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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]