Podcasts about friedreich

HEALTH NEWS   Purslane Extract Tied to Improved Mood and Reduced Liver Stiffness in Trials, Researchers Say Natural Compound in Broccoli Could Help Treat a Rare, Incurable Neurological Disease Intermittent fasting reveals gut-brain pathway that may reduce chronic pain Microalga extract shows promise for fatigue through mitochondrial function Vitamin D Supplementation Tied to Slower Biological Aging, Studies Find         Purslane Extract Tied to Improved Mood and Reduced Liver Stiffness in Trials, Researchers Say Mashhad University of Medical Sciences (Iran), August 21 2026 (Natural News)     Purslane, a weed commonly found in garden beds and sidewalk cracks, has been linked in two clinical trials to improved mood and reduced liver stiffness. Purslane is an herbaceous succulent valued in many cultures for its vitamins, minerals, and antioxidants.   A trial published in the journal Health Science Reports enrolled adults with nonalcoholic fatty liver disease. Participants received either purslane extract or a placebo in addition to regular care. The report said those who received purslane showed reductions in stress and low mood compared with the placebo group, and researchers said the results warrant further investigation. In 2024, the same research team published a trial of patients with nonalcoholic fatty liver disease received 700 milligrams of purslane extract daily for eight weeks. According to the study, liver stiffness decreased significantly compared with placebo, and the hepatorenal ultrasound index, a direct measure of fat buildup in the liver, also improved.   Natural Compound in Broccoli Could Help Treat a Rare, Incurable Neurological Disease Swinburne University of Technology (Australia), August 21, 2026 (SciTech Daily)   A naturally occurring compound in broccoli is being investigated as a possible treatment for Friedreich ataxia, a rare nervous system disease. Research from Swinburne suggests the compound can act on biological processes involved in the condition. Friedreich ataxia develops as neurons in the brain and spinal cord deteriorate, progressively affecting movement, speech, and survival. The research found that sulforaphane, a natural compound present in broccoli, can raise levels of frataxin, the protein that is deficient in people with Friedreich ataxia. It also helped protect vulnerable nerve cells from damage. Sulforaphane has also been found to affect several disease-related processes, including cellular stress and inflammation.   Intermittent fasting reveals gut-brain pathway that may reduce chronic pain Zhengzhou University & First Affiliated Hospital (China) August 24 2026 (Medical Xpress) Chronic pain, pain that persists or returns for more than three months, can affect people's emotional well-being and is often accompanied by difficulty concentrating or remembering things.  Researchers at Zhengzhou University and its First Affiliated Hospital conducted a study investigating the effects of intermittent fasting on chronic pain in mice. Their findings, published in Brain, Behavior, and Immunity, suggest that fasting for set hours can alter gut bacteria and influence the connection between the digestive tract and the brain, which may in turn reduce pain sensitivity and improve mental function. The researchers observed that mice with chronic pain who followed the intermittent fasting regimen appeared to exhibit reduced sensitivity to normally harmless touch and heat. In addition, fasting appeared to improve their performance on simple tasks and reduce anxiety-like behaviors. Collected data suggested that fasting had strengthened the mice's intestinal barrier, reduced neuroinflammation and altered the composition of their gut microbiota. A species of gut bacteria that appeared to consistently increase with intermittent fasting was Alistipes finegoldii. This study suggests that intermittent fasting can change the composition of the gut microbiota, particularly in mouse models of chronic pain. Interestingly, the team also found that supplementing mice with Alistipes finegoldii, the bacterial species that increased with fasting, reproduced the pain-relieving effects and cognitive improvements observed in fasting mice.   Microalga extract shows promise for fatigue through mitochondrial function Jeonbuk National University & Yuhan Care Co (South Korea), August 11 2026 (Nutrition) Algae have long been used for nutritional and health-promoting purposes in several cultures. Haematococcus pluvialis, a fresh water green algae widely recognized as containing high levels of astaxanthin, has attracted growing interest as a functional bioresource with potential to improve physical performance and alleviate fatigue; however, its underlying mechanisms remain unclear.  This study aimed to evaluate the anti-fatigue effects of H. pluvialis extract (YHC-T-2414) and its underlying mechanisms. Its antioxidant effect was assessed by measuring reactive oxygen species (ROS) generation.  Mice were administered YHC-T-2414 for 3 weeks and subjected to an exhaustive swimming test. Subsequently, fatigue-related biochemical parameters, including lactate, LDH, creatine, malondialdehyde (MDA), tumor necrosis factor-alpha (TNF-α), and interleukin-6 (IL-6) were measured in serum and muscle tissues. YHC-T-2414 attenuated H2O2-induced reductions in cell viability, and reduced LDH and CK activities and ROS generation in H2O2-treated C2C12 myoblasts.  Furthermore, it significantly increased swimming time in the forced swimming mouse model while reducing lactate, LDH, CK, MDA, TNF-α, and IL-6.   Vitamin D Supplementation Tied to Slower Biological Aging, Studies Find Yale University, August 23 2026 (Natural News)     Recent analyses of clinical trial data have linked daily vitamin D3 supplementation to slower biological aging, according to researchers.   A study published in the American Journal of Clinical Nutrition found that 2,000 international units (IU) of vitamin D3 daily significantly reduced telomere shortening over four years among participants.   Researchers followed 1,036 adults with vitamin D deficiency in the Berlin Aging Study II and GendAge study for an average of 7.4 years. According to the report, participants who began taking vitamin D supplements after the initial assessment had lower epigenetic age acceleration at follow-up than deficient participants who did not supplement. The difference was about 2.6 years on one epigenetic clock and 1.3 years on another.   The report also stated that participants whose deficiency was successfully treated had epigenetic aging measures that were not significantly different from those of vitamin D-sufficient participants. These findings suggest that correcting a vitamin D deficiency may move some markers of biological aging in a more favorable direction.    

Inside Politics Live is coming to Cork on September 30th. Get your tickets here. Pat Leahy is joined by Ellen Coyne and Liz Carolan to talk about the response to the circumstances around the recent fatal M9 motorway crash. They examine Coimisiún na Meán's response and the powers it has under the EU Digital Services Act, and the refusal of Tiktok to appear before a Dail committee. They consider proposals like making joyriding videos illegal and weigh up concerns about free speech and enforceability. In part two: the Government has u-turned on whether to pay for Skyclarys, a drug that treats Friedreich's ataxia, a rare neurodegenerative disease. Why did it take so long? Liz Carolan is a journalist, author and consultant. She writes The Briefing, a newsletter about technology and politics.Would you like to receive daily insights into world events delivered to your inbox? Sign up for Denis Staunton's Global Briefing newsletter here: irishtimes.com/newsletters/global-briefing/ Hosted on Acast. See acast.com/privacy for more information.

Craig spoke with Mick after the decision was made to approve Skyclarys to those with Friedreich's Ataxia.

Today on Galway Talks with John Morley:  9am-10am  Minister for Nature, Heritage and Biodiversity Christopher O'Sullivan joins us Tributes to country music legend Dolly Parton CAO DAY: What happens when the offers land? Majority of under-35s fear they'll never own a home 10am-11am Skyclarys approved after two-year campaign by Friedreich's Ataxia families Right to Repair: Should you fix your broken appliances instead of replacing them? Up to 2,100 Galway children on crèche waiting lists New Connacht signing Will Connors helping make rugby accessible to all 11am-12pm FINANCIAL ADVICE Solar power hits record high – but can Ireland's grid keep up? Tuam children to star in new national TV documentary 

Craig Coady and Emma O'Shea on the decision by the HSE to approve the reimbursement of Skyclarys for people with Friedreich's Ataxia, new research shows that nearly a quarter of women surveyed often miss work due to menstrual symptoms, what's holding Irish employers back from inclusive hiring, on Wednesday Wisdom: a nervous mammy is looking for reassurance as her shy boy starts secondary school, all you need to know for Electric Picnic 2026, Peter Dowdall will be here to answer your gardening questions Hosted on Acast. See acast.com/privacy for more information.

As Ireland waits for the HSE Skyclarys decision PJ talks to the organizers of rallies in support of Friedreich's Ataxia patients held over the last week about their hopes for today Hosted on Acast. See acast.com/privacy for more information.

The HSE has approved the reimbursement of the drug Skyclarys for people with Friedreich's Ataxia.This comes following a substantially improved financial offer by drug firm Biogen to the Health Service Executive.Joining Ciara to discuss this is Minister for Health, Jennifer Carroll MacNeill.

Today on Galway Talks with John Morley:  9am-10am  Decision day for life-changing Friedreich's ataxia drug  Galway comes last in national housing delivery rankings  Illegal seaweed harvesting investigated along Irish coast  10am-11am Calls to name Galway street after legendary author Ken Bruen  Warning Ireland is ‘backsliding' on human rights  74% of drivers speeding on busy Loughrea road  11am-12pm The Chase star Darragh Ennis brings his quiz show to Galway  Eight in ten children never cycle to school  MUSIC MORNINGS - Galway singers wanted for spectacular 100-voice choir 

The HSE today has approved a new offer from drug firm Biogen over ‘Skyclarys', which will now be available with reimbursement to Friedreich's Ataxia patients. This comes after mounting pressure, and months of campaigning…Joining Clare McKenna to discuss this is Teresa Kane, a mother of two children with Friedreich's Ataxia and Niamh Ní Hoireabhaird, who lives with Friedrich's Ataxia…

Friedreich's Ataxia campaigners demonstrated yesterday for the reimbursement of Skyclarys ahead of a HSE decision on funding the drug tomorrow.Speaking to Anton this morning was Niamh Ní Hoireabhard a journalist from Kildare who was diagnosed with Friedreich's Ataxia when she was 13.

Friedreich's Ataxia campaigners demonstrated yesterday for the reimbursement of Skyclarys ahead of a HSE decision on funding the drug tomorrow.Speaking to Anton this morning was Niamh Ní Hoireabhard a journalist from Kildare who was diagnosed with Friedreich's Ataxia when she was 13.

Independent Ireland leader Michael Collins urging the HSE to listen to patients and families ahead of the final decision on access to Skyclarys for Friedreich's Ataxia patients, why it's hard to recruit and retain teachers, RIP for pets - the rebranded pet memorial website, what routes would you like to see out of Cork Airport and Anneliese answers your nutrition questions Hosted on Acast. See acast.com/privacy for more information.

This week I sit down with Craig Coady, a father who has faced an extraordinary amount of heartbreak and who is now fighting with everything he has for his son.Craig speaks about his wife Della, who is living with Huntington's disease and is now in full-time care, and their two boys, Rory and Paudie, who were both diagnosed with the rare and progressive condition Friedreich's ataxia. Last year, Craig faced the unimaginable when 13-year-old Rory passed away as a result of the disease.Today his 16-year-old son Paudie is living with the same condition, and Craig is campaigning for access in Ireland to Skyclarys, the first treatment for Friedreich's ataxia, which can slow the progression of the disease.This is a conversation about enormous loss, a father's love, and a family who have already endured so much but above all, it's about Craig's determination to keep fighting for his son and for hope.We mentioned at the end of the conversation that there is a march in Dublin this Sunday August 23rd beginning at 12 noon from the Garden of Remembrance in Dublin to Custom Quay House. If you can at all we would love you to get out and support

Craig tells PJ about the meeting called by Michael Collins TD in Buswells yesterday with the key players in the Skyclarys decision his son Paudie so badly needs and he also describes meeting other families hit by Friedreich's Ataxia for the first time who were at the hotel as well. Hosted on Acast. See acast.com/privacy for more information.

On this morning's show... Cllr Michael Brennan on the growing problem of anti-social behavior. Our contributors tackle the big issues — funding for the Friedreich's Ataxia drug and President Trump's upcoming visit. HSE Drug Education Officer John Leahy joins us after 10. The Wellbeing Slot with Muriel Cuddy. And John G. O'Dwyer takes us through another chapter of Irish history.

Please join us at patreon.com/tortoiseshack This Tortoise Shack episode is a heartfelt and open discussion on Friedreich's Ataxia, its impact on young people, and the urgent need for accessible treatments. Journalist Niamh Ní Hoireabhaid and Legal Student, Emily Felix share their personal journeys, advocacy efforts, frustrations, struggles and hopes for the future. The conversation ends with a focus on the importance of societal support, the need for government action and the hope of medical advancements. The Dan's vs The Geography Teacher:https://www.patreon.com/tortoiseshack/posts/patron-exclusive-167005633 10yr Old Zain in Gaza:https://www.patreon.com/tortoiseshack/posts/patron-exclusive-166824885

PJ talks to Mary Burke who is organizing the vigil this evening at 7pm in Kealkill NS Grounds which will be attended by Friedreich's Ataxia patient Emma O'Shea of Ballylickey and her parents. Hosted on Acast. See acast.com/privacy for more information.

On this morning's show... Independent MEP Michael McNamara will join us in a few moments. Following the recommendation to refuse funding for a drug used to treat the degenerative disease Friedreich's Ataxia we will hear from a woman who has the condition. Tony got in touch to say he believes atheists, as well as Christians, are facing persecution The latest on the Dundrum House Saga, Cllr Davy Dunne features in our Beyond politics slot. The GRA say that gardaí are not trained to pursue stolen cars "going down the wrong way" on a motorway.. Cashel Rugby Football Club will host Cashel Music Festival, Our interior designer, Karen, will drop in.

A number of Fianna Fáil TDs, Senators and MEPs have signed a letter protesting the recommendation not to fund a drug used to treat Friedreich's ataxia. Fiachra O'Cionnaith of our political staff.

Today on Galway Talks with John Morley:  9am-10am  Hauliers Warn of Winter ‘Perfect Storm' as €150m in Fuel Supports Goes Unused    Galway Goes Green Today in Memory of Liz Kavanagh O'Malley    More Households Trapped in Long-Term Energy Arrears  10am-11am Drug Company Told Major Price Cut Needed for Friedreich's Ataxia Treatment  Assault, Harassment and Stalking Behind Almost Half of Calls to Victims' Helpline   Study uncovers deaths of 17 children at former Ballinasloe industrial school  11am-12pm Galway Man Prepares for Epic 4,500km Walk Across America  Galway Looks to the Skies for Spectacular Solar Eclipse  MUSIC MORNINGS - DAN EGAN  

Craig Cody who has already lost one son to Friedreich's ataxia and has another son suffering with the disease spoke to Neil.

Craig Coady, father of Paudie who has Friedreich's Ataxia spoke to our reporter Andrew Lowth. Professor Michael Barry, Clinical Director of the National Centre for Pharmacoeconomics joined us in studio to talk on why the HSE's Drugs Group decided not to recommend covering the cost of the drug.

Jerry spoke to Maureen Sweeney, head of operations, Ataxia Foundation Ireland, about the HSE Drugs Group's decision to recommend that the drug Skyclarys, for the rare, degenerative disease Friedreich's ataxia, should not be covered by the HSE.

Today on Galway Talks with John Morley:  9am-10am  Galway Bay FM's Garry Curran to MC Historic Manchester United v Leeds Clash at Croke Park  Farmers Warn Dry Spell is Beginning to Bite  Nine-Day Walk Through Galway Helping Feed Hungry Children  10am-11am Fresh Blow for Families Fighting for Access to Friedreich's Ataxia Drug  Warning of Permanent Eye Damage Ahead of Solar Eclipse  Can the Circus Survive? Rising Costs Put the Big Top Under Pressure  11am-12pm FINANCIAL ADVICE  St. Columba's Credit Union welcome new CEO  The Wiz 

The HSE Drugs Group has decided to recommend not funding the drug Skyclarys for the rare condition Friedreich's Ataxia. Around 200 people have this disease in Ireland.Pádraig O'Sullivan is Fianna Fáil TD for Cork North Central and joins Shane to discuss.

In this episode of the Brain & Life Podcast, co-host Dr. Katy Peters is joined by the one and only Bill Nye, an American science educator, mechanical engineer, television presenter, and author best known for hosting the Emmy Award–winning series Bill Nye the Science Guy. Bill discusses his family's experience with a rare inherited ataxia and dives into his work with the National Ataxia Foundation to advocate for research on another form of the disease, Friedreich ataxia. Dr. Peters is then joined by Dr. Stephan Züchner, a neurologist and geneticist who identified the genetic mutation responsible for the ataxia in Bill Nye's family.   Additional Resources Bill Nye: The Ataxia Advocate Guy What is Friedreich ataxia? Theater Is Therapy for Patients with Ataxia   Brain & Life Podcast Episodes on Similar Topics Paralympic Athlete Helen Kearney on Living Her Dreams with Friedreich's Ataxia   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: Bill Nye @billnye

In this episode of the Brain & Life Podcast, co-host Dr. Katy Peters is joined by the one and only Bill Nye, an American science educator, mechanical engineer, television presenter, and author best known for hosting the Emmy Award–winning series Bill Nye the Science Guy. Bill discusses his family's experience with a rare inherited ataxia and explains why he is partnering with the National Ataxia Foundation to advocate for research on another form of the disease, Friedreich ataxia. Dr. Peters is then joined by Dr. Stephan Züchner, a neurologist and geneticist who identified the genetic mutation responsible for the ataxia in Bill Nye's family. Stay tuned for part two of this conversation next week.   Additional Resources Bill Nye: The Ataxia Advocate Guy What is Friedreich ataxia? Theater Is Therapy for Patients with Ataxia   Brain & Life Podcast Episodes on Similar Topics Paralympic Athlete Helen Kearney on Living Her Dreams with Friedreich's Ataxia   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: Bill Nye @billnye Hosts: Dr. Daniel Correa @neurodrcorrea; Dr. Katy Peters @KatyPetersMDPhD

Paul talks to Sandra Burns from Joe's Farm Crisps a cousin of Paudie Coady who desperately needs Skyclarys to treat his Friedreich's ataxia. The farm in Killeagh, is hosting its annual sunflower picking fundraiser throughout July & August to raise funds for this. Sunflower Picking will begin this week on the following days: Thu Jul 23rd to Sun Jul 26th 4pm-8pm See also here https://www.facebook.com/joesfarmcrispscork/posts/pfbid0wTj4DodHFuuiNuyiLb1eZR8oaTpzLXYzgKK7P36dCURjktjqm6K2BvxxQ3oPS4r9l Hosted on Acast. See acast.com/privacy for more information.

Neil speaks to heartbroken Father Craig Coady following HSE meeting yesterday.

Grace Hunter tells PJ about the Forever 13 Music Festival Hibernian Hotel Jul 5th raising funds and awareness for Friedreich's Ataxia and for Paudie, the son of Skyclarus Campaigner Craig Coady. See also forever13.net Hosted on Acast. See acast.com/privacy for more information.

Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]

Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]

Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]

Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]

Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]

Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]

Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]

In this episode, recorded on-site at the ASGCT 2026 Annual Meeting, Molecular Therapy Advances Associate Editor-in-Chief Dr. Dan Stone speaks with Dr. Dan DuBreuil of Sanofi. They break down the science behind a recent paper detailing the development of a secretable frataxin, highlighting its potential to improve treatment efficacy for Friedreich’s ataxia. Music: 'Electric Dreams' by Scott Buckley - released under CC-BY 4.0. www.scottbuckley.com.auShow your support for ASGCT!: https://asgct.org/membership/donateSee omnystudio.com/listener for privacy information.

Description: In Season 5, Episode 5 of The Techie and the Cowboy Podcast, we sit down with Chloe, a registered nurse whose life took an unexpected turn after being diagnosed with Friedreich's ataxia—a rare, progressive neurological condition that affects coordination, movement, and speech.Instead of giving up, Chloe chose a different path.From pushing through nursing school while managing her diagnosis, to finding purpose through faith and service, Chloe shares how she transformed one of life's toughest challenges into a mission to help others. Her story touches on resilience, recovery, identity, and what it truly means to live with purpose.This episode is a powerful reminder that no matter what you're facing, you are not alone—and your story isn't over.

Friedreich's ataxia is a progressive, multisystem disease that robs people of coordination, independence, and often life itself. Until recently, there had been no approved therapies. In Friedreich's ataxia, a genetic mutation causes a deficiency in frataxin, a protein that plays an essential role within mitochondria and affects enzymes involved in energy production. Solid Biosciences is developing a gene therapy designed to restore frataxin where it is needed. Friedreich's Ataxia Research Alliance CEO Jennifer Farmer and Solid Biosciences chief medical officer Gabriel Brooks discuss the lived reality of Friedreich's ataxia, Solid Bioscience's next-generation gene therapy now in development to address the underlying cause of the disorder, and what genuine partnerships between patient organizations and industry look like when patient priorities drive trial design and development decisions.

Tyson is graduating as a Sparkplug tomorrow and has one goal, walking across that stage with his buddies! He talks about how even though he has Friedreich's ataxia, a neuromuscular disorder, he's not letting that stop him from getting out of his wheelchair to get his diploma on graduation day. See omnystudio.com/listener for privacy information.

In about five weeks, adland will take over a small resort city in the south of France for a weeklong industry bonanza. The 2026 Cannes Lions International Festival of Creativity is on the horizon, slated for the last full week of June and rest assured, the medical marketing community will be there in force.  Nearly one month ago, the juries for Health & Wellness Lions and the Pharma Lions were announced, featuring a few North American-based creatives, including Chris Charles, executive creative director of Real Chemistry subsidiary 21Grams. You might remember Chris and his team for their Gold Pharma Lions-winning work on behalf of Biogen for Friedreich's Back, a darkly humorous campaign focused on the often terminal, rare condition Friedreich's ataxia. For this week's episode, Chris joins executive editor Jack O'Brien for a conversation about the early stages of the sizable task undertaken by the Cannes pharma jury and what trends he's keeping an eye on as they analyze the nominated work.  He also reflects on the success of Frederich's Back and why Cannes is important to pharma marketers. For our Trends segment, we're talking about the frustrating, mixed public health messaging surrounding the hantavirus cruise ship outbreak. Check us out at: mmm-online.com Follow us: YouTube: @MMM-onlineTikTok: @MMMnewsInstagram: @MMMnewsonlineTwitter/X: @MMMnewsLinkedIn: MM+M To read more of the most timely, balanced and original reporting in medical marketing, subscribe here.Music: “Deep Reflection” by DP and Triple Scoop Music. Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

Aoife Quinn who is living with Friedreich's Ataxia, is calling on the government to make the drug Skyclarys accessible here for patients who need it.

Helen taks with Neil about the life dibilitalying disease that she is suffering from, Friedreich's Ataxia.

Dr. Gabriel Brooks is Chief Medical Officer at Solid Biosciences, a precision molecular genetic medicines company focused on rare cardiovascular and neuromuscular diseases, including Friedreich's ataxia. Currently, there are very limited treatments for this rare, progressive neurologic disease caused by a genetic deficiency. Solid Biosciences' novel gene therapy uses dual-route administration to deliver directly to the heart and brain and to replace the missing frataxin gene, which is critical for energy production. Dr. Brooks explains, "Our flagship program is our DMD program, where we have two clinical trials, a first-in-human INSPIRE study, and a double-blind randomized placebo-controlled phase three trial for the SGT-003 DMD medicine. And for Friedreich's ataxia, we have the SGT-212 program, which uses a novel dual route of administration to target not only the cardiomyopathy, but also uses direct injection into the dentate nucleus. We're trying to address the central pathophysiology of the ataxia that patients live with every day." "So Friedrich's ataxia is a rare and devastating neurologic disease that afflicts around 5,000 patients in the United States and much more actually in Europe. There is a genetic predisposition. And Friedrich's ataxia is really a disease where the patients experience difficulty in moving, what's called ataxia, which you could think of as poor coordination, where when they try to move, their brain is sending a signal to their muscles, let's say to grab that cup of coffee or climb the stairs." "In fact, there are specific neurologic tests in terms of looking at nerve conduction and other things that can make the formal diagnosis. And certainly, we can get there with genetic testing. And what you're picking up on is absolutely something that's important with rare disease, is that oftentimes there's a lag between when a patient first manifests symptoms and when they ultimately have the diagnosis. In Friedrich's ataxia, like other genetic diseases, it is horrible. And so, for patients who do make the diagnosis of Friedreich's ataxia, there is often what we call cascade screening, where we look for the disease gene in relatives. Oftentimes, it's then that siblings are identified, and eventually they start manifesting the disease as well."   #SolidBiosciences #GeneTherapy #GeneTherapyResearch #RareDiseases #FriedreichsAtaxia #PrecisionMedicine #Neurology #Cardiology #ClinicalTrials #MedicalInnovation #HealthcareInnovation #SolidBiosciences solidbio.com Download the transcript here

Dr. Gabriel Brooks is Chief Medical Officer at Solid Biosciences, a precision molecular genetic medicines company focused on rare cardiovascular and neuromuscular diseases, including Friedreich's ataxia. Currently, there are very limited treatments for this rare, progressive neurologic disease caused by a genetic deficiency. Solid Biosciences' novel gene therapy uses dual-route administration to deliver directly to the heart and brain and to replace the missing frataxin gene, which is critical for energy production. Dr. Brooks explains, "Our flagship program is our DMD program, where we have two clinical trials, a first-in-human INSPIRE study, and a double-blind randomized placebo-controlled phase three trial for the SGT-003 DMD medicine. And for Friedreich's ataxia, we have the SGT-212 program, which uses a novel dual route of administration to target not only the cardiomyopathy, but also uses direct injection into the dentate nucleus. We're trying to address the central pathophysiology of the ataxia that patients live with every day." "So Friedrich's ataxia is a rare and devastating neurologic disease that afflicts around 5,000 patients in the United States and much more actually in Europe. There is a genetic predisposition. And Friedrich's ataxia is really a disease where the patients experience difficulty in moving, what's called ataxia, which you could think of as poor coordination, where when they try to move, their brain is sending a signal to their muscles, let's say to grab that cup of coffee or climb the stairs." "In fact, there are specific neurologic tests in terms of looking at nerve conduction and other things that can make the formal diagnosis. And certainly, we can get there with genetic testing. And what you're picking up on is absolutely something that's important with rare disease, is that oftentimes there's a lag between when a patient first manifests symptoms and when they ultimately have the diagnosis. In Friedrich's ataxia, like other genetic diseases, it is horrible. And so, for patients who do make the diagnosis of Friedreich's ataxia, there is often what we call cascade screening, where we look for the disease gene in relatives. Oftentimes, it's then that siblings are identified, and eventually they start manifesting the disease as well."   #SolidBiosciences #GeneTherapy #GeneTherapyResearch #RareDiseases #FriedreichsAtaxia #PrecisionMedicine #Neurology #Cardiology #ClinicalTrials #MedicalInnovation #HealthcareInnovation #SolidBiosciences solidbio.com Listen to the podcast here

Episode 296 explores connection, resilience, and the power of meeting people where they are—starting with a story about a young man with Friedreich's ataxia (FA) who courageously continues cycling even after a crash.The episode's main conversation features Dr. Eric Mitchell and his son Dylan, who share their work with Neurodiversity Consultants and their strengths-based, relationship-driven approach to supporting neurodivergent individuals. Dylan offers a powerful personal perspective on growing up on the spectrum, highlighting both challenges (like social connection and emotional regulation) and the tools that helped him thrive. Dylan talks about a challenge many of his clients face: the growing lack of “tertiary spaces” for social connection and how that disproportionately impacts neurodivergent people. The episode closes with reflections on purpose, gratitude, and the importance of creating meaningful opportunities for community.LINKSBowling Alone

Another frustrating hotel experience opens the episode, but the real conversation centers on what it actually means to “never give up.”After dealing with a series of accessibility failures—miscommunication, poor accommodations, and a lack of understanding—Kyle and Sean shift into a bigger idea: persistence isn't just about pushing harder.Using the story of a breakthrough Friedreich's ataxia (FA) drug approval, they explore how real progress often requires a different approach—not more force. Whether it's navigating healthcare, training in the gym, or recovering from setbacks, they highlight the importance of adapting, rethinking the path, and letting go of ego, pride, or outdated expectations.The takeaway is simple but powerful: don't give up on the goal—but be willing to change how you get there.

This episode starts with a classic 2DD moment—a wild but relatable story about Kyle discovering he had a piece of road stuck in his knee for a year and a half. It's funny, a little absurd, and quickly turns into something more meaningful: how often we ignore small issues—physical or otherwise—and just learn to live with them instead of addressing them.From there, the conversation shifts into a deeper topic: finding your people—and just as importantly, recognizing that there's no single “right” way to do that. Sean and Kyle reflect on their very different journeys with Friedreich's ataxia—Sean jumping into connection early, while Kyle kept his distance for nearly a decade. That contrast sets the tone for an honest discussion about timing, identity, fear, and readiness when it comes to community.They unpack the real value of connection—education, emotional relief, and the kind of understanding that doesn't require explanation. At the same time, they challenge the idea that everyone needs to dive into a disease-specific community right away (or at all). Avoidance isn't weakness—it can be self-protection. Whether it's fear of the future, comparison, identity struggles, or simply not being ready, they make it clear: you get to choose how you engage, when you engage, and who you engage with.The takeaway is simple but powerful: there's no wrong way to navigate this life. You can build a tight-knit community, keep your circle broad, or take your time figuring it out. You can connect deeply—or not at all—for now. What matters is that it works for you in the season you're in.LINKS2DD LIVE April 12, 11am Pacific/2pm Eastern - Join Us!

In this episode, Sean shares the bold details behind his upcoming climb of the Niesen Stairway in Switzerland—the world's longest staircase with 11,674 steps, the equivalent of climbing the steps of the world's tallest building nearly four times. Because the stairs are a private emergency access route alongside a mountain tram, Sean and his team will attempt the ascent overnight in the dark, navigating uneven steps, changing terrain, and high elevation. He talks about the intense logistics, safety planning, and 26-week training process preparing him to take on the challenge while living with Friedreich's ataxia (FA). The climb is also a fundraiser for his nonprofit, De:terminence, with a goal of raising $50,000 to help people with disabilities pursue life-changing physical achievements. With a team of 11 supporters, careful strategy, and a powerful purpose, Sean is setting out to prove that disability doesn't eliminate adventure—it redefines it.