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Intellia Therapeutics anticipates reporting interim data this year from a Phase 1 study evaluating the safety and activity profile of NTLA-2001, its investigational gene-editing therapy to treat hereditary transthyretin amyloidosis with polyneuropathy, also known as…

People living with hereditary transthyretin (hATTR) amyloidosis — which includes familial amyloid polyneuropathy (FAP) — report “profound” life changes due to their disease, particularly as it progresses and affects them physically, emotionally, and socially, a study based on patient interviews reported. These findings emphasize the need for better care…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

In focus groups, transthyretin (ATTR) amyloidosis patients and families reported challenges and concerns related to the odyssey of getting a diagnosis, the effect of symptoms on quality of life, and the familial impact of the rare inherited disease. The study, which included people with…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

The levels of blood GDF-15 could detect the development and progression of heart disease in people with hereditary transthyretin (ATTRv) amyloidosis, which includes familial amyloid polyneuropathy, a new study suggests. The study, “Plasma growth differentiation factor 15: a novel tool to detect early changes of hereditary transthyretin amyloidosis,”…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Investigating how plasma from people with transthyretin (ATTR) amyloidosis affects heart cells from rats may help researchers predict future heart-related health events and deaths in these patients, a study suggests. The findings were published in Clinical Research in Cardiology, in the study “Impaired in vitro growth response…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…