Podcasts about ataxia research alliance fara

My guest today on the Online for Authors podcast is Jennifer Gasner, author of the book, My Unexpected Life: Finding Balance Beyond My Diagnosis. Jennifer received her BA in English from the University of Wisconsin-Platteville and her MS in recreation from Western Illinois University. Her work with Independent Living Centers enabled her to learn about various disability programs throughout the country and ignited her passion for disability culture. She relocated to San Diego, California, on her own at the age of twenty-eight.   As a mentor for What's Next, a program for youth with disabilities, and as co-chair of UC San Diego's Staff Association for staff with disabilities, Jennifer solidified her role in the San Diego disability community. In 2020, Jennifer became an ambassador for the Friedreich's Ataxia Research Alliance (FARA), raising awareness about Friedreich's Ataxia (FA). She participated in Rare Across America, meeting with legislators to discuss laws affecting more than 25 million Americans living with one or more rare diseases.   Jennifer is a member of the San Diego Memoir Writers Association, and her writing has been published in Shaking the Tree, volumes 3 and 4. In her free time, she enjoys yoga, movies, and traveling. She lives with her boyfriend Gregory and their dog. My Unexpected Life is her first book.   In my book review, I stated My Unexpected Life is a memoir that takes an honest look at Jennifer's journey from diagnosis to embracing life with a disability. Jennifer has no qualms about showing the messy middle which includes denial and anger on her part, insensitivity on the part of family and friends, ableism culture in her school, community, and herself, and more. As a reader, you will want to both shake Jennifer and those around her, as well as cheer her on. You will learn what it's like to get potentially devastating news and how such news can affect everything you believe about life. In the end, you will learn that a disability doesn't have to define you. In fact, for Jennifer, her disability is just a small fraction of who she has become. Reading this book will help you shed light on your own ableist ideas and offer new ways of seeing those navigating life with a disability. I highly recommend this memoir.   You can follow Author Jennifer Gasner Website: https://jennifergasner.com/. IG: @jennygwriter FB: @AuthorJenniferGasner   Teri M Brown, Author and Podcast Host: https://www.terimbrown.com FB: @TeriMBrownAuthor IG: @terimbrown_author X: @terimbrown1   #jennifergasner #myunexpectedlife #memoir #disability #terimbrownauthor #authorpodcast #onlineforauthors #characterdriven #researchjunkie #awardwinningauthor #podcasthost #podcast #readerpodcast #bookpodcast #writerpodcast #author #books #goodreads #bookclub #fiction #writer #bookreview

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  

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  

In this insightful interview with Jen Farmer, CEO of the Friedreich's Ataxia Research Alliance (FARA), we explore the evolving landscape of rare disease research and the journey towards treatments for Friedreich's ataxia (FA). Jen shares her experiences and challenges as a leader in the field, emphasizing the importance of community involvement and collaboration. Also in this episode: Sean travels to Vegas with a group of 30. Newsworthy: Viral ad challenges stereotypes about Down syndrome: ‘Assume I can drink a margarita' Thank you notes: Jakob in Austria and Kelly at The Venetian. Links and resources: Jen's Previous episodes: DD pt4: Why Sean Baumstark is Banned From Clinical Trials How a Mom Launched the First Drug Approval in FA Newsworthy music courtesy of Zapsplat.com  

As a clinical coordinator at Children's Hospital of Philadelphia (CHOP), Jen Farmer gained years of experience designing and operating clinical trials. Now as the CEO at the Friedreich's Ataxia Research Alliance (FARA) she uses that experience to design effective trials for the Friedreich's ataxia (FA) community - and she nicely puts Sean in his place when she states "the rules are there for your safety". Jen shares the principles that guide clinical trials and a few tips for those who choose to participate. FARA - curefa.org

As a clinical coordinator at Children's Hospital of Philadelphia (CHOP), Jen Farmer gained years of experience designing and operating clinical trials. Now as the CEO at the Friedreich's Ataxia Research Alliance (FARA) she uses that experience to design effective trials for the Friedreich's ataxia (FA) community - and she nicely puts Sean in his place when she states "the rules are there for your safety". Jen shares the principles that guide clinical trials and a few tips for those who choose to participate. FARA - curefa.org

This is the LAUNCH of the Two Disabled Dudes Drug Development Series.  We have 5 experts lined up to field our questions about the process and how we as patients can insert our influence. This episode is an overview of the Drug Development Process which helps us understand how to avoid spending half a billion dollars on a dead end. Barbara Tate is the Chief Scientific Officer for the Friedreich's Ataxia Research Alliance (FARA).  She has an impressive resume and a great sense of humor. She went from academic science, to big pharma, to venture capital, to nonprofit, and now she graciously shares her knowledge and wisdom with us.   Our next episode features John Crowley who is played by Brendan Fraser in the movie Extraordinary Measures. 

This is the LAUNCH of the Two Disabled Dudes Drug Development Series.  We have 5 experts lined up to field our questions about the process and how we as patients can insert our influence. This episode is an overview of the Drug Development Process which helps us understand how to avoid spending half a billion dollars on a dead end. Barbara Tate is the Chief Scientific Officer for the Friedreich's Ataxia Research Alliance (FARA).  She has an impressive resume and a great sense of humor. She went from academic science, to big pharma, to venture capital, to nonprofit, and now she graciously shares her knowledge and wisdom with us. Our next episode features John Crowley who is played by Brendan Fraser in the movie Extraordinary Measures. 

We welcome Kyle Bryant of the Friedreich’s Ataxia Research Alliance (FARA) to discuss his journey as a patient with Friedreich’s Ataxia (FA), as an active patient leader, and in his job as a liaison between the FA community and researchers. After being diagnosed with FA when only 17 years old, Kyle has dedicated his life to helping other people with FA and exemplifying the adage “Life is how we react to it!” He has reacted by becoming a long-distance bike rider, podcast host, author, and full-time patient advocate.  Kyle opens up about his drive to help others deal with the challenges of life with FA and other disorders. It started when he wrote a daily blog during his first big bike ride from San Diego to Memphis. The comments and responses to this blog made him realize “Oh my gosh, we can make a real impact” by giving people hope and community. It was life-changing for him. Kyle has a very healthy perspective on participation in clinical trials. He talks about his understanding that he may be just one small “mouse” in a study, but he can be the most powerful mouse that ever lived, an essential ingredient to make a drug a reality.   Kyle Bryant is the author of The Ataxian (https://smile.amazon.com/Ataxian-Sean-Baumstark/dp/B079YMBNGQ/ref=sr_1_1?keywords=The+Ataxian&qid=1570029801&sr=8-1) .  

Growing up in northern California, Kyle Bryant (https://kyleabryant.com/) loved being outside and being active. But, his late teens would change everything. He began experiencing a loss in balance, coordination and strength. A battery of doctors and tests eventually led to a diagnosis of Friedreich’s Ataxia (FA), a rare, progressive neuromuscular disease that currently has no treatment or cure. While grappling with this diagnosis and all it meant, Kyle discovered cycling, and, along with it, a new lease on freedom. He's now completed numerous ultra-distance rides including "The World's Toughest Bike Race", Race Across America in 2010, as part of 4-man Team FARA which is the subject of the documentary The Ataxian. He is the co-host of the Two Disabled Dudes Podcast and the author of a moving new memoir, Shifting Into High Gear (https://amzn.to/31R1QaR). Bryant is also the founder and director of the bicycle ride fundraiser, rideATAXIA for the Friedreich’s Ataxia Research Alliance (FARA). rideATAXIA is currently held annually in 6 locations and has raised over $7 million for Friedreich's ataxia (FA) research since 2007.Check out our offerings & partners: Peloton: Try the Peloton Bike in your home for 30 days. Free pick-up and a full return if you still aren’t certain the Peloton Bike is for you! Learn more about Peloton’s 30-Day Home Trial at onepeloton.com and use promo code GOODLIFE to get $100 off accessories with the purchase of a Peloton.ThirdLove: Go to ThirdLove.com/GOODLIFE now to find your perfect-fitting bra... and get 15% off your first purchase!Legacybox: There’s never been a better time to digitally preserve your memories. Go to Legacybox.com/GOODLIFE to get 40% off your first order.

Kyle Bryant is the founder and director of Ride Ataxia, a fundraising program of the Friedreich's Ataxia Research Alliance (FARA). This man's story of riding 2,500 miles in a recumbent trike is amazing! What is behind this personal story? Tune in and find out. It will not only touch your heart but make you realize that dreams can be fulfilled in the most unique and amazing ways.

“It’s a wonderful life; it’s just a different life.”   We interview Paul Avery, CEO of World of Beer; former COO of the parent company of Outback Steakhouse, father of two daughters diagnosed with Friedreich's ataxia (FA); and chair of the board of the Friedreich's Ataxia Research Alliance (FARA). The transition from being in the business of running successful restaurants to becoming forefront in the research and treatment of a rare disease was a sudden and unexpected change: but not a shift Paul hesitated to make. For him, his love for and concern of the well-being of his daughters, diagnosed with FA, made his decision to join the research and development of a treatment of FA a natural fit.   And in Paul’s willingness lies a lesson for all of us. We ourselves may not have a background in medicine, biology, or genetics. We may get overwhelmed at becoming part of whatever team is calling to us. But at some level, we all have something to contribute.   Paul was able to use his economic and negotiating skills to become a powerful voice in FARA. Not to mention the unbelievable benefits Outback Steakhouse and other companies under his influence have provided at FARA events.   What is your calling in life? Could the fact that your background seems unrelated to that be not a weakness, but a strength?   We want to thank Paul Avery for reminding us that strength and accomplishment comes from everyone bringing their diverse skills to the table.   Also mentioned in this episode: 2DD Challenges: https://twodisableddudes.com/2dd-challenges/ Instagram post by @texassmith: “We won't stand on the outside of our lives, looking in, wondering what it would be like if we had the courage to show up and be seen. We'll stand in front of the walls that tell our stories and show our scars. Those scars are a gift; they say, 'See, I’ve been there, and here I am still standing and you will too.' They become badges of honor, agents of healing. They become who we are.”

Tom Hamilton spent 25 years on Wall Street and when his daughter was diagnosed with Friedreich's ataxia (FA), he started using all his knowledge and expertise to fight Rare Disease.  Tom is on the Board of Directors for the Friedreich's Ataxia Research Alliance (FARA), he is a founding Board Member for Chondrial Therapeutics, he is Executive Producer of The Ataxian, and co-founder of the CureFA Foundation. It’s understandable that most of what we focus on in this podcast is meant to encourage those with disabilities. However, those with disabilities are not the only ones affected by them. In many ways, the effects of the diagnosis are felt severely by the parents of the patient. It’s important to recognize the support of parents of those with disabilities - and their own hardships.   Tom tells us about his journey of discovering his daughter has a rare debilitating disorder when she was nine, and how he felt obligated to use his own abilities to advance research for FA. He admits that he lacks medical or scientific knowledge, and he says that everyone listening may notice that they are lacking in certain areas necessary for research of rare disease. But he encourages everyone to instead focus on your strengths, and use your own talents in the effort to better the lives of people in whatever community is important to you.

Tom Hamilton spent 25 years on Wall Street and when his daughter was diagnosed with Friedreich's ataxia (FA), he started using all his knowledge and expertise to fight Rare Disease.  Tom is on the Board of Directors for the Friedreich's Ataxia Research Alliance (FARA), he is a founding Board Member for Chondrial Therapeutics, he is Executive Producer of The Ataxian, and co-founder of the CureFA Foundation.

We are honored to interview Ron Bartek, president and co-founder of the Friedreich’s Ataxia Research Alliance (FARA). Since both of us have Friedreich's ataxia (FA), this organization and Ron himself are special to us. Note: This episode has some audio imperfections. We still chose to release it, going against the advice of our audio producer. (You’re awesome, Jake.) So we give you the first half of our interview with Ron Bartek. The audio problems are slight, and sound like Kyle banging together two halves of a coconut every now and then. Picture that and we hope that you are able to enjoy this interview as much as we did. Part 2 of this interview comes out in March.   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 Keith 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 discussing the benefits of Rare Disease Day, Ron seemed almost giddy when he described it as the rare disease community being able to voice their opinions to those in charge of the fields of medical  research, such as the NIH or the FDA, “increasing the volume and frequency of the patient voice”.   Reaching out to the top medical institutes cannot be stressed enough,  says Ron. On June 2, FARA (in partnership with MDA and NAF) is planning a Patient Focused Drug Development Meeting with the FDA. The purpose of this meeting is to remind the FDA of the human quality of a rare disease that they may not hear much about, FA.  Patients will be able to participate in person or live, online - FARA will publish details on how to get involved.   Even though some people may see the FDA as a barrier to finding effective treatments or cures for rare disease, Ron is passionately against that idea. He sees FARA’s relationship with the FDA as one of our greatest assets. The goal of FARA and the goal of the FDA is the same - to find a safe and effective treatment and cure for FA. Rather than see the FDA as a barrier, Ron encourages us to see them as trusted teammates.   Whether dealing with The Soviet Union or the FDA, Ron shows the power of peacemaking. We are lucky to have him as a leader for us in the FA community.   REMEMBER THAT RARE DISEASE DAY IS FEBRUARY 28. MAKE YOUR VOICE HEARD!   “See you again, and see you at the finish-line.” -Ron Bartek

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

To learn more about Butterflies of Wisdom visit http://butterfliesofwisdom.weebly.com/ Be sure to FOLLOW this program https://itunes.apple.com/us/podcast/wins-women-of-wisdom/id1060801905. To find out how Win walk and about Ekso go to http://www.bridgingbionics.org/, or email Amanda Boxtel atamanda@bridgingbionics.org.   On Butterflies of Wisdom today, Best-Selling Author, Win Kelly Charles welcomes Kyle Bryant. Kyle was diagnosed with Friedreich’s ataxia (FA) at age seventeen and found that as the disease progressed he had to give up the sports so interwoven in his life growing up in Northern California; sports such as golf, baseball, basketball and football.  When Kyle's FA had progressed to a point where it became unsafe for him to continue riding his bike, he put a stop to the loss of the activity he cherished.  He took back control, purchased a recumbent trike, and resumed his riding with passion. Kyle started small with an initial ride of 7 miles.  However, fueled with a passion for pushing the limits and do more with his life Kyle built up to a century ride (100 mi in a day) within four months of his first ride.  Upon completion of his first time, he decided that the sky was the limit. In 2007 Kyle founded Ride Ataxia with a 2,500-mile 59-day ride from San Diego, CA to Memphis TN. The goal of the ride was to raise awareness and much-needed research funds for FA, a disease that has no treatment, no cure, no hope…until now. Kyle and Ride Ataxia did not stop in Memphis.  Kyle’s cycling feats include Sacramento to Las Vegas, NV, Portland, OR to Seattle, WA, and completion of Race Across America in which his four-man team finished the 3,000-mile race in 8 days, 8 hours, and 14 minutes. With his trike as the vehicle of change, Kyle took his hopeless situation of no treatment, no cure, no hope and turned it into an opportunity to do something great for himself and many others. In 2009 Kyle became the Spokesperson for the Friedreich’s Ataxia Research Alliance (FARA) in their mission to cure FA.  With Kyle as the program director, Ride Ataxia has become FARA’s Marquee fundraising event with challenging yet family friendly bike rides all over the USA – welcoming 2500 participants and raising $800,000 per year. To learn more about Kyle visithttp://kyleabryant.com/. To find out more about Win Kelly Charles visithttps://wincharles.wix.com/win-charles. Please send feedback to Win by email her at winwwow@gmail.com, or go to http://survey.libsyn.com/winwisdom andhttp://survey.libsyn.com/thebutterfly. To be on the show, please fill out the intake at http://bit.ly/1MLJSLG. To look at our sponsorships go tohttp://www.educents.com/daily-deals#wwow. To learn about the magic of Siri go to https://www.udemy.com/writing-a-book-using-siri/?utm_campaign=email&utm_source=sendgrid.com&utm_medium=email.