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Death of Professor Annie Barois, medical expert and pioneer of the SMA

Annie Barois died on 30 January in her 95th year. She was a university professor, pediatrician and intensive care specialist and former head of the intensive care unit at Garches Hospital. Her whole life was devoted to others, and in particular to children suffering from neuromuscular diseases. Sick children were a big part of her … [Read more]

Treatments and diagnosis for rare diseases: crucial issues

The availability of treatments and the end of diagnostic delays are major challenges for people with rare diseases. AFM-Telethon and the actors of the Rare Disease Platform are mobilising and calling on the public authorities to demand a 4th french National Plan for Rare Diseases that takes these issues into account. Despite the real progress … [Read more]

Rare diseases: AFM-Telethon calls for the creation of a public fund to ensure access to treatment

To mark International Rare Disease Day on 28 February, AFM-Telethon is advocating for the creation of a public intervention and innovation fund in France for the treatment of ultra-rare diseases with no prospect of commercial profitability. The aim: to guarantee access to treatment for all. 95% of rare diseases have no treatment. And while innovative … [Read more]

Three years of newborn screening for SMA in New York

A study of newborn screening in New York City was conducted between October 2018, when the state added SMA to its panel of diseases routinely screened at birth, and September 2021. During those three years: 34 newborns were diagnosed out of 650,000 tested (about a 1-in-19,000 frequency) at 9 New York State centers, including 1 … [Read more]

An online survey of genetic information in relatives

As part of the IGP rare project, which emanates from a collective bringing together health professionals, researchers and patient associations, an online survey was launched in February 2022 to collect the experience of people with a genetic disease and who had to inform their family members of the risk of transmission. The questionnaire (in french) … [Read more]

First-ever United Nations resolution to increase visibility for persons living with a rare disease and their families

On 16 December 2021, the UN adopted the first-ever UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families.” A huge recognition for families with rare diseases. The resolution increases visibility for the 300 millions people living with a rare disease and their families. This milestone is the outcome … [Read more]