POPULARITY
In this 1st EVER edition of Orby after DARK, he slows things down and has a HOT bath to help relax and enjoint a few breskys while pontificating aboot HOW many Potter CE's are the absoloute max JJP can make and still get away with calling ULTRA RARE!
What if God was your dead wife? What if your boat learned how to be a man on the internet? What if your Dead God Wife forgave you for being a huge asshole after obliterating an evil future version of you who was an even bigger asshole? What if Cog was the most important guy in the world? What if you could make a big hole? What if you were smooth and purple? What if all of this is just a bad dream? That would be nice, wouldn't it? Noise Space | Discord
This week on The Genetics Podcast, Patrick is joined by Kent Rogers, Chief Executive Officer at EveryONE Medicines. They discuss Kent's journey across every side of the desk in the drug discovery space, EveryONE Medicines' efforts to develop antisense oligonucleotides for ultra-rare diseases, and the need to adapt regulatory models for n-of-1 therapies.Show Notes: 00:00 Intro to The Genetics Podcast00:59 Welcome to Kent and his experiences across every side of the pharma ‘desk'06:00 Challenges of commercialization for ultra-rare disease therapies and the advantage of antisense oligonucleotides (ASOs) 10:28 EveryONE Medicines' approach to regulatory bodies12:30 Regulatory feedback and expectations from EveryONE Medicines' platform-based approach to n-of-1 therapies15:47 Differences in regulatory requirements for rare disease across countries 19:53 Insights from being on different sides of the drug development industry22:40 Differences in healthcare systems across countries that can facilitate or impede drug development26:57 Rationale behind focusing on ASOs for treating rare diseases 28:03 Building EveryONE Medicines and Kent's approach to leadership33:20 Lessons from Kent's career37:17 Closing remarks Find out moreEveryONE Medicines (https://www.eomeds.com/)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
Welcome back! I hope you enjoy this rare sounds sound assortment! It's pretty great what I can find when I clean my room. Personally, my favorite was the dry brush, but this video also made me see my calculator in a new light. Many blessings and the sweetest of dreams!
Thanks to Allstate for sponsoring today's episode! Click here https://bit.ly/4ar1Ym2 to check Allstate first and see how much you could save on car insurance. This week, the guys chat about Britany Force's new Top Fuel Dragster speed record, a Mustang GT Cop Cruiser and Cadillac's entry into Formula Un. Plus, a $200,000 burnt out Hispano-Suiza, the death of the GTR and some tariff talk. Learn more about your ad choices. Visit podcastchoices.com/adchoices
In this episode we are exploring rare and ultra-rare disease in honor of Rare Disease Day on February 28 which raises awareness for the 300 million people worldwide living with a rare disease. We are talking with one author about their study on the role of digital tools in rare disease management and another author about their research into experiences of parents who have a child with an emerging-ultrarare disorder. Segment 1: Exploring the role of digital tools in rare disease management: An interview-based study Andrea Chang works as a Genomic Science Liaison at Quest Diagnostics and earned her MS in Genetic Counseling from UCLA's inaugural genetic counseling class. In this segment we discuss: The role of digital tools in healthcare management for rare diseases Real-world examples of existing digital tools for the rare disease community The impact of rare disease on the global population The healthcare gaps currently not addressed by digital tools Recommended digital tool features Segment 2: The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders Bethany Stafford-Smith works clinically as a genetic counsellor at University Hospitals of Leicester. She also works for Great Ormond Street Hospital as a Research Genetic Counsellor. In this segment we discuss: The definition of emerging ultra rare disorders or E-URD Experiences of parents with children diagnosed with an E-URD Parents' perceptions on the utility of a diagnosis Challenges faced by parents seeking medical and social support after receiving an E-URD diagnosis for their child How researchers and healthcare providers can support advocacy in E-URDs Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors. Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com. DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.
Click here to send a text to Christian and Doug with your contact infoWe had a great interview last night with Matt Pratt from Top Coat Garage (https://www.instagram.com/topcoatgarage/) and learned a ton about the car painting process. Matt also loves Honda's and had a good story we wanted to share about an ultra-rare NSX he had to pass on, but there will be another in his future.#carsloved #everycartellsastory #everycarhasaculture #carsloved #podcast #carcast #acuransxtypes #acuransx #hondaPlease Follow, Like, and Subscribe to be the first to hear our latest content and past episodes - https://linktr.ee/carsloved
Links & Resources: Follow Their Journey on Social Media Facebook: Paxtons Pioneers Instagram: Paxtons_Pioneers KCAL News Story Watch the in-depth feature on their family's advocacy here: KCAL Rare Disease Coverage
Send us a textJoin Us on Patreon: Patreon.com/LivingWellPodIn this episode, we welcome Christine McGarvey, a podcast listener and rare disease advocate, who shares her inspiring journey of living well despite significant health challenges. Christine talks about her decade-long journey to get a diagnosis, how her advocacy work has brought meaning to her life, and the lessons she's learned about resilience, compassion, and staying present. What You'll Hear in This Episode:How Christine has turned her pain into purpose through advocacyThe role of compassion in navigating chronic illnessHow to find meaning and fulfillment in the face of uncertaintyInsights on parenting children who have similar health challengesThe power of community and connection for those with rare or undiagnosed conditionsEpisode Links:National Organization of Rare Disorders (NORD)Undiagnosed Disease Network FoundationJoin Our Community:You can now join us on Patreon! It's a space where you'll find bonus content, live coaching calls, and a private Facebook group for support and inspiration to help you live well, no matter what health challenges you're facing. Your membership also helps support the podcast. Learn more: Patreon.com/LivingWellPodConnect with Us:Instagram: @LivingWellPodFacebook: Living Well PodEmail: livingwellpod@gmail.comVoicemail: SpeakPipeSupport the show
This week, we welcome Christine McGarvey, a rare disease advocate and Living Well Pod listener, to share her inspiring journey of living well despite significant health challenges. Christine talks about her decade-long search for a diagnosis, the meaning she's found through advocacy, and lessons on resilience, compassion, and staying present.What You'll Hear in This Episode:* How Christine turned her pain into purpose.* The role of compassion in navigating chronic illness.* Finding fulfillment in the face of uncertainty.* Insights on parenting children with similar health challenges.* The power of community and connection for those with rare or undiagnosed conditions.We now have a SpeakPipe line where you can leave us short audio messages. Call in to suggest topics or guests for the show, share insights you've gained while listening, or let us know if you're interested in receiving free coaching from Crystal & Samantha on an upcoming episode.Episode Links:* Undiagnosed Diseases Network Foundation* National Organization for Rare Disorders* Private & Group Coaching with Samantha* Join our Substack communityTheme music from #Uppbeathttps://uppbeat.io/t/ben-johnson/cant-stop-chasing-youLicense code: LTNISOMTFHZIIXYY This is a public episode. If you would like to discuss this with other subscribers or get access to bonus episodes, visit livingwellpod.substack.com
Michelle Teng, a techbio entrepreneur, co-founded the H-ABC Foundation after her daughter was diagnosed with the ultra-rare and fatal leukodystrophy. The foundation funded research that identified the causal mutation of the condition and pointed the way to a potential therapy. Teng later joined with Dan Williams to co-found SynapticsBio to advance that work and develop an experimental antisense oligonucleotide therapy to silence the mutated gene underlying a form of the progressive neurological condition. We spoke to Williams, co-founder and CEO of SynaptixBio, about H-ABC, how the company's experimental therapy works, and the role patient advocates have played in the company's efforts to advance its experimental therapy.
Support us on Patreonhttps://www.patreon.com/user?u=4279967Jack Benny TV Videocasthttps://open.spotify.com/show/6BDar4CsgVEyUloEQ8sWpw?si=89123269fe144a10Jack Benny Show OTR Podcast!https://open.spotify.com/show/3UZ6NSEL7RPxOXUoQ4NiDP?si=987ab6e776a7468cJudy Garland and Friends OTR Podcasthttps://open.spotify.com/show/5ZKJYkgHOIjQzZWCt1a1NN?si=538b47b50852483dStrange New Worlds Of Dimension X-1 Podcasthttps://open.spotify.com/show/6hFMGUvEdaYqPBoxy00sOk?si=a37cc300a8e247a1Buck Benny YouTube Channelhttps://r.search.yahoo.com/_ylt=AwrOoc1Q5bllBgQA469XNyoA;_ylu=Y29sbwNncTEEcG9zAzEEdnRpZAMEc2VjA3Ny/RV=2/RE=1707891281/RO=10/RU=https%3a%2f%2fwww.youtube.com%2f%40BuckBenny/RK=2/RS=nVp4LDJhOmL70bh7eeCi6DPNdW4-Support us on Patreonhttps://www.patreon.com/user?u=4279967
Support us on Patreonhttps://www.patreon.com/user?u=4279967Jack Benny TV Videocasthttps://open.spotify.com/show/6BDar4CsgVEyUloEQ8sWpw?si=89123269fe144a10Jack Benny Show OTR Podcast!https://open.spotify.com/show/3UZ6NSEL7RPxOXUoQ4NiDP?si=987ab6e776a7468cJudy Garland and Friends OTR Podcasthttps://open.spotify.com/show/5ZKJYkgHOIjQzZWCt1a1NN?si=538b47b50852483dStrange New Worlds Of Dimension X-1 Podcasthttps://open.spotify.com/show/6hFMGUvEdaYqPBoxy00sOk?si=a37cc300a8e247a1Buck Benny YouTube Channelhttps://r.search.yahoo.com/_ylt=AwrOoc1Q5bllBgQA469XNyoA;_ylu=Y29sbwNncTEEcG9zAzEEdnRpZAMEc2VjA3Ny/RV=2/RE=1707891281/RO=10/RU=https%3a%2f%2fwww.youtube.com%2f%40BuckBenny/RK=2/RS=nVp4LDJhOmL70bh7eeCi6DPNdW4-Support us on Patreonhttps://www.patreon.com/user?u=4279967
Unlock the secrets behind the sleek new profiles of the 2025 Toyota Camry XLE and Land Rover Range Rover Evoque in our latest episode. Are you ready to discover how Toyota's redesigned front grille and subtle side styling elevate the Camry's appeal? Or how a hybrid engine with 232 horsepower offers a balance of performance and efficiency, clocking in at a remarkable 46 miles per gallon? We paint a vivid picture of the Camry experience, critiquing its quilted interior trim and seating while applauding its standout ride quality and competitive pricing. Switch gears with us as we explore the luxury world of the 2025 Range Rover Evoque Dynamic SE. Is this the SUV that marries style with substance? With its 2.0 turbo engine, impressive towing capacity, and a feature-rich interior, this Evoque promises not just a ride, but an experience. We compare it against the likes of the Audi A3 and Volvo XC40, highlighting its off-road prowess and global manufacturing credentials. Plus, Jeff and Mike bring an exciting segment that showcases ultra-rare pickups with fascinating stories. Tune in to find out what makes these vehicles stand out in the crowded world of luxury automobiles.Be sure to SUBSRIBE to the In Wheel Time Podcast with your favorite podcast provider!Be sure to subscribe for more In Wheel Time Car Talk!The Original Lupe' Tortilla RestaurantsLupe Tortilla in Katy, Texas Gulf Coast Auto ShieldPaint protection, tint, and more!ProAm Auto AccessoriesProAm Auto Accessories: "THE" place to go to find exclusive and hard to find parts and accessories!Disclaimer: This post contains affiliate links. If you make a purchase, I may receive a commission at no extra cost to you.---- ----- Want more In Wheel Time Car Talk any time? In Wheel Time Car Talk is now available on iHeartRadio! Just go to iheartradio.com/InWheelTimeCarTalk where ever you are.----- -----Be sure to subscribe on your favorite podcast provider for the next episode of In Wheel Time Car Talk and check out our live broadcast every Saturday, 10a - 12noonCT simulcasting on iHeartRadio, YouTube, Facebook, Twitter, Twitch and InWheelTime.com.In Wheel Time Car Talk podcast can be heard on you mobile device from providers such as:Apple Podcasts, Pandora Podcast, Amazon Music Podcast, Spotify, Google Podcasts, iHeartRadio podcast, TuneIn + Alexa, Podcast Addict, Castro, Castbox and more on your mobile device.Follow InWheelTime.com for the latest updates!Twitter: https://twitter.com/InWheelTimeInstagram: https://www.instagram.com/inwheeltime/https://www.iheart.com/live/in-wheel-time-car-talk-9327/https://www.youtube.com/inwheeltimehttps://www.Facebook.com/InWheelTimeFor more information about In Wheel Time Car Talk, email us at info@inwheeltime.comTags: In Wheel Time, automotive car talk show, car talk, Live car talk show, In Wheel Time Car Talk
There is a growing mandate among researchers and VCs to provide proof of causal human biology for new targets. On the latest BioCentury This Week podcast, BioCentury's editors discuss the different strategies being deployed to identify causal links to disease using observational patient data or human cell models, including the challenges that come with each approach and the various computational methodologies companies are using.They also discuss the outcome of FDA's advisory committee meeting on Barth syndrome candidate elamipretide from Stealth Biotherapeutics, and the implications of the discussion for review of ultrarare disease therapies more broadly.Diving into the deal of the day, the editors review the proposal by H. Lundbeck to acquire Longboard Pharmaceuticals for $2.6 billion, and discuss how the biotech's therapy for developmental epilepsies may stack up against competitors.View full story: https://www.biocentury.com/article/65384300:00 - Introduction00:34 - Causal Biology and Big Data17:52 - FDA's Ultra-Rare Decision27:29 - Lundbeck Acquires LongboardTo submit a question to BioCentury's editors, email the BioCentury This Week team at podcasts@biocentury.com.Reach us by sending a text
Multiple sulfatase deficiency is a rare and progressive neurodegenerative disease. The patient advocacy organization United MSD Foundation has been able to advance a gene therapy into preclinical development for the ultra-rare condition through modest investment by pursuing a focused research strategy and leveraging partnerships. In May 2023, The Bespoke Gene Therapy Consortium, the National Institutes of Health-led public-private partnership selected the program for its clinical trial portfolio and will fund a phase 1/2 clinical trial for the therapy. We spoke to United MSD Foundation Executive Director Sarah Cortell Vandryspen, and UT Southwestern Gene Therapy Core Director Steven Gray. about United MSD Foundation's research strategy, what enabled it to advance a gene therapy as fast as it did, and what other patient organizations can learn from its success.
Support us on Patreonhttps://r.search.yahoo.com/_ylt=Awr92rDP5bllDAQAM_ZXNyoA;_ylu=Y29sbwNncTEEcG9zAzEEdnRpZAMEc2VjA3Ny/RV=2/RE=1707891407/RO=10/RU=https%3a%2f%2fwww.patreon.com%2fuser%3fu%3d4279967/RK=2/RS=9LbiSxziFkcdPQCvqIxPtxIgZ7A-Jack Benny TV Videocasthttps://open.spotify.com/show/6BDar4CsgVEyUloEQ8sWpw?si=89123269fe144a10Jack Benny Show OTR Podcast!https://open.spotify.com/show/3UZ6NSEL7RPxOXUoQ4NiDP?si=987ab6e776a7468cJudy Garland and Friends OTR Podcasthttps://open.spotify.com/show/5ZKJYkgHOIjQzZWCt1a1NN?si=538b47b50852483dStrange New Worlds Of Dimension X-1 Podcasthttps://open.spotify.com/show/6hFMGUvEdaYqPBoxy00sOk?si=a37cc300a8e247a1Buck Benny YouTube Channelhttps://r.search.yahoo.com/_ylt=AwrOoc1Q5bllBgQA469XNyoA;_ylu=Y29sbwNncTEEcG9zAzEEdnRpZAMEc2VjA3Ny/RV=2/RE=1707891281/RO=10/RU=https%3a%2f%2fwww.youtube.com%2f%40BuckBenny/RK=2/RS=nVp4LDJhOmL70bh7eeCi6DPNdW4-Support us on Patreonhttps://r.search.yahoo.com/_ylt=Awr92rDP5bllDAQAM_ZXNyoA;_ylu=Y29sbwNncTEEcG9zAzEEdnRpZAMEc2VjA3Ny/RV=2/RE=1707891407/RO=10/RU=https%3a%2f%2fwww.patreon.com%2fuser%3fu%3d4279967/RK=2/RS=9LbiSxziFkcdPQCvqIxPtxIgZ7A-
Support us on Patreonhttps://r.search.yahoo.com/_ylt=Awr92rDP5bllDAQAM_ZXNyoA;_ylu=Y29sbwNncTEEcG9zAzEEdnRpZAMEc2VjA3Ny/RV=2/RE=1707891407/RO=10/RU=https%3a%2f%2fwww.patreon.com%2fuser%3fu%3d4279967/RK=2/RS=9LbiSxziFkcdPQCvqIxPtxIgZ7A-Jack Benny TV Videocasthttps://open.spotify.com/show/6BDar4CsgVEyUloEQ8sWpw?si=89123269fe144a10Jack Benny Show OTR Podcast!https://open.spotify.com/show/3UZ6NSEL7RPxOXUoQ4NiDP?si=987ab6e776a7468cJudy Garland and Friends OTR Podcasthttps://open.spotify.com/show/5ZKJYkgHOIjQzZWCt1a1NN?si=538b47b50852483dStrange New Worlds Of Dimension X-1 Podcasthttps://open.spotify.com/show/6hFMGUvEdaYqPBoxy00sOk?si=a37cc300a8e247a1Buck Benny YouTube Channelhttps://r.search.yahoo.com/_ylt=AwrOoc1Q5bllBgQA469XNyoA;_ylu=Y29sbwNncTEEcG9zAzEEdnRpZAMEc2VjA3Ny/RV=2/RE=1707891281/RO=10/RU=https%3a%2f%2fwww.youtube.com%2f%40BuckBenny/RK=2/RS=nVp4LDJhOmL70bh7eeCi6DPNdW4-Support us on Patreonhttps://r.search.yahoo.com/_ylt=Awr92rDP5bllDAQAM_ZXNyoA;_ylu=Y29sbwNncTEEcG9zAzEEdnRpZAMEc2VjA3Ny/RV=2/RE=1707891407/RO=10/RU=https%3a%2f%2fwww.patreon.com%2fuser%3fu%3d4279967/RK=2/RS=9LbiSxziFkcdPQCvqIxPtxIgZ7A-
Cambrey Vasconez White is the mother of toddler Rowland, who has Cystic Fibrosis. If you listened to our podcast with Vicky Maldonado, they have similar struggles. Cambrey is also working to find an equitable approach to rare mutations in the U.S. and Canada. These two women connected, as you'll hear, because their sons share the same mutation.Rowland received access to a CF modulator after a battle with her insurance company. Her son's mutation is not on the FDA approved list for Trikafta…. even though there is proof that Trikafta will work on her son's mutation.To follow Cambrey go to @cfadvocacyYou can email her: cambreywhite@gmail.com Please like, subscribe, and comment on our shows, wherever you get your podcasts.Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Thanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en
In this episode, we welcome Julia Taravella, Executive Director of Rare Trait Hope Fund. She founded the organisation 11 years ago when her two children were diagnosed with aspartylglucosaminuria (AGU), an ultra-rare, autosomal recessive, and fatal neurodevelopmental disease. Tune in to learn about her goals for developing a gene therapy cure for the disease, her experiences as a mother raising two children with a terminal illness, and upcoming research developments for AGU.
Canadian, Vicky Maldonado is the mother of a young boy living with a rare genetic form of CF. Sebastian is 6 years old, and a twin. The road to diagnosis was challenging. Sebastian was diagnosed with two rare CF genes after repeated respiratory infections and two hospitalizations. “We were told that Sebastian likely didn't have CF because he's “not White”— his parents are Canadian-born Latinos from Ecuador. Though CF affects all races and ethnicities, there's still a common misconception among health-care providers that it is a predominantly White disease.”Vicky and her husband were devastated to learn that their son would not have access to the life-changing and life-saving drug Trikafta because he has two rare mutations. Due to small populations in rare mutations, clinical trials are often not feasible. Other countries are using in vitro data to provide access to those with rare and ultra-rare mutations while approximately 200 Canadians with CF are being left behind.This is not a new problem in Canada, the pathway to access to new and innovative therapies is fraught with challenges. A broader regulatory approach is needed to support implementation of the National Strategy for Drugs for Rare Diseases, and cystic fibrosis is an example of this need. There are hundreds of disease-causing mutations, some with only a handful of patients worldwide. Health Canada can improve access to rare disease medications like Trikafta by using patient and laboratory in vitro data and by developing a regulatory model that permits bulk approvals of gene mutations that can respond to precision medicines like Trikafta. Please like, subscribe, and comment on our shows, wherever you get your podcasts.Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Thanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en
When you hear about “rare” diseases, it can be easy to think we're talking about a one-in-a-million case. But actually, the “rare” is far more common than you think. About 1 in 10 Americans suffer from a rare disease. But because there are so many different kinds, getting diagnosed or even treated can be a nightmare of doctor appointments, long wait times on phone calls, and jumping through hoops. That was the case for young Charlie Sims. At just four years old, his parents noticed their son was exhibiting behavioral changes that compelled them to consult a doctor. Now seven years old, Charlie is the first and only person to receive therapy for his rare disease. Reset sits down with his parents, Matt and Leigh Sims, and RUSH pediatric neurologist Dr. Elizabeth Berry-Kravis to find out more about his story, and the importance of advocating for yourself and your family when seeking medical care. For a full archive of Reset interviews, head over to wbez.org/reset.
In this week's Recap, Marcello talks about Tesla Model Y seting a record when it became Europe's best selling car for 2023; Apple is offering Ultra-Rare discounts on its flagship iPhone 15 in China amid sliding demand fears; The S&P500 has reached an all-time high for the 1st time un 2 years. According to the Federal Reserve's Beige Book report released Wednesday. U.S. economic activity over the past 7 weeks has been largely stagnant, with both hiring & prices rising at a [...] The post January 21: Tesla Best Selling Car Europe, Apple discount IPhone 15, Stocks Record Highs (Recap ep262) appeared first on Investing & Day Trading Education: Day Trading Academy.
Amazon clothing & accessories you may be interested in? Your Purchase helps this podcast. If you like the content we provide, please click on this link, make a purchase and support Disclosed: UFO Files. Many thanks. Have fun unraveling the mystery! Amazon games & accessories you may be interested in? Your Purchase helps this podcast. If you like the content we provide, please click on this link, make a purchase and support Disclosed: UFO Files. Many thanks. Have fun unraveling the mystery! Amazon computers & accessories you may be interested in? Your Purchase helps this podcast. If you like the content we provide, please click on this link, make a purchase and support Disclosed: UFO Files. Many thanks. Have fun unraveling the mystery! Amazon cell phones & accessories you may be interested in? Your Purchase helps this podcast. If you like the content we provide, please click on this link, make a purchase and support Disclosed: UFO Files. Many thanks. Have fun unraveling the mystery! Amazon books you may be interested in? Your Purchase helps this podcast. If you like the content we provide, please click on this link, make a purchase and support Disclosed: UFO Files. Many thanks. Have fun unraveling the mystery! https://www.disclosedufofiles.com https://www.disclosedufofilesufofiles.podbean.com
A study suggests that an ultra-rare star collision in the Milky Way galaxy could have the capability to wipe out life on Earth.Scientists believe pairs of black holes could be hiding as one.Warnings of more floods and ice after Storm Babet leaves hundreds of homes submerged.Also in this episode:Can this tech stop winter travel chaos? National Highways announce £15.4m in new weather stationsIs Apple planning a surprise October iMac announcement?World's largest-ever asteroid impact crater may be in AustraliaStudy suggests better use of existing drugs increases cervical cancer survivalMark Zuckerberg uses Meta's new AI Ray-Bans to help him with dad duties Hosted on Acast. See acast.com/privacy for more information.
In 2021, the U.S. Food and Drug Administration notified Stealth Biotherapeutics it would not consider its application seeking approval for elamipretide as a treatment for the ultra-rare mitochondrial disease Barth syndrome. The agency wants the company to produce evidence of the drug's efficacy in a larger population of Barth syndrome patients then it studied, but the company believes it has exhausted the population in the United States of patients who fit the clinical trial criteria. Patients have lobbied the agency to give the drug a hearing, but there is growing concern that if the FDA fails to act, elamipretide will become unavailable to patients, who say the drug has given them the ability to lead a normal life. In an effort to move the FDA, Shelley Bowen, co-founder and director of family services for the Barth Syndrome Foundation, launched a Change.org petition calling on the agency to give a full and fair hearing to the drug. We spoke to Bowen about Barth syndrome, the fight over approval for the first drug to treat the condition, and why it points to a systemic problem with the lack of consistent use of the flexibility Congress granted the FDA to get treatments to patients with ultra-rare diseases.
Pink Sheet reporter and editors discuss the US Federal Trade Commission ending its attempt to block the Amgen acquisition of Horizon Therapeutics (:28), a proposed public-private partnership to develop ultra-rare cancer drugs (9:54), and a slow-down in ANDA submissions to the US Food and Drug Administration (22:02). More On These Topics From The Pink Sheet FTC's Test Case Opposing Amgen-Horizon Deal Ends With No-Bundling Agreement: https://pink.citeline.com/PS148804/FTCs-Test-Case-Opposing-Amgen-Horizon-Deal-Ends-With-No-Bundling-Agreement Ultra-Rare Tumors: Public-Private Partnership Eyed To Boost Drug Development: https://pink.citeline.com/PS148813/Ultra-Rare-Tumors-Public-Private-Partnership-Eyed-To-Boost-Drug-Development ANDA Submissions Lagging As FY 2023 Nears Its End: https://pink.citeline.com/PS148818/ANDA-Submissions-Lagging-As-FY-2023-Nears-Its-End
Dr. Björn Mellgård, VP and Global Program Lead of rare genetics and hematology at Takeda, is passionate about finding a cure for cTTP, congenital thrombotic thrombocytopenic purpura. This ultra-rare disease, caused by an enzyme deficiency, presents in early childhood and results in life-threatening blood clots. With their investigational drug TAK-755, a recombinant enzyme, the volume is very small, and the infusion takes four to five minutes and is a replacement therapy to allow patients to avoid daily symptoms and acute episodes. Björn explains, "What happens then is that we have our coagulation system, and many people have heard about bleeding disorders, mainly probably hemophilia, where you lack certain factors which are important to make the blood clot. TTP is on the other side of the spectrum, and the deficiency we're talking about, this ADAMTS13 enzyme, is also importantly involved in blood coagulation." "But the effect is when you don't have this enzyme present. The blood has a tendency to spontaneously form blood clots in the circulation. And these blood clots then tend to lodge in critical organs such as the brain, the heart, and the kidney, and the patients then suffer symptoms based on that." "So, our drug then represents a recombinant enzyme. So, it's a recombinant protein that is produced in a laboratory. It's exactly the same as we have in our bodies. And this kind of replacement therapy has been used for a long time. And I mentioned hemophilia as an example where Takeda and also other companies have recombinant factor VIII in that case. So, the principle behind this treatment is to give the patient what they're missing. That's pretty straightforward in some sense." #Takeda #cTTP #TAK755 #RecombinantEnzyme #RareDisease Takeda.com Listen to the podcast here
Dr. Björn Mellgård, VP and Global Program Lead of rare genetics and hematology at Takeda, is passionate about finding a cure for cTTP, congenital thrombotic thrombocytopenic purpura. This ultra-rare disease, caused by an enzyme deficiency, presents in early childhood and results in life-threatening blood clots. With their investigational drug TAK-755, a recombinant enzyme, the volume is very small, and the infusion takes four to five minutes and is a replacement therapy to allow patients to avoid daily symptoms and acute episodes. Björn explains, "What happens then is that we have our coagulation system, and many people have heard about bleeding disorders, mainly probably hemophilia, where you lack certain factors which are important to make the blood clot. TTP is on the other side of the spectrum, and the deficiency we're talking about, this ADAMTS13 enzyme, is also importantly involved in blood coagulation." "But the effect is when you don't have this enzyme present. The blood has a tendency to spontaneously form blood clots in the circulation. And these blood clots then tend to lodge in critical organs such as the brain, the heart, and the kidney, and the patients then suffer symptoms based on that." "So, our drug then represents a recombinant enzyme. So, it's a recombinant protein that is produced in a laboratory. It's exactly the same as we have in our bodies. And this kind of replacement therapy has been used for a long time. And I mentioned hemophilia as an example where Takeda and also other companies have recombinant factor VIII in that case. So, the principle behind this treatment is to give the patient what they're missing. That's pretty straightforward in some sense." #Takeda #cTTP #TAK755 #RecombinantEnzyme #RareDisease Takeda.com Download the transcript here
Huge thanks to Gaz for another rarity update. Affiliate links: Join Whatnot for amazing LIVE auctions and get $10 free just by using my referral link! https://whatnot.com/invite/residentdarrell Want to sell on Whatnot? Use my referral link! https://whatnot.com/invite/seller/residentdarrell Use promo code "Loot Bros" for 10% off at Ted's Collectibles! https://www.etsy.com/uk/shop/tedscollectibles3 https://linktr.ee/residentdarrell --- Support this podcast: https://podcasters.spotify.com/pod/show/thelootbrospodcast/support
Huge thanks to Gaz for another rarity update. Affiliate links: Join Whatnot for amazing LIVE auctions and get $10 free just by using my referral link! https://whatnot.com/invite/residentdarrell Want to sell on Whatnot? Use my referral link! https://whatnot.com/invite/seller/residentdarrell Use promo code "Loot Bros" for 10% off at Ted's Collectibles! https://www.etsy.com/uk/shop/tedscollectibles3 https://linktr.ee/residentdarrell --- Support this podcast: https://podcasters.spotify.com/pod/show/thelootbrospodcast/support
Think the Darksewer just bought a lemon that will sink the ship...
Well hello there everybody! Welcome back to another exciting episode of Trophy Talk. For the first time in over a month, the original crew is back together to discuss all your Patreon submitted questions, trophy related news stories, and an assortment of newly released trophy lists. This episode featured some great thought provoking questions for us to dissect and mull over, and we hope that you enjoy listening to us discuss them as much as we enjoyed recording our thoughts. For starters, Colin wants to know what happened with Stranded Deep. The once free with PS+ essential survival game, received a patch recently that makes the platinum easily obtainable in it's new co-op game mode. Is this something that makes sense to go after and how do we feel about this Ultra Rare platinum becoming way more obtainable? From there we discuss great book recommendations, our favorite homecooked meals, gaming soundtracks that we consistently return to, and what our dream jobs are. We dwell on these topics for quite some time as they were a lot of fun. Finally we close up shop with three trophy list reviews. Colin is optimistic about all things Capcom recently, including the Exoprimal trophy list. Slugger continues his love of rogue lite / like games with Rogue Legacy 2, and Darryl continues to find fun survival horror indie games in his review of Gylt. We sincerely thank you for listening, and for your support. We'll be back in two weeks time with a very exciting episode of what we've been playing, we'll reveal more details on that in the coming week or so. Take care, and happy gaming! =)
Nasha Fitter, CEO and Co-Founder of the FOXG1 Research Foundation and Vice President of Rare and Neurological Diseases at Ciitizen. Nasha describes the characteristics of the ultra-rare disease FOXG1 Syndrome and the global network that has been built to gain a better understanding of this neurological condition. Using real-world evidence, machine learning, AI, and genetic testing are showing a path to finding a treatment. Nasha explains, "My daughter, Amara, was diagnosed at nine months of age. She began having hundreds of seizures a day. And at that point, there was information known about the FOXG1 gene. It's a really important gene for brain development. But no one was studying the syndrome and how to find a cure for it. So, I and a group of other parents, like-minded parents who, refused to just take that this is the way it is. Our children have this condition, and that's it. We started this foundation." "We've done a lot of work to get the entire world of FOXG1 to work together and then to collect patient data. That leads to my work at Ciitizen, to have all patients join the same platform, take the same surveys, and collect electronic medical records. We extract their data, so it's all on one platform. Again, that helps us understand this disease, which is critical when the population's so small." "In-person studies, which is how we collect data today, as the medical community, don't work for ultra-rare diseases. So we have to find other ways. And that's where real-world evidence comes in." "We use machine learning and AI at Ciitizen when we're looking at something as simple as extracting data from an unstructured medical record. When you look in medical records, the part that's really interesting is the clinic notes, and they're totally unstructured. They're paragraphs. So can we start using machine learning and AI to go through these paragraphs and actually extract relevant data points to scale up our ability to understand how the disease has progressed?" #FOXG1 #FOXG1ResearchFoundation #Ciitizen #GeneTherapy #RealWorldEvidence #RareDisease #GeneticTesting FOXG1Research.org Ciitizen.com Download the transcript here
Nasha Fitter, CEO and Co-Founder of the FOXG1 Research Foundation and Vice President of Rare and Neurological Diseases at Ciitizen. Nasha describes the characteristics of the ultra-rare disease FOXG1 Syndrome and the global network that has been built to gain a better understanding of this neurological condition. Using real-world evidence, machine learning, AI, and genetic testing are showing a path to finding a treatment. Nasha explains, "My daughter, Amara, was diagnosed at nine months of age. She began having hundreds of seizures a day. And at that point, there was information known about the FOXG1 gene. It's a really important gene for brain development. But no one was studying the syndrome and how to find a cure for it. So, I and a group of other parents, like-minded parents who, refused to just take that this is the way it is. Our children have this condition, and that's it. We started this foundation." "We've done a lot of work to get the entire world of FOXG1 to work together and then to collect patient data. That leads to my work at Ciitizen, to have all patients join the same platform, take the same surveys, and collect electronic medical records. We extract their data, so it's all on one platform. Again, that helps us understand this disease, which is critical when the population's so small." "In-person studies, which is how we collect data today, as the medical community, don't work for ultra-rare diseases. So we have to find other ways. And that's where real-world evidence comes in." "We use machine learning and AI at Ciitizen when we're looking at something as simple as extracting data from an unstructured medical record. When you look in medical records, the part that's really interesting is the clinic notes, and they're totally unstructured. They're paragraphs. So can we start using machine learning and AI to go through these paragraphs and actually extract relevant data points to scale up our ability to understand how the disease has progressed?" #FOXG1 #FOXG1ResearchFoundation #Ciitizen #GeneTherapy #RealWorldEvidence #RareDisease #GeneticTesting FOXG1Research.org Ciitizen.com Listen to the podcast here
15 ultra rare & specific asmr triggers in 15 minutes for extreme tingles Hosted on Acast. See acast.com/privacy for more information.--- Support this podcast: https://podcasters.spotify.com/pod/show/jiom4/supportAdvertising Inquiries: https://redcircle.com/brandsPrivacy & Opt-Out: https://redcircle.com/privacy
It's the ULTIMATE STAKES for Isabel. No, not what college is she going to attend, or what car she's going to purchase but…SHOULD SHE GET MARRIED AT 18 AND GET STUCK IN ROSWELL FOR THE REST OF HER LIFE? (What do YOU think she chooses?)
ONCE UPON A GENE - EPISODE 189 Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton Jeff Milton is the CEO of La Jolla Labs, a cutting edge RNA therapeutics company that's developing personalized therapeutics for ultra-rare patients. They combine AI, next generation sequencing and RNA biology to generate therapeutics faster. EPISODE HIGHLIGHTS Can you tell us about yourself and the work you're doing? I've been in RNA therapeutics for 15 years. I took the opportunity to lead La Jolla Labs as CEO. We are taking the lab that was previously locked behind the doors of pharmaceutical companies and making it accessible to anyone in the world. We work directly with foundations and academic groups. We have partnered with n-Lorem Foundation to discover personalized ASO medicines for nano-rare patients. How are groups taking control over drug discovery? Parents and foundation leaders are accessing data and they're extremely motivated to learn. We provide the first step for them to determine their target and what can be done. We look at the targets and provide several options for them to research and discuss with their scientific liaisons. The cost of discovery is going down and more and more people are going to take control of the discovery. Do the patient advocacy groups that come to you have a lot of money? No, they don't. Most of the groups come to us and we design a plan for their target and disease for free. They take it and build a proposal around it. We are an incubator in that we take the targets, apply models and give it back to them to raise money for the screenings. How does AI play a role in driving rare disease? Artificial Intelligence will continue to be powerful, but access to data is the key to driving it. It takes a lot of structured data, so AI will eventually work, but there's not enough data right now. But there are things you can do right now like predicting activity for RNA, predict liver toxicity or cell activity in a rodent model. Eventually there will be enough data to link the clinical side to the early discovery side. What can parents and patient advocacy groups do to make it more efficient to access data? Clinical trials are expensive and pharmaceutical companies are resistant to doing it. If you can provide a lot of natural history data to use as their control group, that drastically lowers the cost. Being able to curate and organize that data within a foundation is hugely impactful. LINKS & RESOURCES MENTIONED La Jolla Labs https://www.lajollalabs.com/ Ionis Pharmaceuticals https://www.ionispharma.com/ n-Lorem https://www.nlorem.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!
A week before Deborah Ondrasik's daughter Gabrielle turned 1, she suffered her first seizure. Within a year, Gabrielle was diagnosed with CACNA1A-related disorder, a rare, neurodegenerative condition. At the time she was the eighth known person to be diagnosed with the disorder. We spoke to Ondrasik, who is a pediatrician, along with CACNA1A Foundation Vice President Sunitha Malepati about the CACNA1A-related disorders, how it progresses, and what the CACNA1A Foundation is doing to advance research to speed the development of treatments and a cure.
Most of know about some rare diseases that effect a fairly small number of the population. ALS for example effects around 18,000 people in the United States. Today's guest Geri Landman, is a Pediatrician and mother of three. She discovered that her third child suffers from a genetic disorder called PGAP3. She is one of only 50 known cases in the world. Today Geri brings her inspiring story of the lead up to the diagnosis and then all of the time, energy, effort, and emotion since. She and her husband are now the Founders and Directors of Moonshots For Unicorns which funds research and find cures for PGAP3 and other ultra-rare disorders. Geri also discusses some of the mind-blowing genetic advancements that are happening right now in the fight to find cures. This is a beautiful and motivating episode. Look below to see how you can find out more and get involved. Find more about Moonshots For Unicorns Your Daily Chocolate is in the top 25% of most shared, and most followed podcasts worldwide, so let's boost it up even higher. Take 10 seconds today and share the show with some friends that you know will love it, and make 2023 an even brighter year for those you care about. Please consider supporting this podcast with a modest contribution here - just hit the "support" button to continue to hear good news from big name inspiring guests - Ad free! Be sure to subscribe to the newsletter at yourdailychocolate.com for extra content and all sorts of good stuff. If you like the show, please rate and review, or share it with anyone you think would like a little good news in their life. You can also subscribe to Your Daily Chocolate on Apple Podcasts, Spotify, Google Podcasts, or your preferred platform. --- Support this podcast: https://podcasters.spotify.com/pod/show/patty-deutsche/support
While there is growing ability to pursue the development of therapies for ultra-rare diseases, they remain challenging because of economics. One major barrier is the difficulty in getting reimbursement for therapies in the absence of well-powered clinical trials that recruit enough participants to satisfy payors demands for adequate proof of the value of a therapy. The Muscular Dystrophy Association, earlier this year, awarded the nonprofit biotechnology Cure Rare Disease a grant to research novel reimbursement strategies for ultra-rare disease therapies. We spoke to Rich Horgan, founder and president of Cure Rare Disease, about the evolution of his organization, its growing pipeline of therapies, and why developing a viable reimbursement model is essential to creating sustainable development of ultra-rare disease therapies.
Casey McPherson hasn't taken a typical path to becoming a bioentrepreneur. The singer-songwriter is the frontman for Alpha Rev, an up-and-coming indie band from Austin, Texas. Rather than focus on his music career, McPherson instead put his energy into finding a treatment for his daughter Rose, who was diagnosed with an ultra-rare, neurodevelopmental condition. The issues he faced in working with academic researchers led him to co-found Everlum Bio, a rare disease lab designed to provide a range of services for ultra-rare disease patients seeking to discover treatments for their conditions. We spoke to McPherson, chief innovation officer of Everlum, about what led him to create the company, its “rare-disease-lab-as-a-service model, and how he is working to change the discovery landscape for ultra-rare disease therapies.
When Stealth Biotherapeutics sought approval for its experimental therapy to treat the ultra-rare and life-threatening condition Barth syndrome, the U.S. Food and Drug Administration said it wouldn't review its application because the clinical studies the company performed involved too few patients to make a determination about the efficacy of the drug. The notice was part of a history of interactions between Stealth and the FDA that that the company said was characterized by inconsistent guidance as it moved from division to division within the agency. We spoke to Reenie McCarthy, CEO of Stealth, about the challenges the company has faced in seeking FDA approval for its Barth syndrome therapy, the lack of consistency it found within the agency, and why this could have a chilling effect on the development of ultra-rare disease therapies if left unaddressed.
Today we discuss our first spoiler-free impressions on God of War Ragnarok, we discuss our top Ultra Rare trophies, The Perceiver, Project Cars & Dirt get canceled, N7 Day happened and how we need to get our ME2 episode out. Plus so much more! For first time visitors: We appreciate you stopping by. For returning visitors; Welcome back! We are a dedicated Weekly PlayStation Podcast called: PS This is Awesome! A PlayStation Podcast. You can stream our Podcast on your preferred podcasting service or just tune in and watch the show on YouTube! Please, if you enjoyed the content or even if you didn't quite enjoy this one, we encourage you to come back. We try to offer something for everybody. Please share with your friends and help us spread the show as we try to build a bigger community here! As always you can support our show at our Patreon Page. Thanks for listening. http://www.patreon.com/psthisisawesome 0:00 - INTRO13:07 - LISTENER FEEDBACK15:10 - PS PLUS GAME OF THE MONTH16:14 - OUR ULTRA RARE TROPHIES36:05 - GOD OF WAR RAGNAROK (GAMES WE'RE PLAYING)49:32 - GAMES GETTING SPOILED ON PLAYSTATION CONSOLES54:20 - CONTROL 2 IS CONFIRMED58:10 - DRAGON AGE: ABSOLUTION1:00:55 - THE PERCEIVER1:05:04 - GOD OF WAR COLLECTOR'S EDITION DOWNLOAD CODE ISSUES1:15:45 - KFC ADVERTISING HIT THE MARK1:18:05 - TLOU GETTING A BOARD GAME1:25:50 - PROJECT CARS & DIRT ARE CANCELED1:27:00 - N7 MASS EFFECT DAY1:30:30 - CLOSING Support PS This is Awesome! Hosted on Acast. See acast.com/privacy for more information.
Ep. 100 - Celebrating The TOP Episodes Of Ultra Rare Life In this episode of Ultra Rare Life I cover the past 100 episodes and some of your favorites! I go back and cover why I named my podcast Ultra Rare Life, some of your favorite guest speakers and their stories, hearing from doctors, business, marriage, mental wellness, and faith. Step on back with me on the last 100 episodes! You can find me on social media at: Email: ourgutinstinct@gmail.com www.instagram.com/sarahhein_ultrararelife/ https://www.facebook.com/theultrararelife/ Visit my website: https://www.ultrararelife.com/ Be sure to subscribe and catch my weekly episodes released on Monday's
On today's episode of The New School Project the guys discuss a NASA space probe that will soon be doing a flyby over Jupiter's moon Europa, a “one in a million” black bear with a genetic mutation, and 140+ protesters killed in Iran.
Whoa, Shuhei! We've got a lot to talk about. Stack it up! Join Tricky, Alex,...
In this week's episode we spotlight the fairy tale Hedemora chicken, discuss failure to thrive in chicks, and chat with UK breeder Kate Whyld about keeping ultra rare breed chickens and working on an MA in Poultry Science from Edinburgh University. We also share our recipe for fresh and delicious strawberry mousse, and provide some retail therapy from Chewy!Our sponsor, Grubbly Farms, is offering our listeners 25% off your purchase for first time buyers! That's a fantastic value! This offer does not apply to subscriptions and cannot be used with any other discounts. Click here for our affiliate link and use our code COFFEELADIES25 to get your discount.Chicken Luv Box - use CWTCL50 for 50% off your first box!https://www.chickenluv.com/Hedemora Chicken - Greenfire Farmhttps://greenfirefarms.com/hedemora.htmlHedemora Chicken - Sugar Feather Farmhttps://www.sugar-feather.com/product/hedemora-chicken/Strong Animals Chicken Essentialshttps://www.getstronganimals.com/Kate Whyld - Hens on Oxneyhttps://hensonoxney.co.uk/Hens on Oxney Instagramhttps://www.instagram.com/hensonoxney/?hl=enHens on Oxney Facebookhttps://www.facebook.com/hensonoxney/Poly Vi Solhttps://amzn.to/3LCGoOfAs Amazon affiliates, we receive a small commission from purchases of the item above.Strawberry Moussehttps://coffeewiththechickenladies.com/farm-fresh-egg-recipes/strawberry-mousse/Chewyhttps://www.chewy.com/s?query=chickens&nav-submit-button=CWTCL Websitehttps://coffeewiththechickenladies.com/CWTCL Etsy Shophttps://www.etsy.com/shop/CoffeeWChickenLadiesCWTCL Amazon Recommendationshttps://www.amazon.com/shop/coffeewiththechickenladiesSupport the show (https://www.patreon.com/coffeewiththechickenladies)
Stan Crooke has been in the drug development game for a long time. He is the founder of Ionis Pharmaceuticals and now he has pioneered a method to develop and provide medicines to Ultra Rare communities of 30 patients or less. This idea blew our minds and I think you will enjoy hearing from Stan.