An African project seeks to help people with rare diseases
Addressing the data void
Some rare conditions can be caught early and treated – but in parts of Africa where population data and resources are scarce, many people go undiagnosed.
Ndeye Lam visits the cemetery often, praying and gently touching the seashells laid out across her daughter’s gravesite.
“Mariama will always be here,” she said, stepping away from the grave and onto a path that winds through rows of monuments outlined with white tile, stone and sand.
At home, Lam and her husband Pathé smiled over an old video clip of their daughter beaming as she celebrated her 13th birthday with cake and sparklers. When the girl was little, she loved to play. By 13, her muscles had weakened, her spine had curved and stiffened and in her last months, she struggled increasingly to breathe.
She visited Fann hospital in Dakar, where neurologist Dr Pedro Rodriguez Cruz measured her lung capacity. He suspects Mariama had SELENON-related myopathy, a muscular dystrophy that causes severe respiratory compromise. A new BiPAP machine might have helped to ease her breathing, but it was too late.
Globally, more than 350 million people live with rare diseases, most of them caused by a misstep hidden within their genes. Some conditions can be caught early and treated – but in parts of Africa where population data and resources are scarce, many people go undiagnosed. Rodriguez is trying to change that by connecting patients with genetic testing and medical support, while gathering key data from those patients and their families.
“Most rare disease data has been collected from people of European ancestry, so we have very little knowledge about what’s happening in other parts of the world, mainly in Africa,” Rodriguez said.
His research is funded by organisations including the La Caixa Foundation in Spain and the National Ataxia Foundation in the United States. And he has consulted with scientists in China, France, Boston, and elsewhere around the world, documenting rare diseases and novel disease-causing gene variants.
That research is creating a library of genetic data for scientists and clinicians. Patients in Senegal are benefiting, too, with a path to diagnosis.
Genetic testing and diagnosis can be life-saving
Prof Moustapha Ndiaye, head of the neurology department at Fann, hopes young physicians will graduate prepared to assist rare disease patients not just in Senegal but in other African countries.
“Students travel from across Africa to study here,” Ndiaye said.
At the start of her career, Dr Henriette Senghor saw patients who were hospitalised for months. Some died, and no one knew why.
“There was this problem – there was this void,” said Senghor, who’s now training with Rodriguez.
In 2021, Rodriguez established a partnership between the Cheikh Anta Diop University of Dakar and CNAG, the National Center for Genomic Analysis in Barcelona. Rodriguez collects patients’ blood samples and delivers the extracted DNA to Barcelona, where scientists sequence it, storing the answers it holds in a large database. Almost 1 300 participants –patients and families – have enrolled in his study of rare disease in West Africa.
Data is the first step
Back at Fann Hospital, Rodriguez and Senghor consult with Woly Diene, 25, and her mother and brother. When Diene was 15, she started falling at school. Soon, she felt pain throughout her body. She couldn’t move. She lost her hearing, the strength in her hands and control of the muscles in her face.
Diene, who comes from a rural village in Senegal, has riboflavin transporter deficiency. High doses of vitamin B2 – a supplement available on Amazon – can slow, stop and even reverse damage from this condition that is fatal without treatment.
Diene took her first dose when she was diagnosed in August 2023. She still has some difficulty hearing, but Diene is walking again. She has regained the strength in her face and hands. Diene’s brother Thierno said vitamin B2 is expensive, but he knows his sister needs it for the rest of her life.
“I am happy,” Diene said, smiling. “I hope to keep improving.”
While efforts like these help patients, they also allow doctors to collect data – and that’s vital for rare disease research, policy and drug development, said Lauren Moore, chief scientific officer at the National Ataxia Foundation.
“The most prevalent diseases get the most attention and the most funding,” she said. “Data ... really is the first step.”
A US$50 000 grant from the foundation allows Rodriguez and colleagues to enroll study participants in Senegal and Nigeria with inherited ataxias, which can lead to muscle weakness, loss of mobility, hearing and vision difficulties and life-shortening heart problems.
The USAID cuts have not affected his research, but grant awards are limited. Rodriguez, Senghor and Rokhaya Ndiaye, professor of human genetics at the University of Dakar, are making plans to ensure genetic testing continues in Senegal.
Global collaboration is essential, said Ndiaye – and strengthening local infrastructure is just as important.
“The need is there,” she said. “And we have a lot of hope.”
“Mariama will always be here,” she said, stepping away from the grave and onto a path that winds through rows of monuments outlined with white tile, stone and sand.
At home, Lam and her husband Pathé smiled over an old video clip of their daughter beaming as she celebrated her 13th birthday with cake and sparklers. When the girl was little, she loved to play. By 13, her muscles had weakened, her spine had curved and stiffened and in her last months, she struggled increasingly to breathe.
She visited Fann hospital in Dakar, where neurologist Dr Pedro Rodriguez Cruz measured her lung capacity. He suspects Mariama had SELENON-related myopathy, a muscular dystrophy that causes severe respiratory compromise. A new BiPAP machine might have helped to ease her breathing, but it was too late.
Globally, more than 350 million people live with rare diseases, most of them caused by a misstep hidden within their genes. Some conditions can be caught early and treated – but in parts of Africa where population data and resources are scarce, many people go undiagnosed. Rodriguez is trying to change that by connecting patients with genetic testing and medical support, while gathering key data from those patients and their families.
“Most rare disease data has been collected from people of European ancestry, so we have very little knowledge about what’s happening in other parts of the world, mainly in Africa,” Rodriguez said.
His research is funded by organisations including the La Caixa Foundation in Spain and the National Ataxia Foundation in the United States. And he has consulted with scientists in China, France, Boston, and elsewhere around the world, documenting rare diseases and novel disease-causing gene variants.
That research is creating a library of genetic data for scientists and clinicians. Patients in Senegal are benefiting, too, with a path to diagnosis.
Genetic testing and diagnosis can be life-saving
Prof Moustapha Ndiaye, head of the neurology department at Fann, hopes young physicians will graduate prepared to assist rare disease patients not just in Senegal but in other African countries.
“Students travel from across Africa to study here,” Ndiaye said.
At the start of her career, Dr Henriette Senghor saw patients who were hospitalised for months. Some died, and no one knew why.
“There was this problem – there was this void,” said Senghor, who’s now training with Rodriguez.
In 2021, Rodriguez established a partnership between the Cheikh Anta Diop University of Dakar and CNAG, the National Center for Genomic Analysis in Barcelona. Rodriguez collects patients’ blood samples and delivers the extracted DNA to Barcelona, where scientists sequence it, storing the answers it holds in a large database. Almost 1 300 participants –patients and families – have enrolled in his study of rare disease in West Africa.
Data is the first step
Back at Fann Hospital, Rodriguez and Senghor consult with Woly Diene, 25, and her mother and brother. When Diene was 15, she started falling at school. Soon, she felt pain throughout her body. She couldn’t move. She lost her hearing, the strength in her hands and control of the muscles in her face.
Diene, who comes from a rural village in Senegal, has riboflavin transporter deficiency. High doses of vitamin B2 – a supplement available on Amazon – can slow, stop and even reverse damage from this condition that is fatal without treatment.
Diene took her first dose when she was diagnosed in August 2023. She still has some difficulty hearing, but Diene is walking again. She has regained the strength in her face and hands. Diene’s brother Thierno said vitamin B2 is expensive, but he knows his sister needs it for the rest of her life.
“I am happy,” Diene said, smiling. “I hope to keep improving.”
While efforts like these help patients, they also allow doctors to collect data – and that’s vital for rare disease research, policy and drug development, said Lauren Moore, chief scientific officer at the National Ataxia Foundation.
“The most prevalent diseases get the most attention and the most funding,” she said. “Data ... really is the first step.”
A US$50 000 grant from the foundation allows Rodriguez and colleagues to enroll study participants in Senegal and Nigeria with inherited ataxias, which can lead to muscle weakness, loss of mobility, hearing and vision difficulties and life-shortening heart problems.
The USAID cuts have not affected his research, but grant awards are limited. Rodriguez, Senghor and Rokhaya Ndiaye, professor of human genetics at the University of Dakar, are making plans to ensure genetic testing continues in Senegal.
Global collaboration is essential, said Ndiaye – and strengthening local infrastructure is just as important.
“The need is there,” she said. “And we have a lot of hope.”
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