A rare genetic disease, known as Spoan syndrome, has been identified in a remote town in Brazil where nearly everyone is related. Biologist Silvana Santos discovered the condition, which affects the nervous system and causes progressive weakness, when she visited her neighbors in Serrinha dos Pintos over 20 years ago.
The town’s unique genetic makeup is due to its geographical isolation, resulting in high rates of cousin marriages. In contrast, global averages for cousin marriages range from less than 1% in some countries to around 10% in others.
Santos’s research marked a significant milestone in understanding the disease, as it was previously unknown anywhere in the world. Her team found that the mutation involves the loss of a small fragment of a chromosome, which causes a gene to overproduce a key protein in brain cells.
The condition affects nearly all patients by age 50, causing physical limitations and requiring full dependence on caregivers. However, advances in diagnosis and support have improved the lives of those affected.
Santos’s work also aims to educate couples about their genetic risks through a new research project that will screen 5,000 couples for genes linked to serious recessive diseases. Her efforts aim to empower families to make informed decisions about their relationships while promoting greater awareness about genetics and its impact on health.
Source: https://www.bbc.com/news/articles/ce80d4yppl3o