Scientist Jonathan Wall, PhD, has won a $1.79-million grant to develop a potential treatment for amyloidosis, a group of conditions that includes familial amyloid polyneuropathy (FAP). The grant, from the National Institute of Diabetes and Digestive and Kidney Diseases, will fund a research project, titled “Developing a Theranostic…
Ionis Pharmaceuticals has launched a new grant program to fund novice researchers investigating transthyretin (ATTR) amyloidosis, a group of conditions that includes familial amyloid polyneuropathy (FAP), also known as hereditary ATTR. “We are proud to establish the Janice Wiesman Young Investigator Grant program, an important initiative to…
Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…
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,”…