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August 13, 2019August 13, 2019

Tegsedi and Onpattro Effectively Stop FAP Progression, Improve Quality of Life, Review Suggests

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Tegsedi (inotersen) and Onpattro (patisiran) are both effective treatments to stop the progression of familial amyloid polyneuropathy (FAP), alleviate gastrointestinal symptoms, and improve patients’ overall quality of life, a review ... Read more

August 6, 2019August 6, 2019

Ala97Ser Most Common Mutation Among Chinese-Malaysians With FAP, Study Says

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The Ala97Ser mutation is the most common variant found on the TTR gene that has been associated with familial amyloid polyneuropathy (FAP) in Chinese-Malaysian patients, a study says. The ... Read more

August 1, 2019

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

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Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state ... Read more

August 1, 2019

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

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Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage ... Read more

July 30, 2019July 30, 2019

Early FAP Diagnosis Possible with Specific Sensory, Heart Rate and Conductance Tests, Study Says

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Measuring thresholds of cold detection, heart rate variability, and the skin’s electrical conductance may allow for earlier diagnosis of familial amyloid polyneuropathy (FAP), according to new research. The study, ... Read more

July 23, 2019July 23, 2019

hATTR Compass, Free Genetic Testing and Counseling Program, Expanding

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Ambry Genetics and Akcea Therapeutics, an affiliate of Ionis Pharmaceuticals, are expanding a free genetic testing and counseling program called hATTR Compass. hATTR Compass is a no-cost program for ... Read more

July 19, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of ... Read more

July 17, 2019July 17, 2019

Risk of FAP Prompts Most Pre-symptomatic Neurological Testing, Portuguese Study Says

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Persons at risk for familial amyloid polyneuropathy (FAP) represent the vast majority of those who undergo pre-symptomatic testing for late-onset neurological diseases (LONDs) in Portugal, according to a 20-year ... Read more

July 9, 2019July 16, 2019

Long-term Efficacy of Vyndaqel in FAP Patients with Val30Met Mutations Supported in Study

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Therapy with Vyndaqel (tafamidis) nearly stops or slows the progression of familial amyloid polyneuropathy (FAP) in most patients with Val30Met mutations at the transthyretin (TTR) gene, a long-term follow-up ... Read more

July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although ... Read more

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