Podcasts about ataxia research alliance

In this episode of the Brain & Life podcast, co-host Dr. Katy Peters is joined by Helen Kearney, a dressage rider from Ireland who competed in the 2021 Paralympics. Helen shares about her Friedreich's Ataxia diagnosis, how she connects with her horse, and her Paralympic experience. Dr. Peters is then joined by Dr. Sub Subramony, a board-certified neurologist and neuromuscular medicine specialist at the Norman Fixel Institute for Neurological Diseases at University of Florida. Dr. Subramony explains what Friedreich's Ataxia is, how it is diagnosed and treated, and what the future looks like for patients and their families.   Additional Resources Meet Six Paralympians Preparing for the 2024 Paris Games What is ataxia and cerebellar or spinocerebellar degeneration? New Research Gives Hope to Patients with Inherited Ataxias Friedreich's Ataxia Research Alliance   Other Brain & Life Episodes on this Topic Paralympian Jamal Hill on Winning Bronze with Charcot-Marie-Tooth Olympic Swimmer Rowdy Gaines on His Career and Guillain-Barré Syndrome BMX Athlete Josh Perry's Perseverance Living with Brain Tumors   We want to hear from you! Have a question or want to hear a topic featured on the Brain & Life Podcast? ·       Record a voicemail at 612-928-6206 ·       Email us at BLpodcast@brainandlife.org   Social Media:   Guests: Helen Kearney @HelenKearneyIRL; Dr. Sub Subramony @fixelinstitute Hosts: Dr. Daniel Correa @neurodrcorrea; Dr. Katy Peters @KatyPetersMDPhD  

Nolan Townsend, CEO of Lexeo Therapeutics, and Jen Farmer, CEO of FARA, the Friedreich's Ataxia Research Alliance, are working together to better understand and treat Friedreich's Ataxia. This rare genetic condition includes cardiomyopathy and scoliosis. Lexeo Therapeutics is studying gene therapy as a potential treatment for the cardiovascular component of the disease. The Friedreich's Ataxia Research Alliance (FARA) plays a role in funding research, understanding the natural history of the disease, and advocating for treatments. Nolan explains, "For most patients in Friedreich's ataxia, cardiovascular disease becomes a very challenging component of the pathology, and it is what's called a hypertrophic cardiomyopathy phenocopy. So, it mimics hypertrophic cardiomyopathy, which is a thickening of the heart wall. And that typically progresses as well, which, for many patients, ends up being the cause of mortality associated with the disease. This pathology does appear to be amenable to treatment approaches like gene therapy, and it's one that we're working on here at Lexeo."  Jen elaborates, "As Nolan mentioned, it's caused by mutations in a gene called FXN, and the mutation in the gene causes a silencing of the gene. So, individuals with FA have what we call frataxin deficiency. And frataxin is a highly conserved protein that is important in lots of different cells, which is why the disease affects multiple organ systems. So, while it's a genetic disease, it's this protein deficiency that causes the pathology within the cell. The cells just don't make enough energy and don't function properly, and that's what contributes to the underlying cause of the disease." #FriedreichsAtaxia #CureFA #FAAwarenessMonth #FAAwarenessDay #RareDiseases  LexeoTX.com CureFA.org Listen to the podcast here  

Nolan Townsend, CEO of Lexeo Therapeutics, and Jen Farmer, CEO of FARA, the Friedreich's Ataxia Research Alliance, are working together to better understand and treat Friedreich's Ataxia. This rare genetic condition includes cardiomyopathy and scoliosis. Lexeo Therapeutics is studying gene therapy as a potential treatment for the cardiovascular component of the disease. The Friedreich's Ataxia Research Alliance (FARA) plays a role in funding research, understanding the natural history of the disease, and advocating for treatments. Nolan explains, "For most patients in Friedreich's ataxia, cardiovascular disease becomes a very challenging component of the pathology, and it is what's called a hypertrophic cardiomyopathy phenocopy. So, it mimics hypertrophic cardiomyopathy, which is a thickening of the heart wall. And that typically progresses as well, which, for many patients, ends up being the cause of mortality associated with the disease. This pathology does appear to be amenable to treatment approaches like gene therapy, and it's one that we're working on here at Lexeo." Jen elaborates, "As Nolan mentioned, it's caused by mutations in a gene called FXN, and the mutation in the gene causes a silencing of the gene. So, individuals with FA have what we call frataxin deficiency. And frataxin is a highly conserved protein that is important in lots of different cells, which is why the disease affects multiple organ systems. So, while it's a genetic disease, it's this protein deficiency that causes the pathology within the cell. The cells just don't make enough energy and don't function properly, and that's what contributes to the underlying cause of the disease." #FriedreichsAtaxia #CureFA #FAAwarenessMonth #FAAwarenessDay #RareDiseases  LexeoTX.com CureFA.org Download the transcript here  

We spoke with Jack DeWitt of Howell, who is organizing a fundraiser on 3/17 for FARA, the Friedreich's Ataxia Research Alliance. Get details at - https://give.curefa.org/event/100-days-til-summer/e459735 We also covered liver spots, embarrassing middle names and what celebrity body parts we would like to have.

Today on the Dads with Daughters Podcast I spoke with Jay Armstrong, a father of three who is fighting a rare, degenerative brain disease while working to be the best dad he can be. We talk about fatherhood, living with this disease, but also about the legacy that he is working to leave for his kids. As a part of this legacy, we talk about the new book he just released this month, Bedtime Stories for the Living.  About the Book If you live with a rare life altering disease, you spend a lot of time in your head. It's hard to put the thoughts into words. In Bedtime Stories for the Living, Jay Armstrong accurately articulates the thoughts of any person living with a rare disease or anyone simply struggling to overcome their challenges.” Kyle Bryant, spokesperson for the Friedreich's Ataxia Research Alliance and host of the Two Disabled Dudes podcast. A regular dad. A rare brain disease. A chance to live forever. A cell phone's ring interrupts the silence as Jay Armstrong sits in his high school classroom preparing for the year ahead. Something about the ring makes his stomach drop. It's his doctor. The words, “diffuse cerebellar atrophy, a rare, degenerative brain disease” float through the speaker. All of Jay's youthful dreams of being a writer rush back, flooding the twenty years he has spent teaching students how to appreciate novels, memoirs, and poetry. The care he put into teaching them how to write with clarity, insight, and humor, and how to dance at the prom. The bedtime stories he never told his children spin in his imagination. It will all die when he dies. Bedtime Stories for the Living is an episodic memoir in which Jay shows his children how to accept their limitations and find joy. The collection of tender, witty stories about fatherhood, persevering despite illness, and pursuing your dreams, demonstrates how love gives us the strength to face heartache with bravery, humor, and grace. If you've enjoyed today's episode of the Dads With Daughters podcast we invite you to check out the Fatherhood Insider. The Fatherhood Insider is the essential resource for any dad that wants to be the best dad that he can be. We know that no child comes with an instruction manual and most are figuring it out as they go along. The Fatherhood Insider is full of valuable resources and information that will up your game on fatherhood. Through our extensive course library, an interactive forum, step-by-step roadmaps, and more you will engage and learn with experts but more importantly with dads like you. So check it out today!

We on the 2 Disabled Dudes team want to wish everyone a Happy New Year! We are excited to be able to give you this episode, our 58th! (to quote Kyle, “Holy cow! I love it!”) We know that we owe a tremendous thank you to you, our listeners, for allowing us to keep going. Without you, this podcast wouldn’t exist! We reflect on what stands out to us in producing this podcast over the past year… Kyle, eager to share his thoughts first, reflects on the two-part episodes that we produced for the first time this year. Releasing two episodes on one day was a new action for us, and it has had very positive results. Sean remembers the time that he and Kyle met in Denver for a few days on the unofficial Two Disabled Dudes retreat. It was a great time to hang out and discuss the future of the podcast. We also want to call attention to the Two Disabled Dudes store. We were excited to release that this year and provide merch to our listeners! Special thanks this year goes out to Jake Tompkins, our audio producer, and Matt Lafleur who wrote all of this except these very words because he is too humble. We couldn’t do this without you guys and all of your hard work! We also give our personal reflections on 2018. Kyle reflects on his work with the Friedreich’s Ataxia Research Alliance, especially with rideATAXIA, his program that raised over $1 million this year. Special thanks to Jamie Young! Sean reflects on the couple of days the Dudes were able to spend at Reata Pharmaceuticals - just one of the partners in moving the research needle forward. Sean's personal subjects aren’t exciting enough to mention here :-) We looking forward to being in your ears next year in 2019!

It's summertime! How do you find silence amidst the droning of cicadas or locusts? What does it mean to be silent during the electric crackle of a late afternoon thunderstorm? How do we maintain our commitment to silence when we're juggling family vacations, back to school to-do lists, or even more lasting and significant life transitions? We have this myth that summer is a laid-back time, but often we find it carries its own intensity. Where do we find silence then? In the middle of this change... the silence really stirs up a lot. So it helps me to find a balance, a rhythm, but it also doesn't allow me to run away from the fear, or the joy, or anything else. It's right there in my face. — Kevin Johnson Cassidy shares a provocative quote from an essay by Mary Oliver in which she talks about how poetry needs to "rest in intensity," and uses this as her metaphor for navigating a very busy summer — a summer which she describes as being like a poem. Kevin finds his summer to be both joyful and yet poignant, as one of his daughters prepares to go away to college for the first time. And yet this has been a time for him to find a new connection to his own practice of silence, and how an embodied sense of silence has felt like a friend reassuring him that everything is okay. Carl, meanwhile explores how his relationship with silence this summer has been supported by two endeavors beyond his daily meditation practice: taking yoga classes with his wife, and writing poetry... just for joy. I'm trying to look at my summer as a poem... just keep moving forward, just keep plugging away, but finding those pauses that often become shorter in times like this, that often become just the gaze out the window, or just the long stare into the coffee cup. — Cassidy Hall We finish this episode with each member of the team briefly recounting the books we've been reading — and even share some insight into the t-shirts we were wearing the day we recorded this episode!     The silence is always there. And the question is, to what extent are we listening to it, or are we listening to whatever else is going on? — Carl McColman Some of the resources and authors mentioned in this episode: Mary Oliver, Winter Hours: Prose, Prose Poems, and Poetry Thich Nhat Hanh, Peace is Every Step Thich Nhat Hanh, Peace is Every Breath Simone Weil, Love in the Void: Where God Finds Us Parker Palmer, Let Your Life Speak: Listening to the Voice of Vocation Austin Channing Brown, I'm Still Here: Black Dignity in a World Made for Whiteness Henry David Thoreau, Civil Disobedience and Other Essays Anthony Storr, Solitude: A Return to the Self Lewis Hyde, The Gift: Creativity and the Artist in the Modern World Owen Barfield, Saving the Appearances J. R. R. Tolkien, The Lord of the Rings C. S. Lewis, The Signature Classics Charles Williams, Outline of Romantic Theology Mary Oliver, Devotions: The Selected Poems Michael Pollan, How to Change Your Mind: What the New Science of Psychedelics Teaches Us About Consciousness, Dying, Addiction, Depression, and Transcendence Michael Pollan, The Omnivore's Dilemma Carlos Castaneda, Alan Watts, Timothy Leary, Joel F. Harrington, Dangerous Mystic: Meister Eckhart's Path to the God Within Daniel Horan, The Franciscan Heart of Thomas Merton Cassidy talks about fundraising for research to help fight the degenerative disease Friedreich's Ataxia. To learn more about this disease and to contribute to the fight against it, visit the Friedreich's Ataxia Research Alliance website, www.curefa.org. And finally, here is a glimpse of some of the handpainted silk scarves created by Fran McColman. These aren't for sale (yet) — but stay tuned! Episode 31: Silence in the Summertime Hosted by: Carl McColman With: Cassidy Hall, Kevin Johnson Date Recorded: August 9, 2018

It's summertime! How do you find silence amidst the droning of cicadas or locusts? What does it mean to be silent during the electric crackle of a late afternoon thunderstorm? How do we maintain our commitment to silence when we're juggling family vacations, back to school to-do lists, or even more lasting and significant life transitions? We have this myth that summer is a laid-back time, but often we find it carries its own intensity. Where do we find silence then? In the middle of this change... the silence really stirs up a lot. So it helps me to find a balance, a rhythm, but it also doesn't allow me to run away from the fear, or the joy, or anything else. It's right there in my face. — Kevin Johnson Cassidy shares a provocative quote from an essay by Mary Oliver in which she talks about how poetry needs to "rest in intensity," and uses this as her metaphor for navigating a very busy summer — a summer which she describes as being like a poem. Kevin finds his summer to be both joyful and yet poignant, as one of his daughters prepares to go away to college for the first time. And yet this has been a time for him to find a new connection to his own practice of silence, and how an embodied sense of silence has felt like a friend reassuring him that everything is okay. Carl, meanwhile explores how his relationship with silence this summer has been supported by two endeavors beyond his daily meditation practice: taking yoga classes with his wife, and writing poetry... just for joy. I'm trying to look at my summer as a poem... just keep moving forward, just keep plugging away, but finding those pauses that often become shorter in times like this, that often become just the gaze out the window, or just the long stare into the coffee cup. — Cassidy Hall We finish this episode with each member of the team briefly recounting the books we've been reading — and even share some insight into the t-shirts we were wearing the day we recorded this episode!     The silence is always there. And the question is, to what extent are we listening to it, or are we listening to whatever else is going on? — Carl McColman Some of the resources and authors mentioned in this episode: Mary Oliver, Winter Hours: Prose, Prose Poems, and Poetry Thich Nhat Hanh, Peace is Every Step Thich Nhat Hanh, Peace is Every Breath Simone Weil, Love in the Void: Where God Finds Us Parker Palmer, Let Your Life Speak: Listening to the Voice of Vocation Austin Channing Brown, I'm Still Here: Black Dignity in a World Made for Whiteness Henry David Thoreau, Civil Disobedience and Other Essays Anthony Storr, Solitude: A Return to the Self Lewis Hyde, The Gift: Creativity and the Artist in the Modern World Owen Barfield, Saving the Appearances J. R. R. Tolkien, The Lord of the Rings C. S. Lewis, The Signature Classics Charles Williams, Outline of Romantic Theology Mary Oliver, Devotions: The Selected Poems Michael Pollan, How to Change Your Mind: What the New Science of Psychedelics Teaches Us About Consciousness, Dying, Addiction, Depression, and Transcendence Michael Pollan, The Omnivore's Dilemma Carlos Castaneda, Alan Watts, Timothy Leary, Joel F. Harrington, Dangerous Mystic: Meister Eckhart's Path to the God Within Daniel Horan, The Franciscan Heart of Thomas Merton Cassidy talks about fundraising for research to help fight the degenerative disease Friedreich's Ataxia. To learn more about this disease and to contribute to the fight against it, visit the Friedreich's Ataxia Research Alliance website, www.curefa.org. And finally, here is a glimpse of some of the handpainted silk scarves crea...

As promised, here is the second half of our interview with Ron Bartek, president and cofounder of the Friedreich's Ataxia Research Alliance, or FARA. Please note that the audio quality is less than ideal, but still definitely enjoyable. Along with Ron's very impressive resume, we found out that he learned to sleep standing up in Army Ranger School. Ron discovered much of what the body could do when deprived of normal physical needs like sleep and food. Ron shares about the experience of his son Keith's diagnosis with Friedreich's ataxia at nine-years-old. A counselor who noticed Keith's problems with balance and coordination recommended that Keith go to a neurologist for a check-up. At that appointment few months later, Ron and his wife Raychel were told that Keith had Friedreich's ataxia (FA), a condition they'd never heard of and couldn't even spell. When they asked what they could do about this diagnosis, the neurologist gave a grim answer - nothing. To Ron and Raychel that was not an acceptable answer so they began researching FA on their home computer. They learned about all the symptoms of the disorder, and all of their research was very disheartening. However there was one piece of good news - the year prior (this was in 1997), scientists discovered the specific gene that caused FA. Ron and Raychel believed that since the gene was identified, it would be much easier to find a treatment or a cure, but that there was no organization that specifically researched FA. They decided they would change that. Ron, Raychel, 5 other parents of children with FA, 1 adult patient, and 3 scientists submitted paperwork to the District of Columbia to initiate FARA and become its first board of directors. One of FARA's first actions was the submittal of a proposal to the NIH for the first scientific conference on Friedreich's ataxia. Four months later, the grant was funded by the NIH, and six months later, that conference was held for people allover the world to attend. Important to note is at that first conference, no drug company wanted to attend (because it's too rare, they said) and no clinical trials for FA was ever done. Today, multiple drug companies are aligned with FARA. And they are hopeful for a cure. The source of FARA's success can be summed up in one word: collaboration. Knowing that FA exists as a rare genetic anomaly is a boring statistic, but meeting FA patients, seeing their strengths and weaknesses, getting to know them - helps to bring out the humanity of those who live with FA.That humanity is central to what FARA is, and who Ron is. Whether he is partnering with a group of scientists and drug companies or following the two stripes on the soldier's hat in front of him, Ron Bartek recognizes that our strength is found in our ability to collaborate with others.

As promised, here is the second half of our interview with Ron Bartek, president and cofounder of the Friedreich’s Ataxia Research Alliance, or FARA. Please note that the audio quality is less than ideal, but still definitely enjoyable. Along with Ron’s very impressive resume, we found out that he learned to sleep standing up in Army Ranger School. Ron discovered much of what the body could do when deprived of normal physical needs like sleep and food. Ron shares about the experience of his son Keith’s diagnosis with Friedreich’s ataxia at nine-years-old. A counselor who noticed Keith’s problems with balance and coordination recommended that Keith go to a neurologist for a check-up. At that appointment few months later, Ron and his wife Raychel were told that Keith had Friedreich’s ataxia (FA), a condition they’d never heard of and couldn’t even spell. When they asked what they could do about this diagnosis, the neurologist gave a grim answer - nothing.   To Ron and Raychel that was not an acceptable answer so they began researching FA on their home computer. They learned about all the symptoms of the disorder, and all of their research was very disheartening. However there was one piece of good news - the year prior (this was in 1997), scientists discovered the specific gene that caused FA. Ron and Raychel believed that since the gene was identified, it would be much easier to find a treatment or a cure, but that there was no organization that specifically researched FA. They decided they would change that.   Ron, Raychel, 5 other parents of children with FA, 1 adult patient, and 3 scientists submitted paperwork to the District of Columbia to initiate FARA and become its first board of directors. One of FARA’s first actions was the submittal of a proposal to the NIH for the first scientific conference on Friedreich’s ataxia. Four months later, the grant was funded by the NIH, and six months later, that conference was held for people allover the world to attend.   Important to note is at that first conference, no drug company wanted to attend (because it’s too rare, they said) and no clinical trials for FA was ever done. Today, multiple drug companies are aligned with FARA. And they are hopeful for a cure. The source of FARA’s success can be summed up in one word: collaboration. Knowing that FA exists as a rare genetic anomaly is a boring statistic, but meeting FA patients, seeing their strengths and weaknesses, getting to know them - helps to bring out the humanity of those who live with FA.That humanity is central to what FARA is, and who Ron is. Whether he is partnering with a group of scientists and drug companies or following the two stripes on the soldier’s hat in front of him, Ron Bartek recognizes that our strength is found in our ability to collaborate with others.

We are honored to interview Ron Bartek, president and co-founder of the Friedreich's Ataxia Research Alliance, or FARA. Since both of us have FA, this organization and Ron himself are special to us. In a word, Ron is a peacemaker. Kyle starts off by reading Ron's long and impressive bio.. Of special note to Ron is that he was able to be a part of the negotiation team for the Intermediate-Range Nuclear Forces (INF) Treaty between The United States and The Soviet Union. As a school kid, Ron dreamed of being able to know enough about global superpowers that he would be able to help orchestrate peace between the US and the Soviet Union. After an impressive military career, he was a part of the INF Treaty, which helped put an end to the Cold War. Shortly after that treaty was signed, Ron's son was diagnosed with the rare disorder Friedreich's ataxia (FA). Suddenly the world of the rare disease community opened up to him, and he decided to use his ample peacemaking skills in the fight against FA.

In the rare disease community, strength is in unity and supporting one another. February 28th is globally recognized as Rare Disease Day. Since Friedreich's ataxia, the disease shared by us  Dudes, is considered a rare disease, five episodes will come out in February, instead of one episode every other week, as normal. We explain what is meant by “rare diseases” and how rare they really are. This episode contains snippets of three interviews that will be released in their entirety later in the month. Nicole Boice, the CEO of Global Genes, speaks about the importance of knowledge in the rare disease community; only by knowing all we can about whatever disorder we may face can we successfully move forward. In the second snippet, Max Bronstein of the Everylife Foundation for Rare Diseases reminds us of the importance of policy issues when seeking treatments for rare diseases. Finally Paul Melmeyer from the National Organization of Rare Disorders (NORD) emphasizes the benefits of recognizing Rare Disease Day, and what that has done for the rare disease community overall. On February 27, the day before Rare Disease Day, our interview with Ron Bartek, the president and cofounder of the Friedreich's Ataxia Research Alliance, will be released. The Two Disabled Dudes invite you to help us spread awareness this month.

In the rare disease community, strength is in unity and supporting one another. Image courtesy of debra February 28th is globally recognized as Rare Disease Day. Since Friedreich’s ataxia (FA), the disease shared by us Dudes, is considered a rare disease, five episodes will come out in February, instead of one episode every other week, as normal.   In this episode we talk about what is meant by “rare diseases” and how rare they really are. This episode contains snippets of three interviews that will be released in their entirety later in the month. Nicole Boice, the CEO of Global Genes, speaks about the importance of knowledge in the rare disease community; only by knowing all we can about whatever disorder we may face can we successfully move forward. In the second snippet, Max Bronstein of the Everylife Foundation for Rare Diseases reminds us of the importance of policy issues when seeking treatments for rare diseases. Finally Paul Melmeyer from the National Organization of Rare Disorders (NORD) emphasizes the benefits of recognizing Rare Disease Day, and what that has done for the rare disease community overall.   On February 27, the day before Rare Disease Day, our interview with Ron Bartek, President and co-founder of the Friedreich’s Ataxia Research Alliance, will be released.   The Two Disabled Dudes invite you to help us spread awareness this month.   Organizations Highlighted in This Episode:   Global Genes - globalgenes.org   EveryLife Foundation for Rare Diseases - everylifefoundation.org   National Organization for Rare Disorders - rarediseases.org   Friedreich's Ataxia Research Alliance (FARA) - curefa.org