disease Common in FAP Patients with Ser77Tyr Mutation, May Serve as Biomarker, Research Suggests

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People with a type of FAP caused by a Ser77Tyr mutation are more likely to develop conjunctival lymphangiectasia, an uncommon clinical condition characterized by swelling of the conjunctiva — ... Read more

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