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First Post
13-05-2025
- Health
- First Post
'Everyone is a cousin': What is Spoan syndrome, the genetic disorder plaguing a Brazilian village?
For years, families in a small Brazilian town, Serrinha dos Pintos, watched their children slowly lose the ability to walk, and no one knew why. Thanks to biologist Silvana Santos and her research of 20 years, the village now has an answer: Spoan syndrome. The disorder manifests when a person inherits the same mutated gene from both parents read more A 2010 study led by Santos revealed that more than 30 per cent of couples in Serrinha were related by blood. And among those couples, one-third had at least one child living with a disability, according to the BBC. Image for Representation. Pixabay For years, families in a small Brazilian town watched their children slowly lose the ability to walk—and no one knew why. In Serrinha dos Pintos, tucked deep in the northeast of Brazil, kids would grow up like any others. But by the time they reached their teens, something began to change. Their legs weakened. Some others could barely move their arms. Families had no idea why it was happening. Generation after generation, the same heartbreaking pattern repeated itself with a growing sense of worry that something was wrong. STORY CONTINUES BELOW THIS AD Then came Silvana Santos. A biologist and geneticist from São Paulo, Santos first arrived in the village more than 20 years ago. What started as a small investigation slowly turned into something much bigger—years of research, DNA samples, and interviews with dozens of families. Eventually, she pieced it all together. The mystery illness had a name: Spoan syndrome. Caused by a genetic mutation, the syndrome gradually affects the nervous system, weakening the body over time and in most cases, the person becomes fully dependent by their 50s. Spoan syndrome is caused by a genetic mutation. The syndrome gradually affects the nervous system, weakening the body over time and in most cases, the person becomes fully dependent by their 50s. Image for Representation. Pixabay Santos's discovery was groundbreaking. It marked the first time this disease had ever been identified anywhere in the world. And for the people of Serrinha dos Pintos, it changed everything. 'She gave us a diagnosis we never had. After the research, help came: people, funding, wheelchairs,' said Marquinhos, one of the patients, speaking to the BBC. So what exactly is Spoan syndrome, and why has it affected so many people in this one Brazilian town? Here's a closer look. Serrinha dos Pintos: 'A world of its own' When Silvana Santos first arrived in Serrinha dos Pintos, she said, it was like stepping into 'a world of its own' - not just because of the lush scenery and mountain views, but also because of how closely connected everyone was. The more she walked and spoke with locals, the more surprised she was at how common marriages between cousins were. The town of over 5000 people has stayed fairly isolated for generations, with little movement in or out. As a result, cousin marriages are socially accepted and remarkably common. STORY CONTINUES BELOW THIS AD A 2010 study led by Santos revealed that more than 30 per cent of couples in Serrinha were related by blood. And among those couples, one-third had at least one child living with a disability, according to the BBC. To put it in perspective, globally, cousin marriages account for around 10 per cent of all unions—but the numbers vary wildly. In countries like Pakistan, the rate is above 50 per cent. In contrast, it's less than 1 per cent in places like the US and Russia. In Brazil overall, it's between 1–4 per cent. In Brazil, cousin marriages are between 1–4 per cent. Representational Image | Pixabay. While most children born to cousins are completely healthy, geneticists point out that the risk of passing on rare inherited disorders nearly doubles when both parents share the same DNA background. 'If a couple is unrelated, the chance of having a child with a rare genetic disorder is about 2–3 per cent. For cousins, the risk rises to 5–6 per cent per pregnancy,' explained Luzivan Costa Reis, a geneticist at the Federal University of Rio Grande do Sul. STORY CONTINUES BELOW THIS AD 'In Serrinha dos Pintos, deep down, we're all cousins. We're related to everyone,' says 25-year-old Larissa Queiroz, who married her distant relative. She said that she and her husband, Saulo, only discovered their common ancestor after several months of dating. A gene game What started as a simple research trip for Silvana Santos quickly became a mission that would span years. She drove the 2,000 kilometres from São Paulo to Serrinha dos Pintos more times than she could count—knocking on doors, collecting DNA samples, sitting down with families over coffee, and slowly piecing together the puzzle. By 2005, her team published the first scientific paper describing Spoan syndrome. It was a breakthrough. The cause? A tiny deletion on one chromosome leads to the overproduction of a key protein in brain cells. Over time, that imbalance begins to break down the body's nervous system. Spoan Syndrome is caused by a tiny deletion on one chromosome that leads to the overproduction of a key protein in brain cells. Over time, that imbalance begins to break down the body's nervous system. Image for Representation. Pixabay But what fascinated researchers even more was just how old the mutation seemed to be, possibly dating back centuries, long before the town itself had even formed. When scientists looked closer at the DNA of Spoan patients, they found strong European ancestry: Portuguese, Dutch, and Sephardic Jewish roots. STORY CONTINUES BELOW THIS AD That theory gained weight when two people in Egypt were also diagnosed with Spoan. Their DNA showed the same genetic markers as the cases in Brazil. 'It likely came with related Sephardic Jews or Moors fleeing the Inquisition,' Santos told the BBC. She also believes there could be more undiagnosed cases out there—possibly in Portugal and beyond. So far, 82 cases have been identified across the world. Is there a cure? There's no cure for Spoan—not yet. But Santos' research has helped shift public understanding. Where once children with the condition were labelled 'cripples,' people now speak of them with clarity and compassion. They're simply said to have Spoan, reports BBC. Today, Santos is part of a government-backed initiative that will screen 5,000 couples across Brazil for recessive genetic diseases. The project, supported by the Ministry of Health, isn't aimed at stopping cousin marriages. Instead, it's about giving families the knowledge to make informed choices. Now a university professor, Santos is still pushing for better genetic testing and education, especially in Brazil's underserved northeast, where stories like Serrinha's are still unfolding. With input from agencies
BBC News
12-05-2025
- Health
- BBC News
The rare disease in a remote town where 'almost everyone is a cousin'
Before Silvana Santos arrived in the little town of Serrinha dos Pintos more than 20 years ago, residents had no idea why so many local children had lost the ability to walk. The remote town in north-eastern Brazil is home to fewer than 5,000 people, and is where biologist and geneticist Santos identified and named a previously unknown condition: Spoan syndrome. Caused by a genetic mutation, the syndrome affects the nervous system, gradually weakening the body. It only appears when the altered gene is inherited from both parents. Santos's research marked the first time the disease had been described anywhere in the world. For this and later work, she was named one of the BBC's 100 most influential women in 2024. Before Santos arrived, families had no explanation for the illness affecting their children. Today, residents talk confidently about Spoan and genetics. "She gave us a diagnosis we never had. After the research, help came: people, funding, wheelchairs," says Marquinhos, one of the patients. Serrinha dos Pintos: a world of its own Where Santos is from in São Paulo, Brazil's largest and wealthiest city, many of her neighbours were members of the same extended family originally from Serrinha. Many of them were cousins of varying degrees, married to each other. They told Santos that many of people in their hometown couldn't walk, but that no-one knew why. One of the neighbours' daughters, Zirlândia, suffered from a debilitating condition: as a child, her eyes moved involuntarily and over time, she lost strength in her limbs and needed to use a wheelchair, requiring help with even the simplest tasks. Years of investigation would lead Santos and a research team to identify these as symptoms of Spoan syndrome. They would go on to find 82 other cases worldwide. At the invitation of her neighbours, Santos visited Serrinha on holiday. She describes her arrival as stepping into "a world of its own" - not just because of the lush scenery and mountain views, but also due to what seemed to be a notable social coincidence. The more she walked and spoke with locals, the more surprised she was at how common marriages between cousins were. Serrinha's geographical isolation and little inward migration mean that many of the population are related, making marriage between cousins far more likely and more socially acceptable. Worldwide, marriages between relatives were estimated at around 10% in the early 2010s. More recent data shows the rate varies widely, from over 50% in countries like Pakistan, to 1-4% in Brazil and less than 1% in the US and Russia. Most children born to pairs of cousins are healthy, experts say. But these marriages do face a higher risk of a harmful genetic mutation being passed down through the family. "If a couple is unrelated, the chance of having a child with a rare genetic disorder or disability is about 2–3%. For cousins, the risk rises to 5–6% per pregnancy," explains geneticist Luzivan Costa Reis from Brazil's Federal University of Rio Grande do Sul. A 2010 study led by Santos showed that more than 30% of couples in Serrinha were related, and a third of them had at least one child with a disability. Long road to diagnosis Santos set out to find a diagnosis for the people of Serrinha and she began planning a detailed genetic study, requiring multiple trips and eventually leading to her relocating to the region. She drove the 1,250 miles (2,000km) to and from São Paulo many times in the early years of her research. She collected DNA samples door-to-door, chatting to locals over coffee and gathering family stories, all the while trying to locate the mutation causing the disease. What was supposed to be three months of fieldwork turned into years of dedication. It all led to the publication in 2005 of the team's study revealing the existence of Spoan in the Brazilian hinterland. Santos's 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. "They said it came from Maximiano, a womaniser in our family," recalls farmer Lolô, whose daughter Rejane has Spoan. Lolô, now 83, married his cousin and never left Serrinha. He still tends cattle and relies on family to care for Rejane, who struggles with daily tasks. But the genetic mutation behind Spoan is far older than the legend of Old Maximiano: it likely arrived more than 500 years ago with early European settlers in the north-east of Brazil. "Sequencing studies show strong European ancestry in patients, supporting records of Portuguese, Dutch, and Sephardic Jewish presence in the region," says Santos. The theory gained strength after two Spoan cases were found in Egypt, and further studies showed that the Egyptian cases also shared European ancestry, pointing to a common origin in the Iberian Peninsula. "It likely came with related Sephardic Jews or Moors fleeing the Inquisition," says Santos. She believes more cases may exist globally, especially in Portugal. Understanding the risks Although there's been little progress toward a cure, tracking patients has brought some change. Rejane recalls how people used to be called "cripples". Now, they're simply said to have Spoan. Wheelchairs brought not just independence, but also helped prevent deformities - in the past, many with the condition had been left simply lying in bed or on the floor. As Spoan progresses, physical limitations worsen with age and by 50, nearly all patients become fully dependent on carers. This is the case for Inés's children, who are among the oldest in Serrinha. Chiquinho, 59, can no longer speak, and Marquinhos, 46, has limited communication abilities. "It's hard to have a 'special' child. We love them the same, but we suffer for them," says Inés, who is married to a second cousin. Larissa Queiroz, 25, the niece of Chiquinho and Marquinho, also married a distant relative. She and her husband, Saulo, only discovered their common ancestor after several months of dating. "In Serrinha dos Pintos, deep down, we're all cousins. We're related to everyone," she says. Couples like Larissa and Saulo are the focus of a new research project which Santos is also involved in. Backed by Brazil's Ministry of Health, it will screen 5,000 couples for genes linked to serious recessive diseases. The goal is not to stop cousin marriages, but to help couples understand their genetic risks, says Santos. Now a university professor, she also leads a genetics education centre and works to expand testing in the north-east of Brazil. Though she no longer lives in Serrinha dos Pintos, every visit feels like coming home. "It's as if Santos is family," says Inés.
Daily Mirror
12-05-2025
- Health
- Daily Mirror
Town where 'nearly everyone is a cousin' ravaged by extremely rare disease
In the small remote town of Serrinha dos Pintos in Brazil, lots of children were left unable to walk and were losing strength in their limbs, leaving medics baffled A remote town where nearly everyone is a cousin has been ravaged by an extremely rare disease which left thousands of children unable to walk. In north-eastern Brazil, Serrinha dos Pintos is home to fewer than 5,000 locals and a rare genetic condition called Spoan syndrome, which appears when the gene is inherited from both parents. It affects the nervous system and slowly weakens the body. The condition was previously unknown, and many families were baffled as to why their children in the town couldn't walk. People had no explanation for the illness until geneticist Silvana Santos arrived more than 20 years ago. Her groundbreaking research identified the disease, and she was named one of the BBC's 100 most influential women in 2024. Patients now can confidently talk about their condition, which has left many of them unable to walk. "She gave us a diagnosis we never had. After the research, help came: people, funding, wheelchairs," patient Marquinhos told the BBC. Santos, from São Paulo, Brazil's largest and wealthiest city, discovered that many of her neighbours were from the same extended family in Serrinha. It later emerged that lots of them were cousins, married to each other. She was able to research and identify many of the symptoms, which included eyes moving involuntarily, losing strength in limbs, and needing a wheelchair to carry out daily tasks. Eighty-two cases were also discovered worldwide. Santos was invited to visit Serrinha on holiday and stepped into a " world of its own" where she was left stunned at how common cousin marriages were. Due to the town's isolation and little migration, much of the population is related, making marriage between cousins far more likely. Experts say marriages between relatives were believed to be around 10% worldwide in the early 2010s. However, more recent data shows that it's over 50% in countries like Pakistan, 1% to 4% in Brazil and less than 1% in the US and Russia. Despite research showing most children born to pairs of cousins are healthy, the risks of a harmful genetic mutation being passed down the family remains. "If a couple is unrelated, the chance of having a child with a rare genetic disorder or disability is about 2–3%. For cousins, the risk rises to 5–6% per pregnancy," geneticist Luzivan Costa Reis from Brazil's Federal University of Rio Grande do Sul said. According to a 2010 study led by Santos, more than 30% of couples in Serrinha were related, and a third of them had at least one child with a disability. The genetic mutation is likely to have arrived more than 500 years ago with early European settlers in the north-east of Brazil. "Sequencing studies show strong European ancestry in patients, supporting records of Portuguese, Dutch, and Sephardic Jewish presence in the region," says Santos. Two Spoan cases were discovered in Egypt, which also shared European ancestry. "It likely came with related Sephardic Jews or Moors fleeing the Inquisition," says Santos. She believes more cases may exist globally, especially in Portugal. Despite little progress towards a cure, tracking the mutation has brought some change. Locals previously known as "cripples" are now said to have Spoan. In addition, wheelchairs have also helped people and given them independence, whereas before they were likely to be bed-bound. Experts say the symptoms get worse with age, and by 50, all patients become reliant on carers. Larissa Queiroz, 25, discovered her husband, Saulo, was a distant relative after several months of dating. "In Serrinha dos Pintos, deep down, we're all cousins. We're related to everyone," she admitted.
Saudi Gazette
12-05-2025
- Health
- Saudi Gazette
The rare disease in a remote town where 'almost everyone is a cousin'
SERRINHA DOS PINTOS, Brazil — Before Silvana Santos arrived in the little town of Serrinha dos Pintos more than 20 years ago, residents had no idea why so many local children had lost the ability to walk. The remote town in north-eastern Brazil is home to fewer than 5,000 people, and is where biologist and geneticist Santos identified and named a previously unknown condition: Spoan syndrome. Caused by a genetic mutation, the syndrome affects the nervous system, gradually weakening the body. It only appears when the altered gene is inherited from both parents. Santos's research marked the first time the disease had been described anywhere in the world. For this and later work, she was named one of the BBC's 100 most influential women in 2024. Before Santos arrived, families had no explanation for the illness affecting their children. Today, residents talk confidently about Spoan and genetics. "She gave us a diagnosis we never had. After the research, help came: people, funding, wheelchairs," says Marquinhos, one of the patients. Where Santos is from in São Paulo, Brazil's largest and wealthiest city, many of her neighbors were members of the same extended family originally from Serrinha. Many of them were cousins of varying degrees, married to each other. They told Santos that many of people in their hometown couldn't walk, but that no one knew why. One of the neighbors' daughters, Zirlândia, suffered from a debilitating condition: as a child, her eyes moved involuntarily and over time, she lost strength in her limbs and needed to use a wheelchair, requiring help with even the simplest tasks. Years of investigation would lead Santos and a research team to identify these as symptoms of Spoan syndrome. They would go on to find 82 other cases worldwide. At the invitation of her neighbors, Santos visited Serrinha on holiday. She describes her arrival as stepping into "a world of its own" — not just because of the lush scenery and mountain views, but also due to what seemed to be a notable social coincidence. The more she walked and spoke with locals, the more surprised she was at how common marriages between cousins were. Serrinha's geographical isolation and little inward migration mean that many of the population are related, making marriage between cousins far more likely and more socially acceptable. Worldwide, marriages between relatives were estimated at around 10% in the early 2010s. More recent data shows the rate varies widely, from over 50% in countries like Pakistan, to 1-4% in Brazil and less than 1% in the US and Russia. Most children born to pairs of cousins are healthy, experts say. But these marriages do face a higher risk of a harmful genetic mutation being passed down through the family. "If a couple is unrelated, the chance of having a child with a rare genetic disorder or disability is about 2–3%. For cousins, the risk rises to 5–6% per pregnancy," explains geneticist Luzivan Costa Reis from Brazil's Federal University of Rio Grande do Sul. A 2010 study led by Santos showed that more than 30% of couples in Serrinha were related, and a third of them had at least one child with a disability. Santos set out to find a diagnosis for the people of Serrinha and she began planning a detailed genetic study, requiring multiple trips and eventually leading to her relocating to the region. She drove the 2,000km to and from São Paulo many times in the early years of her research. She collected DNA samples door-to-door, chatting to locals over coffee and gathering family stories, all the while trying to locate the mutation causing the disease. What was supposed to be three months of fieldwork turned into years of dedication. It all led to the publication in 2005 of the team's study revealing the existence of Spoan in the Brazilian hinterland. Santos's 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. "They said it came from Maximiano, a womanizer in our family," recalls farmer Lolô, whose daughter Rejane has Spoan. Lolô, now 83, married his cousin and never left Serrinha. He still tends cattle and relies on family to care for Rejane, who struggles with daily tasks. But the genetic mutation behind Spoan is far older than the legend of Old Maximiano: it likely arrived more than 500 years ago with early European settlers in the north-east of Brazil. "Sequencing studies show strong European ancestry in patients, supporting records of Portuguese, Dutch, and Sephardic Jewish presence in the region," says Santos. The theory gained strength after two Spoan cases were found in Egypt, and further studies showed that the Egyptian cases also shared European ancestry, pointing to a common origin in the Iberian Peninsula. "It likely came with related Sephardic Jews or Moors fleeing the Inquisition," says Santos. She believes more cases may exist globally, especially in Portugal. Although there's been little progress toward a cure, tracking patients has brought some change. Rejane recalls how people used to be called "cripples". Now, they're simply said to have Spoan. Wheelchairs brought not just independence, but also helped prevent deformities — in the past, many with the condition had been left simply lying in bed or on the floor. As Spoan progresses, physical limitations worsen with age and by 50, nearly all patients become fully dependent on carers. This is the case for Inés's children, who are among the oldest in Serrinha. Chiquinho, 59, can no longer speak, and Marquinhos, 46, has limited communication abilities. "It's hard to have a 'special' child. We love them the same, but we suffer for them," says Inés, who is married to a second cousin. Larissa Queiroz, 25, the niece of Chiquinho and Marquinho, also married a distant relative. She and her husband, Saulo, only discovered their common ancestor after several months of dating. "In Serrinha dos Pintos, deep down, we're all cousins. We're related to everyone," she says. Couples like Larissa and Saulo are the focus of a new research project which Santos is also involved in. Backed by Brazil's Ministry of Health, it will screen 5,000 couples for genes linked to serious recessive diseases. The goal is not to stop cousin marriages, but to help couples understand their genetic risks, says Santos. Now a university professor, she also leads a genetics education center and works to expand testing in the north-east of Brazil. Though she no longer lives in Serrinha dos Pintos, every visit feels like coming home. "It's as if Santos is family," says Inés. — BBC
Hindustan Times
12-05-2025
- Health
- Hindustan Times
Inside the secluded village battling a rare disease where ‘everyone is somehow a cousin'
More than two decades ago, biologist and geneticist Silvana Santos made a trip to Serrinha dos Pintos, a remote town nestled in the hills of northeastern Brazil. With fewer than 5,000 residents, the town had long been grappling with a baffling medical mystery; many children were losing their ability to walk, and families had no explanation, reported the BBC. Santos was initially drawn to the town through her neighbours in São Paulo, many of whom had roots in Serrinha and had married within their extended families. They shared troubling accounts of relatives back home afflicted by an unknown illness. This visit would eventually lead Santos to uncover and name a previously unknown genetic disorder, Spoan syndrome, marking a turning point for the town's medical and social understanding. It marked the first time the disease had ever been described globally, and her groundbreaking work later earned her a spot on the BBC's list of 100 most influential women in 2024. Spoan syndrome is caused by a genetic mutation that weakens the nervous system over time. The condition only appears when the mutated gene is inherited from both parents. Today, thanks to Santos, locals speak openly about genetics and Spoan. 'She gave us a diagnosis we never had. After the research, help came: people, funding, wheelchairs,' says Marquinhos, one of the patients. The discovery began in São Paulo, where Santos lived in a neighbourhood with many people originally from Serrinha dos Pintos. Some were married to cousins and shared concerns about relatives in their hometown who couldn't walk. One woman, Zirlândia, suffered from involuntary eye movements and eventually lost strength in her limbs, needing constant assistance. Encouraged by her neighbours, Santos travelled to the town and was struck by what she found: both the natural beauty and the strong presence of interrelated families. Marriage between cousins was common, a result of the town's geographic isolation and minimal outside migration. Global studies estimate that about 10% of marriages occur between relatives, but the rate varies by country: over 50% in Pakistan, around 1–4% in Brazil, and less than 1% in places like the US and Russia. Most children of cousin couples are healthy, but the risk of rare genetic disorders increases when both parents carry the same mutation. 'If a couple is unrelated, the chance of having a child with a rare genetic disorder or disability is about 2–3%. For cousins, the risk rises to 5–6% per pregnancy,' says Luzivan Costa Reis, a geneticist at the Federal University of Rio Grande do Sul. In a 2010 study led by Santos, more than 30% of couples in Serrinha were related, and a third of them had at least one child with a disability. Determined to find answers, Santos began an in-depth genetic investigation. She frequently drove 2,000 km between São Paulo and Serrinha, collecting DNA samples, speaking with families, and tracing histories over coffee chats. What began as a short research trip turned into years of committed fieldwork. Her efforts culminated in a 2005 study that officially documented Spoan syndrome, caused by a loss of a small fragment of a chromosome. This defect leads a gene to overproduce a key protein in brain cells, disrupting normal neurological function. 'They said it came from Maximiano, a womaniser in our family,' recalls farmer Lolô, whose daughter Rejane lives with the condition. Now 83, Lolô still lives in Serrinha and relies on family to care for Rejane. But scientists believe the genetic mutation predates local legends and likely arrived in Brazil over 500 years ago with early European settlers. 'Sequencing studies show strong European ancestry in patients, supporting records of Portuguese, Dutch, and Sephardic Jewish presence in the region,' explains Santos. Her theory gained further support when two cases of Spoan were identified in Egypt. Genetic analysis linked them to the same European ancestry, possibly tracing the mutation's origin back to Sephardic Jews or Moors fleeing the Inquisition on the Iberian Peninsula. Though there is still no cure, Santos's work has changed lives in Serrinha. Awareness has replaced stigma, and resources like wheelchairs have offered mobility and independence. In the past, people with the condition were often bedridden or left on the floor. As the disease progresses, patients typically become fully dependent by age 50. This is the case for Inés's sons, Chiquinho and Marquinhos. 'It's hard to have a 'special' child. We love them the same, but we suffer for them,' says Inés, who is married to her second cousin. Their niece, Larissa Queiroz, 25, also married a distant cousin. Only after months of dating did she and her husband realise they shared a common ancestor. 'In Serrinha dos Pintos, deep down, we're all cousins. We're related to everyone,' Larissa admits. Also read: How UK is changing visa rules to crack down on immigration, target low-paid workers Couples like Larissa and Saulo are now part of a new genetic screening initiative backed by Brazil's Ministry of Health. The project aims to test 5,000 couples for genes linked to serious recessive diseases. The goal is not to discourage cousin marriages, Santos says, but to equip couples with knowledge about potential risks. Now a university professor, she also runs a genetics education center and advocates for better testing access in northeastern Brazil. Although she no longer lives in Serrinha dos Pintos, Santos still returns regularly. 'It's as if Santos is family,' says Inés. Also read: Australian man calls Bengaluru slang 'pointless', internet claps back with cultural origins
