Family Foundation Spotlight: Q&A with Jo Kaur of the Riaan Research Initiative
This is the first post in Andelyn’s blog series featuring Q&A interviews with patient foundations to showcase their missions and the impact they are making. We are honored to start the series with the Riaan Research Initiative.
About Riaan Research Initiative
The Riaan Research Initiative is a 501(c)(3) nonprofit organization founded to accelerate and fund the development of treatments for Cockayne syndrome. Riaan has become the first child treated with gene therapy for Cockayne syndrome. He received an AAV9 gene therapy via an ICV neurosurgical procedure. It has been seven weeks since dosing. He's remained clinically stable, and is doing well.
About Cockayne Syndrome
Cockayne syndrome is a complex, multisystem disorder caused by defects in DNA transcription and repair. The disease progresses relentlessly, leading to neurodegeneration, vision and hearing loss, global developmental delays, growth failure, ataxia, and tremors. It is also ultra-rare, affecting only a few hundred children and adults worldwide. Children with Cockayne syndrome often die from respiratory complications and/or kidney failure.
Interview with Jo Kaur, Founder and Chair, Riaan Research Initiative
Jo Kaur founded the Riaan Research Initiative to transform the landscape for children like her son, Riaan. In this interview, she shares her family’s journey, the critical role patient foundations play in advancing therapies, and what true partnership in rare disease drug development looks like.
Question: For people meeting you and Riaan for the first time, what do you most want them to understand about your family’s journey?
Kaur: I want them to understand that this is a love story. I've never loved anyone as much as I love Riaan. That love propelled me into an unfamiliar research ecosystem, into conversations with scientists, clinicians, and manufacturers, with a confidence and authority I never could have imagined. When I was pregnant with Riaan, I met this kind, older woman in a candle shop at the Atlanta airport. We bonded, and she told me she always knew and understood babies, long before anyone else. Touching my belly, she said: "This one is special, this one is going to change the world." I think she was right. Aside from the gene therapy, Riaan has brought tremendous, unbelievable joy to everyone, near and far. Our family has had the best six years together. We're happy. I want people to understand that ours isn't a story of suffering or tragedy. It's a story of unconditional love and faith.
Question: Was there a moment when your role shifted from being “just a mom” to becoming an advocate, organizer, and builder of something much bigger?
Kaur: Yes. The second he was diagnosed, I realized I was not enough. I needed to do more, to make the world worthy of him, to give him a chance at the life he deserved. I had been gifted the most radiant, precious child. There was no way we were going down without a fight, no matter what disease he had.
Question: What do people often misunderstand about why patient families create foundations in the first place?
Kaur: We don’t know where we’re going, and not all of us will succeed. But by laying a foundation, literally speaking, we’re changing the trajectory. That alone is worth supporting. It’s not only for our own child, though they deserve access to treatments too. It’s for something bigger: the next child, the next family, the next disease community. Patient family founders do this hard work solely out of love, and love drives change better than anything else in the known universe. We wear our hearts on our sleeves and have no hidden agenda. You know exactly who you're working with and supporting.
Patient family founders do this hard work solely out of love, and love drives change better than anything else in the known universe.
Question: How do families bring a different kind of leadership to the progress of rare disease therapy?
Kaur: We are fearless because our fuel is love. Parents will move mountains for their children. We will initiate, we will push, we will question, and we will problem-solve. We are not constrained by the same assumptions about what is possible, because for us, this is life and death. Who wouldn’t want that perspective at the table?
Question: You’ve advocated for patient families to have a “seat at the table” during manufacturing. What does that look like in practice, and what perspectives do families bring that others may not see?
Kaur: In practice, it means including families in major discussions about manufacturing challenges, timelines, and decision-making, rather than treating them as passive observers. Talk to the technical experts but talk to us too. We also bring the perspective that there’s no redo. We only have one chance, and we have to get it right. The millions of dollars we struggle to raise are as precious as a glass of water while lost in the desert. Once we spend those funds, that’s it.
For instance, our family is a single-income family living in New York City. My husband is a public-school teacher, and I became a full-time caregiver for Riaan while volunteering with the Riaan Research Initiative. Sometimes, Richie and I would sit around the dinner table, feeling the absurdity of sending a half-million-dollar check to an academic institution in the morning while wondering that evening whether we could pay our own bills.
We used our savings and retirement plans to give Riaan and his little brother, Jivan, the best life we could. We stopped planning for homeownership or some distant future. Like many other families, we sacrificed a great deal to raise the funds needed to build this treatment. We’re not a company that can close up shop and emerge somewhere else. Our children don’t have the time, and our foundations don’t have unlimited resources. It’s a perspective worth having in the room.
Question: What does true partnership look like between a manufacturer and a patient foundation?
Kaur: A true partnership involves transparency, accountability, and a willingness to work together to solve problems. It also means being open to inviting independent CMC experts into the process when needed and to have honest conversations about establishing a productive working relationship. No one sets out to be a roadblock.
Question: How can technical teams explain progress, setbacks, or uncertainty in a way that respects families without overwhelming them?
Kaur: One thing I've found helpful is distinguishing between expected and unexpected deviations. For most of us, this is our first exposure to GMP manufacturing. Has this deviation happened before? How was it addressed? Is there a protocol? What's the timeline? Does it affect the product's safety? Strong answers to these questions help families understand manufacturing challenges without unnecessary confusion.
Question: What kind of communication from a manufacturing partner builds the most trust for you throughout the process?
Kaur: Transparency, through and through. We can handle bad news. The worst news we received was our child's diagnosis. By entering this work, we've already accepted that we're in constant problem-solving mode. We want honesty, a somber evaluation of the situation, and a partnership that understands and values our limited resources and time. Tell us what happened, tell us what you're doing to fix it, and we'll work alongside you to get there.
Question: When you think about the progress made through the Riaan Research Initiative, what does meaningful progress look like beyond timelines and milestones?
Kaur: Meaningful progress is hope becoming tangible. It's watching scientists who had never heard of Cockayne syndrome become invested in our children. It's families finding one another instead of feeling alone. It's about building infrastructure that will outlive us and continuing to push for next-generation treatments. Whether or not every effort succeeds, we've changed what's possible. No family starting this journey today is starting where we started, and that's progress.
Question: What is your hope for the next family that may start a foundation?
Kaur: I know they’re desperate, and I understand that desperation. But I think every family starting should pause and try to understand the landscape before committing to a treatment path. Talk to as many foundations, academics, clinicians, manufacturers, and others in the field as they can. Take notes on these conversations, and trust their intuition. Build the right team from the very beginning and use funds strategically. Drug development can’t happen sequentially; they have to map out the entire chessboard from day one if they really want to get it right. Science matters, but scientific expertise does not always equate to mastery of regulatory or drug development. Choose collaborators who value urgency, humility, intellectual honesty, dedication to children living with rare diseases, and respect for everyone on the team. The right team will take families farther and faster than they imagined.
Advancing Therapies Through Partnership
Patient-founded organizations like the Riaan Research Initiative play a critical role in advancing rare disease research and bringing communities together around a shared mission. Their leadership, persistence, and experience help drive progress for patients and families who cannot afford to wait.
Visit Riaan Research Initiative to learn more.
Families navigating a rare disease diagnosis can also explore Andelyn’s Rare Disease Toolkit for resources, guidance, and support.
This is the first post in Andelyn’s blog series featuring Q&A interviews with patient foundations to showcase their missions and the impact they are making. We are honored to start the series with the Riaan Research Initiative.
About Riaan Research Initiative
The Riaan Research Initiative is a 501(c)(3) nonprofit organization founded to accelerate and fund the development of treatments for Cockayne syndrome. Riaan has become the first child treated with gene therapy for Cockayne syndrome. He received an AAV9 gene therapy via an ICV neurosurgical procedure. It has been seven weeks since dosing. He's remained clinically stable, and is doing well.
About Cockayne Syndrome
Cockayne syndrome is a complex, multisystem disorder caused by defects in DNA transcription and repair. The disease progresses relentlessly, leading to neurodegeneration, vision and hearing loss, global developmental delays, growth failure, ataxia, and tremors. It is also ultra-rare, affecting only a few hundred children and adults worldwide. Children with Cockayne syndrome often die from respiratory complications and/or kidney failure.
Interview with Jo Kaur, Founder and Chair, Riaan Research Initiative
Jo Kaur founded the Riaan Research Initiative to transform the landscape for children like her son, Riaan. In this interview, she shares her family’s journey, the critical role patient foundations play in advancing therapies, and what true partnership in rare disease drug development looks like.
Question: For people meeting you and Riaan for the first time, what do you most want them to understand about your family’s journey?
Kaur: I want them to understand that this is a love story. I've never loved anyone as much as I love Riaan. That love propelled me into an unfamiliar research ecosystem, into conversations with scientists, clinicians, and manufacturers, with a confidence and authority I never could have imagined. When I was pregnant with Riaan, I met this kind, older woman in a candle shop at the Atlanta airport. We bonded, and she told me she always knew and understood babies, long before anyone else. Touching my belly, she said: "This one is special, this one is going to change the world." I think she was right. Aside from the gene therapy, Riaan has brought tremendous, unbelievable joy to everyone, near and far. Our family has had the best six years together. We're happy. I want people to understand that ours isn't a story of suffering or tragedy. It's a story of unconditional love and faith.
Question: Was there a moment when your role shifted from being “just a mom” to becoming an advocate, organizer, and builder of something much bigger?
Kaur: Yes. The second he was diagnosed, I realized I was not enough. I needed to do more, to make the world worthy of him, to give him a chance at the life he deserved. I had been gifted the most radiant, precious child. There was no way we were going down without a fight, no matter what disease he had.
Question: What do people often misunderstand about why patient families create foundations in the first place?
Kaur: We don’t know where we’re going, and not all of us will succeed. But by laying a foundation, literally speaking, we’re changing the trajectory. That alone is worth supporting. It’s not only for our own child, though they deserve access to treatments too. It’s for something bigger: the next child, the next family, the next disease community. Patient family founders do this hard work solely out of love, and love drives change better than anything else in the known universe. We wear our hearts on our sleeves and have no hidden agenda. You know exactly who you're working with and supporting.
Patient family founders do this hard work solely out of love, and love drives change better than anything else in the known universe.
Question: How do families bring a different kind of leadership to the progress of rare disease therapy?
Kaur: We are fearless because our fuel is love. Parents will move mountains for their children. We will initiate, we will push, we will question, and we will problem-solve. We are not constrained by the same assumptions about what is possible, because for us, this is life and death. Who wouldn’t want that perspective at the table?
Question: You’ve advocated for patient families to have a “seat at the table” during manufacturing. What does that look like in practice, and what perspectives do families bring that others may not see?
Kaur: In practice, it means including families in major discussions about manufacturing challenges, timelines, and decision-making, rather than treating them as passive observers. Talk to the technical experts but talk to us too. We also bring the perspective that there’s no redo. We only have one chance, and we have to get it right. The millions of dollars we struggle to raise are as precious as a glass of water while lost in the desert. Once we spend those funds, that’s it.
For instance, our family is a single-income family living in New York City. My husband is a public-school teacher, and I became a full-time caregiver for Riaan while volunteering with the Riaan Research Initiative. Sometimes, Richie and I would sit around the dinner table, feeling the absurdity of sending a half-million-dollar check to an academic institution in the morning while wondering that evening whether we could pay our own bills.
We used our savings and retirement plans to give Riaan and his little brother, Jivan, the best life we could. We stopped planning for homeownership or some distant future. Like many other families, we sacrificed a great deal to raise the funds needed to build this treatment. We’re not a company that can close up shop and emerge somewhere else. Our children don’t have the time, and our foundations don’t have unlimited resources. It’s a perspective worth having in the room.
Question: What does true partnership look like between a manufacturer and a patient foundation?
Kaur: A true partnership involves transparency, accountability, and a willingness to work together to solve problems. It also means being open to inviting independent CMC experts into the process when needed and to have honest conversations about establishing a productive working relationship. No one sets out to be a roadblock.
Question: How can technical teams explain progress, setbacks, or uncertainty in a way that respects families without overwhelming them?
Kaur: One thing I've found helpful is distinguishing between expected and unexpected deviations. For most of us, this is our first exposure to GMP manufacturing. Has this deviation happened before? How was it addressed? Is there a protocol? What's the timeline? Does it affect the product's safety? Strong answers to these questions help families understand manufacturing challenges without unnecessary confusion.
Question: What kind of communication from a manufacturing partner builds the most trust for you throughout the process?
Kaur: Transparency, through and through. We can handle bad news. The worst news we received was our child's diagnosis. By entering this work, we've already accepted that we're in constant problem-solving mode. We want honesty, a somber evaluation of the situation, and a partnership that understands and values our limited resources and time. Tell us what happened, tell us what you're doing to fix it, and we'll work alongside you to get there.
Question: When you think about the progress made through the Riaan Research Initiative, what does meaningful progress look like beyond timelines and milestones?
Kaur: Meaningful progress is hope becoming tangible. It's watching scientists who had never heard of Cockayne syndrome become invested in our children. It's families finding one another instead of feeling alone. It's about building infrastructure that will outlive us and continuing to push for next-generation treatments. Whether or not every effort succeeds, we've changed what's possible. No family starting this journey today is starting where we started, and that's progress.
Question: What is your hope for the next family that may start a foundation?
Kaur: I know they’re desperate, and I understand that desperation. But I think every family starting should pause and try to understand the landscape before committing to a treatment path. Talk to as many foundations, academics, clinicians, manufacturers, and others in the field as they can. Take notes on these conversations, and trust their intuition. Build the right team from the very beginning and use funds strategically. Drug development can’t happen sequentially; they have to map out the entire chessboard from day one if they really want to get it right. Science matters, but scientific expertise does not always equate to mastery of regulatory or drug development. Choose collaborators who value urgency, humility, intellectual honesty, dedication to children living with rare diseases, and respect for everyone on the team. The right team will take families farther and faster than they imagined.
Advancing Therapies Through Partnership
Patient-founded organizations like the Riaan Research Initiative play a critical role in advancing rare disease research and bringing communities together around a shared mission. Their leadership, persistence, and experience help drive progress for patients and families who cannot afford to wait.
Visit Riaan Research Initiative to learn more.
Families navigating a rare disease diagnosis can also explore Andelyn’s Rare Disease Toolkit for resources, guidance, and support.
This is the first post in Andelyn’s blog series featuring Q&A interviews with patient foundations to showcase their missions and the impact they are making. We are honored to start the series with the Riaan Research Initiative.
About Riaan Research Initiative
The Riaan Research Initiative is a 501(c)(3) nonprofit organization founded to accelerate and fund the development of treatments for Cockayne syndrome. Riaan has become the first child treated with gene therapy for Cockayne syndrome. He received an AAV9 gene therapy via an ICV neurosurgical procedure. It has been seven weeks since dosing. He's remained clinically stable, and is doing well.
About Cockayne Syndrome
Cockayne syndrome is a complex, multisystem disorder caused by defects in DNA transcription and repair. The disease progresses relentlessly, leading to neurodegeneration, vision and hearing loss, global developmental delays, growth failure, ataxia, and tremors. It is also ultra-rare, affecting only a few hundred children and adults worldwide. Children with Cockayne syndrome often die from respiratory complications and/or kidney failure.
Interview with Jo Kaur, Founder and Chair, Riaan Research Initiative
Jo Kaur founded the Riaan Research Initiative to transform the landscape for children like her son, Riaan. In this interview, she shares her family’s journey, the critical role patient foundations play in advancing therapies, and what true partnership in rare disease drug development looks like.
Question: For people meeting you and Riaan for the first time, what do you most want them to understand about your family’s journey?
Kaur: I want them to understand that this is a love story. I've never loved anyone as much as I love Riaan. That love propelled me into an unfamiliar research ecosystem, into conversations with scientists, clinicians, and manufacturers, with a confidence and authority I never could have imagined. When I was pregnant with Riaan, I met this kind, older woman in a candle shop at the Atlanta airport. We bonded, and she told me she always knew and understood babies, long before anyone else. Touching my belly, she said: "This one is special, this one is going to change the world." I think she was right. Aside from the gene therapy, Riaan has brought tremendous, unbelievable joy to everyone, near and far. Our family has had the best six years together. We're happy. I want people to understand that ours isn't a story of suffering or tragedy. It's a story of unconditional love and faith.
Question: Was there a moment when your role shifted from being “just a mom” to becoming an advocate, organizer, and builder of something much bigger?
Kaur: Yes. The second he was diagnosed, I realized I was not enough. I needed to do more, to make the world worthy of him, to give him a chance at the life he deserved. I had been gifted the most radiant, precious child. There was no way we were going down without a fight, no matter what disease he had.
Question: What do people often misunderstand about why patient families create foundations in the first place?
Kaur: We don’t know where we’re going, and not all of us will succeed. But by laying a foundation, literally speaking, we’re changing the trajectory. That alone is worth supporting. It’s not only for our own child, though they deserve access to treatments too. It’s for something bigger: the next child, the next family, the next disease community. Patient family founders do this hard work solely out of love, and love drives change better than anything else in the known universe. We wear our hearts on our sleeves and have no hidden agenda. You know exactly who you're working with and supporting.
Patient family founders do this hard work solely out of love, and love drives change better than anything else in the known universe.
Question: How do families bring a different kind of leadership to the progress of rare disease therapy?
Kaur: We are fearless because our fuel is love. Parents will move mountains for their children. We will initiate, we will push, we will question, and we will problem-solve. We are not constrained by the same assumptions about what is possible, because for us, this is life and death. Who wouldn’t want that perspective at the table?
Question: You’ve advocated for patient families to have a “seat at the table” during manufacturing. What does that look like in practice, and what perspectives do families bring that others may not see?
Kaur: In practice, it means including families in major discussions about manufacturing challenges, timelines, and decision-making, rather than treating them as passive observers. Talk to the technical experts but talk to us too. We also bring the perspective that there’s no redo. We only have one chance, and we have to get it right. The millions of dollars we struggle to raise are as precious as a glass of water while lost in the desert. Once we spend those funds, that’s it.
For instance, our family is a single-income family living in New York City. My husband is a public-school teacher, and I became a full-time caregiver for Riaan while volunteering with the Riaan Research Initiative. Sometimes, Richie and I would sit around the dinner table, feeling the absurdity of sending a half-million-dollar check to an academic institution in the morning while wondering that evening whether we could pay our own bills.
We used our savings and retirement plans to give Riaan and his little brother, Jivan, the best life we could. We stopped planning for homeownership or some distant future. Like many other families, we sacrificed a great deal to raise the funds needed to build this treatment. We’re not a company that can close up shop and emerge somewhere else. Our children don’t have the time, and our foundations don’t have unlimited resources. It’s a perspective worth having in the room.
Question: What does true partnership look like between a manufacturer and a patient foundation?
Kaur: A true partnership involves transparency, accountability, and a willingness to work together to solve problems. It also means being open to inviting independent CMC experts into the process when needed and to have honest conversations about establishing a productive working relationship. No one sets out to be a roadblock.
Question: How can technical teams explain progress, setbacks, or uncertainty in a way that respects families without overwhelming them?
Kaur: One thing I've found helpful is distinguishing between expected and unexpected deviations. For most of us, this is our first exposure to GMP manufacturing. Has this deviation happened before? How was it addressed? Is there a protocol? What's the timeline? Does it affect the product's safety? Strong answers to these questions help families understand manufacturing challenges without unnecessary confusion.
Question: What kind of communication from a manufacturing partner builds the most trust for you throughout the process?
Kaur: Transparency, through and through. We can handle bad news. The worst news we received was our child's diagnosis. By entering this work, we've already accepted that we're in constant problem-solving mode. We want honesty, a somber evaluation of the situation, and a partnership that understands and values our limited resources and time. Tell us what happened, tell us what you're doing to fix it, and we'll work alongside you to get there.
Question: When you think about the progress made through the Riaan Research Initiative, what does meaningful progress look like beyond timelines and milestones?
Kaur: Meaningful progress is hope becoming tangible. It's watching scientists who had never heard of Cockayne syndrome become invested in our children. It's families finding one another instead of feeling alone. It's about building infrastructure that will outlive us and continuing to push for next-generation treatments. Whether or not every effort succeeds, we've changed what's possible. No family starting this journey today is starting where we started, and that's progress.
Question: What is your hope for the next family that may start a foundation?
Kaur: I know they’re desperate, and I understand that desperation. But I think every family starting should pause and try to understand the landscape before committing to a treatment path. Talk to as many foundations, academics, clinicians, manufacturers, and others in the field as they can. Take notes on these conversations, and trust their intuition. Build the right team from the very beginning and use funds strategically. Drug development can’t happen sequentially; they have to map out the entire chessboard from day one if they really want to get it right. Science matters, but scientific expertise does not always equate to mastery of regulatory or drug development. Choose collaborators who value urgency, humility, intellectual honesty, dedication to children living with rare diseases, and respect for everyone on the team. The right team will take families farther and faster than they imagined.
Advancing Therapies Through Partnership
Patient-founded organizations like the Riaan Research Initiative play a critical role in advancing rare disease research and bringing communities together around a shared mission. Their leadership, persistence, and experience help drive progress for patients and families who cannot afford to wait.
Visit Riaan Research Initiative to learn more.
Families navigating a rare disease diagnosis can also explore Andelyn’s Rare Disease Toolkit for resources, guidance, and support.
