The rare disease discovered in a town where 'everyone's a cousin' - BBC 100 Women, BBC World Service скачать в хорошем качестве

The rare disease discovered in a town where 'everyone's a cousin' - BBC 100 Women, BBC World Service

The small town in Brazil where family ties led to a medical discovery of a mysterious disease that paralysed residents. Click here to subscribe to our channel 👉🏽 https://bbc.in/3VyyriM Silvana Santos still knows by heart the house and the name of each of the residents of Serrinha dos Pintos, Brazil, who lost the ability to walk in childhood. It was in this city of less than 5,000 inhabitants that the biologist and doctor in genetics discovered, studied and named a rare genetic disease previously unknown in the world: the Spoan Syndrome. Caused by a genetic mutation that can be traced back to the first settlers to explore this region of Brazil, the syndrome affects the nervous system and causes progressive stiffening and weakening of the legs and arms. In this video, reporters Vitor Tavares, Giulia Granchi and Mariana Castiñeiras talk to Silvana and residents of Serrinha dos Pintos, who explain how their lives changed after the disease was discovered. 00:00 Intro 01:17 The researcher arrives in Serrinha dos Pintos 03:25 The routine of the patients 04:48 The origins of the disease 06:03 "Everyone is a cousin" 09:26 The impacts of the discovery Silvana Santos was on the most recent list of influential women in the BBC's 100 Women series. You can see more videos like this on our playlist 👉🏽    • BBC 100 Women   ---------------- This is the official BBC World Service YouTube channel. If you like what we do, you can also find us here: Instagram 👉🏽   / bbcworldservice   Twitter 👉🏽   / bbcworldservice   Facebook 👉🏽   / bbcworldservice   BBC World Service website 👉🏽 https://www.bbc.co.uk/worldserviceradio Thanks for watching and subscribing! #BBCWorldService #WorldService #health #genetics #rarediseases #BBC100Women