Podcasts about Epidermolysis bullosa

In the first installment of PeDRA's 2026 educational series – Research in Action: Advancing Care for Epidermolysis Bullosa (EB), Dr. Peter Marinkovich of Stanford University provides a timely overview of emerging therapies and clinical research in EB, including gene therapies, cell-based approaches, inflammation-targeted treatments, and strategies to improve wound care and long-term outcomes. Dr. Marinkovich includes an excerpt from Aaron Owens, a dystrophic EB patient who participated in a clinical trial. Designed for clinicians, researchers, patients, caregivers, and others involved in EB care, this program highlights recent progress in the field and the collaborative work driving better treatment options for patients.Click here to view the video version of this webinar.Special thanks to BioMendics, Castle Creek Biosciences, Chiesi, and Krystal Biotech for their support of the 2026 EB Educational Series. PeDRA is solely responsible for all program content and the selection of all presenters, authors, moderators, and faculty.

Welcome to the Hot Topics podcast from NB Medical with Dr Neal Tucker. Lots going on in this new episode! Three new pieces of research and an interview with Dr Anna Martinez, consultant paediatric dermatologist at GOSH, talking about a skin fragility condition many of us may not have heard of before - epidermolysis bullosa - in conjunction with DEBRA, the leading charity for EB awareness and research. In research, we look at two papers published this week in finerenone. Does it have a role in CKD management in patients without diabetes, and if so, how good is it?Second, retatruide - the latest injectable weight loss medication making a splash across the headlines - could it be used as monotherapy for recent onset type 2 diabetes?ResourcesNB Medical Epidermolysis bullosa free online educational moduleDEBRANEJM Finerenone for CKDLancet Finerenone MALancet Retatrutide for early T2DMwww.nbmedical.com/podcast

Looking for the latest research on epidermolysis bullosa (EB)?  We've got just the expert! This week, we're joined by Dr. Mercedes Gonzalez as she jumps into her team's pediatric dermatology research and their look at epidermolysis bullosa. Listen in as she discusses the historic progress in EB treatments and what that means for patients. Each Thursday, join Dr. Raja and Dr. Hadar, board-certified dermatologists, as they share the latest evidence-based research in integrative dermatology. For access to CE/CME courses, become a member at LearnSkin.com. Dr. Mercedes E. Gonzalez is a board-certified pediatric dermatologist at DERM360 and Medical Director of Pediatric Skin Research in Miami, Florida. She serves as Assistant Professor of Dermatology at Florida International University Herbert Wertheim College of Medicine and the University of Miami Miller School of Medicine. A graduate of Emory University and Rutgers–New Jersey Medical School, she completed her pediatrics residency at Columbia University and dermatology and pediatric dermatology training at NYU. Dr. Gonzalez is Principal Investigator on multiple clinical trials, co-editor of three dermatology textbooks, and a Director on the American Board of Dermatology, where she chairs the several committees. Sponsored by: Chiesi Medical AffairsVisit Chiesi Medical Affairs website for more information.

In this episode of PeDRA Pearls, Jenn Dawson is joined by PeDRA Executive Director Mike Siegel and Outcomes Committee Chair Dr. Marcia Hogeling to recap key themes from the Society for Investigative Dermatology (SID) meeting. They discuss emerging trends in dermatology research, including the growing role of genetics, molecular diagnostics, multi-omics, and biologic therapies, as well as highlights from PeDRA's featured session on vascular anomalies, rare skin diseases, and RIME. The conversation also explores the importance of patient advocacy, collaboration between clinicians and basic scientists, and the exciting future of pediatric dermatology research.Announcements:Register for the Epidermolysis Bullosa webinar with Dr. Peter MarinkovichRegister for the 14th PeDRA Annual Conference

https://nobabyblisters.org/Choosing the right shoes for babies with Epidermolysis Bullosa can reduce painful blistering and transform daily life. Learn about smooth interiors, breathable materials, and sizing strategies, plus expert tips on breaking in new footwear safely. No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

Epidermolysis bullosa has no cure yet. Discover the hidden financial and emotional toll on families, the daily realities of wound care, and why specialized support and medical supplies can mean the difference between suffering and survival for children with EB. Learn more at https://nobabyblisters.org/ No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

https://nobabyblisters.org/#1Learn how caregivers manage Epidermolysis Bullosa at home - from wound care and pain relief to surprising environmental hacks like cool roofs and pressure-distributing seating. Practical strategies that genuinely improve daily life for EB patients. No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

Discover the devastating realities of epidermolysis bullosa, a genetic skin disorder with fatal risks. Learn about new awareness efforts, daily care challenges, and how families manage blisters, infections, and life-threatening complications. Access more information at https://nobabyblisters.org/ No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

https://nobabyblisters.org/hero-guardian-angel-team/Discover how high-calorie, nutrient-dense diets help children with Epidermolysis Bullosa heal wounds, manage pain, and grow. Learn practical strategies from food fortification to anti-inflammatory eating that caregivers can use today. No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

Epidermolysis Bullosa, or Butterfly Skin Disease, causes fragile skin and painful blistering in babies from the slightest touch. Learn the early warning signs parents must recognize. Read more at https://nobabyblisters.org/#whatiseb No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

https://nobabyblisters.org/updates/Discover the hidden reality of Epidermolysis Bullosa, a rare genetic disease where even a hug can cause life-threatening blisters. Hear powerful family stories and learn why affordable cures remain elusive for thousands of suffering children worldwide. No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

“You are a slightly different genetic version of yourself today from yesterday, and will be different yet again tomorrow.”—Roxanne Khamsi“Each neuron really is a beautiful and unique snowflake”—Ed YongRoxanne Khamsi is one of the leading life science journalists, a contributing writer at The Atlantic, recognized with multiple awards for notable publications. Her new book is entitled BEYOND INHERITANCE. It tells the story about us all being genetic mosaics, chock full of somatic (acquired) mutations, and the implications of those mutations for our health. The myth of a single genome, carbon copy, master blueprint, but instead a dynamic, shifting mosaic in constant internal evolution.And here's the back cover. I was delighted to endorse this book, and reread it to prepare for our podcast. It's extraordinary and mind-bending.Here are the topics we covered:—The Math. 330 billion cells of our ~37 trillion turnover each day, which yields trillions of mutations per day.—Cellular competition. Winners and losers of an “endoevolution,” Darwinian selection inside us whereby healthy or super-fit mutated cells can crowd out the unfit ones.This was theorized in 1881 in a book THE STRUGGLE OF PARTS, by Wilhelm Roux which led to Friedrich Nietzsche's famous quote “Uniformity is pure delirium.”—Single-cell sequencing. How this field catapulted forward owing to the ability to zoom in on genomic mutations at the cellular level.—Cancer chemotherapy overkill. The routine scorched earth, carpet bombing approach can promote resistance and deleterious mutations, leading to an adaptive strategy of leaving some cancer cells behind, as has been shown to be effective in prostate cancer for improving survival.—The immune system somatic hypermutation. B cells have the theoretical capacity to produce 1 quintillion unique antibodies (a million trillion). If this weren't possible, we could die from a common cold. In the Covid pandemic, even before the Omicron variant appeared, Covid booster shots induced hundreds of unique antibodies with neutralization capacity against Omicron. The anticipatory “Red Queen” effect.—Autocorrection of mutations. They can revert, cure a rare genetic disease from within. It can be considered “Natural Gene Therapy.” Example below of a skin condition Epidermolysis Bullosa with revertant mutations (→ normal skin appearance)—Different role of acquired mutations through the lifespan. Examples: At embryonic stage, Lines of Blaschko (Image below). In mid-life endometriosis, and in older adults Loss of the Y chromosome (LOY) and Clonal Hematopoiesis of Indeterminate Potential (CHIP). Note these 2 somatic mutation clone conditions are associated with risk of diseases; CHIP-cardiovascular and cancer; LOY-heart failure and Alzheimer's. I've written about CHIP extensively here and here. —Phenocopy. How a somatic mutation can look the same as a germ-line, inherited mutation, with respect to a disease, and how that is determined. —Environmental effects inducing somatic mutations: UV light, air pollution, plastics—and 3 new papers in the past week!* Somatic mutations in the microglia cells of the brain, same as cancer mutations, drive inflammation and are enriched in the Alzheimer's brain 2.. The potential of “promolytic drugs” to be used to prevent cancer in people who exhibit precancerous somatic mutations 3. How somatic mutations can be the basis of autoimmune diseasesWe also spoke about the role of somatic mutations in aging and super agingA related excerpt at The Atlantic A Quick PollThank you YOUR DOCTOR KLOVER, Stephen Pribut, Elizabeth J., Maureen Susannah, Gretchen Faucett, and more than 500 others for tuning into my live video with Roxanne Khamsi! Join me for my next live video in the app.And a big thanks to Ground Truths subscribers (> 205,000) from every US state and 212 countries. Your subscription to these free essays and podcasts makes my work in putting them together worthwhile. Please join!If you found this interesting PLEASE share it!Paid subscriptions are voluntary and all proceeds from them go to support Scripps Research. They do allow for posting comments and questions, which I do my best to respond to. Please don't hesitate to post comments and give me feedback. Let me know topics that you would like to see covered.Many thanks to those who have contributed—they have greatly helped fund our summer internship programs for the past two years. We just accepted 51 interns for the 2026 summer, a new record, from thousands of high school, college, and med school student applicants. Our fully loaded cost to do this program is ~$300,000 per year. 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Most people have never heard of Epidermolysis Bullosa, a rare genetic disease that causes children's skin to blister and tear at the slightest touch. Learn how a growing campaign is delivering bandages, pain medication, and emergency care to forgotten kids around the world. Visit https://nobabyblisters.org/ No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

Epidermolysis Bullosa is a rare genetic condition that makes children's skin blister and tear from the slightest touch. Find out what daily life looks like for these kids and how direct donations can make a life-saving difference. More at https://nobabyblisters.org/donate/ No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

Discover how children with Epidermolysis Bullosa live with skin so fragile it blisters at a touch, and why donor-funded medical supplies and gene therapy research may be their best chance at relief and a cure. Learn more at https://nobabyblisters.org/updates/ No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

Discover the life-saving care that babies with Epidermolysis Bullosa need to survive. From pain management breakthroughs to practical home strategies, we explore how families navigate this rare, incurable genetic condition—and what research offers for the future. Learn more at https://nobabyblisters.org/updates/ No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

After the life threatening skin disease Epidermolysis Bullosa affected a family friend, Pearl Jam frontman Eddie Vedder and his wife Jill founded an organization to help find a cure. That was 15 years ago, and today, they hope they are close to succeeding. Their journey is documented in a new concert film called Matter of Time which follows both Eddie and Jill's story and several kids living with EB. Canadian director Matt Finlin spent years putting the film together. Both Eddie and Matt joined Tom Power to talk about “the worst disease you've never heard of” and how art can uplift and heal, even when the world feels hopeless.

Darren James spoke with Simone Baird at the Brighter Days Festival.See omnystudio.com/listener for privacy information.

Discover how specialized medical care is transforming outcomes for babies with Epidermolysis Bullosa, a rare genetic condition causing fragile skin and extreme pain. Learn about wound management, research breakthroughs, and hope for families facing this challenging diagnosis. Read more at https://nobabyblisters.org/#1 No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

Discover how families navigate the daily challenges of caring for infants with Epidermolysis Bullosa, a rare genetic skin disease. Learn practical tips to reduce pain and improve the quality of life for affected children.Visit https://nobabyblisters.org/ No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

https://nobabyblisters.org/hero-guardian-angel-team/Learn what it's like to care for someone with Epidermolysis Bullosa, a rare genetic condition causing extreme skin fragility. Hear about daily wound care, the emotional toll on families, and the promising future of gene therapy research. No Baby Blisters City: Colorado Springs Address: 731 Chapel Hills Drive Website: https://nobabyblisters.org/

The Great Rosary Campaign is an ongoing prayer and penance campaign for the conversion and strengthening of both Catholic and non-Catholic leaders.THIS WEEK of the Great Rosary Campaign, we will pray for John Hudson Dilgen, a young man suffering from the horrible disease of Epidermolysis Bullosa, which causes the skin all over his body to break out into sores and wounds. John's moving story went viral several years ago, but it now sounds as if his health may be taking a turn for the worse. He has been an incredible example of suffering with dignity, grace, and hope. Let us pray, especially if he is nearing the end of his life, that he has all the graces necessary to spend eternity with Christ.The SUGGESTED PENANCE this week is a Holy Hour before the Blessed Sacrament, the Holy Eucharist.In these dark times, we must fight evil with the most powerful weapons we have. The Rosary is foremost among them. Join the Great Rosary Campaign today at: www.GreatRosaryCampaign.com.Countless Saints and Popes have told us that the Rosary is incredibly powerful for three things in particular:Keeping the FaithMoral renovationConversions of non-CatholicsThe Great Rosary Campaign is also based on several biblical themes and principles.First, PRAY FOR OUR BRETHREN. “Pray for one another…” (Jas. 5:16). “So then, as we have opportunity, let us do good to all men, and especially to those who are of the household of faith" (Gal. 6:10).Second, PRAY FOR OUR ENEMIES. “You have heard that it was said, ‘You shall love your neighbor and hate your enemy.' But I say to you, Love your enemies and pray for those who persecute you, so that you may be sons of your Father who is in heaven" (Matt. 5:43-44).Third, PRAY FOR ALL MEN, PARTICULARLY LEADERS AND THOSE IN AUTHORITY. “First of all, then, I urge that supplications, prayers, intercessions, and thanksgivings be made for all men, or kings and all who are in high positions…” (1 Tim. 2:1-2).Fourth, GOING INTO BATTLE WITH THE ARK. When the ancient Israelites came to Jericho, God didn't tell them to besiege the city. Instead, He told them to march around it with the Ark of the Covenant seven times, and on the seventh the walls would fall. We will now "march" in prayer for seven days with the New Ark of the Covenant, Our Lady, through the Rosary. We pray in hope that on the seventh day, a day especially devoted to Our Lady (Saturday), extraordinary graces of conversion will be given to those we are praying for.Fifth, EVANGELISM AND APOLOGETICS = LOVE + ARGUMENTS + PRAYER + PENANCE. Ultimately it is God who reveals Himself to a soul, and empowers them to say "yes" to Him by His grace. He chooses to use us, but He does not have to. We must remember that as we evangelize and defend the Faith, our arguments will be fruitless unless informed by love (charity), and reinforced by prayer and penance.Sixth, RETURNING GOOD FOR EVIL. “Do not return evil for evil, or reviling for reviling; but on the contrary bless, for to this you have been called, that you may obtain a blessing" (1 Pet. 3:9).Sign up to take part in the Great Rosary Campaign today: www.GreatRosaryCampaign.com

In this episode, nurse practitioner Nichole Halliburton from Cincinnati Children's Hospital shares practical, real-world guidance on managing epidermolysis bullosa (EB). She breaks down EB subtypes, key stages of wound healing, and everyday challenges patients and caregivers face. Nichole offers actionable strategies for bathing, blister care, dressing changes, and the use of birch triterpenes in wound management. She also highlights the emotional and logistical burden of EB and the importance of support, education, and individualized care. This conversation is a helpful resource for clinicians, caregivers, and anyone involved in EB care. This podcast is being hosted by PeDRA and sponsored by Chiesi. PeDRA will evaluate content for suitability for its audience, but is not responsible for creating content, selecting speakers, or delivering presentations. Learn more about Nichole Halliburton, MSN, APRN-CNP

Hosted in partnership with Chiesi, Dr. Joyce Teng and Dr. Emily Gorell share their real-world clinical experiences, highlighting how birch triterpenes may work to accelerate wound healing, reduce inflammation, and potentially improve quality of life for patients living with dystrophic and junctional epidermolysis bullosa (EB). The program also touches on the importance of wound preparation, combinatorial approaches to therapy, and holistic care approaches for these patients.This is an audio version of a webinar that includes slides. To view the slides referenced in this program, please click here.A complete list of guests' disclosures can also be found here.This webinar is being hosted by PeDRA and sponsored by Chiesi. PeDRA will evaluate content for suitability for its audience, but is not responsible for the creation of content, selection of speakers, or delivery of presentations. For a complete list of presenter disclosures, please click on the presenters' photographs.

Emma Fogarty is the oldest living Irish person born with Epidermolysis Bullosa: an extremely rare and painful disease.When she was born, she wasn't expected to live beyond a week, yet 41 years later she has just released a book called ‘Being Emma: Living my best life with Butterfly Skin' in which she details the resilience she and those around her have shown throughout her extraordinary life…She joins Andrea to discuss.

Intercounty Donegal footballer, Ellie Ward, told Oliver how she came to GAA quite late because growing up her parents were advised to keep her away from contact sports because of her skin condition called EB, Epidermolysis Bullosa also known as Butterfly skin+

Welcome to the Sterile Technique Podcast! It's the podcast about Surgical Technology. Whether you are a CST or CSFA, this podcast helps you earn CE credits and improve your surgery skills in the OR. This episode discusses an article in the September 2016 issue of The Surgical Technologist, the official journal of the Association of Surgical Technologists (AST). The article is titled, "Treating the Epidermolysis Bullosa Patient". "Scrub in" at steriletpodcast.com and on Twitter, @SterileTPodcast (twitter.com/SterileTPodcast). This podcast is a Dybas Media production. Sound effects adapted from GarageBand and sindhu.tms at https://freesound.org/people/sindhu.tms/sounds/169065/ and licensed courtesy of https://creativecommons.org/licenses/by-nc/3.0/.

Rinvoq approved for giant cell arteritis; telehealth companies collaborate with Novo Nordisk for Wegovy access; epidermolysis bullosa wound healing treatment approved; Imaavy approved for gMG; New nasal powder approved for migraine treatment.

Adam Cox hosts a special episode of 'Under the Skin', and he is joined by Chirs Griffiths OBE. This episode looks at highlighting the effects of people living with Epidermolysis Bullosa, the condition, treatments, drug breakthroughs as well as discussing other skin conditions. https://www.debra.org.uk/ 

In episode fourteen, PeDRA Pub Club host Hannah Chang, and guest panelists, Kalyani Marathe, MD, Cristy Garza-Mayers, MD, PhD, and Allison Miller, MD discuss a recent PeDRA publication, Transition of Care in Adolescents with Epidermolysis Bullosa: The Provider Perspective published in Pediatric Dermatology in 2024. Whether you're a longtime pediatric dermatologist, currently in training, or a patient or advocate who wants to learn more about the latest research in pediatric dermatology, this podcast is for you. Through a structured roundtable discussion, listeners will gain valuable insight into publications relating to pediatric dermatology and understand what this research means for both patients and providers.

On this edition of TMWS, I have Sylvia Corradin sharing her personal experience with her son, Nicky, and the EB community. Listen & share.

As an artist, you'll eventually face donation requests to have your art auctioned off for a good cause. And while it is an absolute honor, how do you decide which requests to accept — and which to politely decline?  In this episode, I'm sharing the art of setting boundaries and making thoughtful decisions when it comes to donating your work. Because yes, donating your art can be incredibly rewarding — but only if you approach it with intention and clarity.  Make sure to subscribe to this podcast so you don't miss a thing! And don't forget to come hang with me on Instagram @jodie_king_. Interested in being a guest on a future episode of Honest Art? Email me at amy@jodieking.com! Resources mentioned: Applications are now open for Studio Elite: https://www.jodiekingart.com/studioelite Epidermolysis Bullosa: https://www.ebresearch.org/ Yellowstone Academy: https://yellowstoneschools.org/     Susan G Koman: https://www.komen.org/support-resources/tools/komen-education-materials/ National Breast Cancer Foundation: https://www.nationalbreastcancer.org/   Subscribe to my Patreon for as little as $1 a month and get access to additional art career resources: patreon.com/honestartpodcast  How are you liking the Honest Art Podcast? Leave us a review on your favorite podcast platform and let us know!     Watch this full episode on my YouTube channel: https://www.youtube.com/channel/UC64Vn6NF5BfiwLNTSb_VnDA  For a full list of show notes and links, check out my blog: www.jodieking.com/podcast    

This is the second episode of a two-part educational series to raise awareness of epidermolysis bullosa (EB) and the latest FDA-approved treatment options for this disease. Our host, Dr. Michael Lavery, a Pediatric Dermatologist and Clinical Assistant Professor at the University of Florida in Gainesville, FL, is joined by Dr. Joyce Teng, MD, PhD, Professor of Dermatology and Pediatrics at Stanford University School of Medicine in Stanford, CA, as they discuss the following topics: Setting the stage for treating a patient with EB Assessing EB severity and subtype to inform treatment Expert review of the current FDA-approved treatments and Strategies to close care gaps for EB patients

This is the first episode of a two-part educational series to raise awareness of epidermolysis bullosa (EB) and the latest FDA-approved treatment options for this disease. Our host, Dr. Joyce Teng, MD, PhD, Professor of Dermatology and Pediatrics at Stanford University School of Medicine in Stanford, CA, is joined by Dr. Michael Lavery, a Pediatric Dermatologist and Clinical Assistant Professor at the University of Florida in Gainesville, FL, as they discuss the following topics: Epidemiology and prevalence of EB Burden of disease and impact on patients' quality of life Gaps and challenges for patients with EB Assessing the current knowledge of clinicians and gaps in care recommendations

Join Little Ed as he interviews two very special guests, Robbie Twible and JJ Lawlor.  Robbie joins us to tell us his story with EB and the every day struggles that come along with it.  JJ, Robbie's cousin-in-law, will be running in the NYC Marathon on 11/3/24 on the EB Research Team to raise money on Robbie's behalf.  Please join us in donating any amount you can or share it on your socials:https://give.ebresearch.org/fundraiser/5761641Or you can find the link on our Socials#EBResearch ‪@EBResearch on InstagramFollow Us:Instagram: @rangers_ed.podhttps://www.instagram.com/rangers_ed.pod/Youtube: Rangers Ed. Podcasthttps://www.youtube.com/@rangersed.podcastX: @rangers_edpod https://twitter.com/rangers_edpodX: @RangersEd150 (Mikey150's around the league) https://twitter.com/RangersEd150X: @CoachEd77 (Coach Ed's thoughts and texts from the group chat) https://twitter.com/CoachEd77Facebook: Rangers Ed Podcast

Novelette is 38 year old woman, living with a life limiting illness, called Epidermolysis Bullosa. I have the Recessive Dystrophic form of Epidermolysis Bullosa, RDEB. I live in Canada. I have a specialist in philosophy from the University of Toronto. Since 2018, I have been a trained hospice and peer bereavement Volunteer. I co-facilitate a lot of peer bereavement groups. I do a lot of mindfulness for grieving loss groups. I also help with training new hospice and peer bereavement volunteers. I've also volunteered as a hospice care companion to others, living with a life limiting illness.  I enjoy writing poetry and painting. Talking walks in nature. And I enjoy spending time with my nieces and nephew and caring for my cat.

Imagine giving birth to a baby girl and noticing pieces of skin missing from her body almost immediately.  For Sharmila Nikapota, this was the case with her firstborn, Sohana. Genetic testing revealed that she was one of the over 500,000 people globally suffering from Epidermolysis Bullosa (EB), a “constantly painful and debilitating” skin condition where minimal contact can lead to blisters, wounds, tissue damage, eating difficulties, and eye injuries, among other symptoms. After seeking answers for her daughter's prognosis and not getting any, Sharmila started Cure EB to educate people and eventually discover ways to manage this painful condition. With the UK approving a first-of-its-kind topical treatment for EB, she hopes it's the first of many that can give patients like her daughter a better quality of life.Join Sharmila as she discusses how Sohana's experience with EB has shaped her personality, the origin and mission of Cure EB, the challenges of managing Sohana's condition, and what you can do to further Cure EB's ultimate goals.Show Notes Cure EB - Accelerating Research to End Painful SkinBirch Bark Extract: A Review in Epidermis BullosaCharles River | Cell and Gene TherapyCharles River | Rare DiseaseEureka Blog | Living RareKrystal Biotech Touts Topical Gene Therapy Uptake

In episode two, PeDRA Pub Club host, Donglin Zhang and guest panelists, Christina Boull, MD, Diana Reusch, MD, and Cristina Foschi, MD, discuss a recent PeDRA publication, Assessing Pain Catastrophizing and Functional Disability in Pediatric Epidermolysis Bullosa Patients. This study was originally published in May 2023 in Pediatric Dermatology. Whether you're a longtime pediatric dermatologist, currently in training, or a patient or advocate who wants to learn more about the latest research in pediatric dermatology, this podcast is for you. In an approachable roundtable discussion, listeners will gain insight into publications relating to pediatric dermatology and learn what the research means for patients and providers.

In today's episode we get LOUD with Lily as she discusses what having EB is like and how her love for makeup and beauty helped her build confidence and break down beauty standards. Let's get LOUD!Watch this episode on YouTube: https://youtu.be/twQL9P_50IUFollow Lily on TikTok: https://www.tiktok.com/@grwmwithlily8?lang=en

How can novel therapies improve the lives of your patients with epidermolysis bullosa (EB)? Credit available for this activity expires: 3/28/25 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/1000534?ecd=bdc_podcast_libsyn_mscpedu

Alopecia Areata Incognita, Epidermolysis Bullosa Simplex & Pili Torti Lottie lives in West Yorkshire. She has a rare skin condition called epidermolysis bullosa simplex, which she has had since childhood, which had a big impact on her life. Then just as that started to improve, at the age of 14 she developed alopecia areata incognita. She also has pili torti. She began working in the hair loss industry when she was asked to take over Verve hair loss salon in 2020, where she used to be a client. The owner wanted to choose someone to hand the business over to who had experience of hair loss and also an interest in business. She now runs the salon with her mum.Lottie is also now studying with the institute of Trichology, where she is enjoying learning more about her conditions within her course.We discuss her conditions, what they are and how they impact her day to day life, how she has dealt with her alopecia and the strategies she has employed such as psychotherapy.She also shares her decision to change from a fitted hair system to wearing wigs, to give her more choice and freedom, and how her Instagram account has helped her come to terms with being hair free.Connect with Lottie:InstagramVerve hair lossInstagram Hair & Scalp Salon Specialist course Support the showConnect with Hair therapy: Facebook Instagram Twitter Clubhouse- @Hair.Therapy Donate towards the podcast Start your own podcastHair & Scalp Salon Specialist Course ~ Book now to become an expert!

For the AMA Style cheat sheet learnamastyle.com See the full write ups for today's episode at nascentmc.com/podcast Here are the highlights:  Test for Risk of Opioid Addiction:The FDA has approved AvertD by SOLVD Health, a test for assessing opioid addiction risk in individuals over 18, using genetic variants to evaluate addiction risk before prescribing oral opioids for acute pain; however, it's met with skepticism and not intended for chronic pain patients. https://www.cnn.com/2023/12/20/health/opioid-use-disorder-test-avertd/index.html https://avertdtest.com/  Filsuvez for Junctional Epidermolysis Bullosa:Filsuvez, a birch triterpenes topical gel, received FDA approval for treating Junctional and Dystrophic Epidermolysis Bullosa (JEB/DEB) in individuals aged 6 months and older, marking the first FDA-approved therapy for JEB's partial thickness wounds and a significant advancement in managing this debilitating skin disorder.https://resources.chiesiusa.com/Filsuvez/FILSUVEZ_PI.pdf Budesonide for IgA Nephropathy:Budesonide (Tarpeyo) received full FDA approval for reducing kidney function loss in adults with IgA nephropathy (IgAN), targeting specific antibodies implicated in IgAN based on phase 3 NefIgArd clinical trial data, marking the first FDA approval for IgAN treatment based on kidney function measures. https://www.tarpeyo.com/prescribinginformation.pdf Eplontersen for hATTR Polyneuropathy:Eplontersen (Wainua) was approved by the FDA for treating polyneuropathy in adults with hereditary transthyretin-mediated amyloidosis (hATTR-PN), based on the NEURO-TTRansform Phase III trial, and is the only hATTR-PN treatment that can be self-administered via an auto-injector. https://pubmed.ncbi.nlm.nih.gov/37768671/ https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217388s000lbl.pdf NRX-101 for Complicated UTI:The FDA cleared an Investigational New Drug application for NRX-101, a D-cycloserine and lurasidone blend developed by NRx Pharmaceuticals for treating complicated urinary tract infections, with a pending request for Qualified Infectious Disease Product designation. https://www.prnewswire.com/news-releases/nrx-pharmaceuticals-announces-fda-clearance-of-its-investigational-new-drug-ind-application-for-nrx-101-in-the-treatment-of-complicated-urinary-tract-infections-302017523.html?utm_source=pocket_saves Gefapixant for Chronic Cough:Merck's gefapixant, a selective antagonist of P2X3 receptors for treating chronic cough, was rejected by the FDA for the second time due to insufficient evidence of effectiveness in treating refractory or unexplained chronic cough in adults. https://www.businesswire.com/news/home/20231220302305/en/Merck-Provides-U.S.-Regulatory-Update-on-Gefapixant V116 for Invasive Pneumococcal Disease:Merck's V116, a 21-valent pneumococcal conjugate vaccine, was accepted by the FDA for priority review to prevent invasive pneumococcal disease in adults, based on STRIDE-3 Phase 3 trial data, with a target action date set for June 17, 2024. https://www.merck.com/news/fda-grants-priority-review-to-mercks-new-biologics-license-application-for-v116-an-investigational-21-valent-pneumococcal-conjugate-vaccine-specifically-designed-to-protect-adults Sotorasib in NSCLC:Lumakras (sotorasib), already under accelerated approval for KRASG12C-mutated non-small cell lung cancer (NSCLC), faces uncertainty for full FDA approval after an advisory committee voted against it, though it will remain available for clinical use.https://www.onclive.com/view/codebreak-200-sotorasib-in-second-line-kras-g12c-mutated-nsclc nascentmc.comlearnAMAstyle.com

In Barbours Cut, novelist Nancy E. Potter has combined family lore, documented facts, and her imagination to create this largely factual, story of her ancestors. Potter's great-grandfather, Clyde A. Barbour, a determined young man with boundless ambition, lived and worked on his family's flatboat on the Mississippi River before becoming a steamboat captain. A self-educated man of culture with a passion for architecture, design, and the arts, Clyde grew into a successful businessman and pioneer of American industry and development. With his beloved wife,Jennie, by his side, he built a life for his growing family that provided them with opportunities and life experiences even beyond what even he had imagined. In his colorful life Barbour dealt with significant life challenges among them family alcoholism, infidelity, jealousy and many other dangers, such as dealing with Mexican revolutionaries. He enhanced the lives of many of those around him, as well as many he had never met.Nancy E. Potter was born in New Orleans, Louisiana. At the age of nine, she moved with her family to Europe. While spending five wonderful years abroad, Potter gained an appreciation for people from very different cultures. After graduating from college, Potter moved to Washington, D.C., to work on Capitol Hill and at the White House in the Office of Communications. Her entrepreneurial mindset led her into the garment industry, where she designed fashionable maternity clothes. One of Potter's sons was born with a rare genetic skin disease called Epidermolysis Bullosa (often referred to as E.B.). Out of her son's many years of pain, she learned to marvel at the little thing he could accomplishand gained great compassion for those with special needs and their caregivers. Her son is now 30 and doing well. To raise awareness and funds for much-needed research, she put on the first-ever major fundraisers for E.B. in the1990s, and continues to work to bring awareness to the disease. Please consider donating to this organization by visiting www.debra.org.

First oral antiviral approved for COVID-19; First topical treatment approved for epidermolysis bullosa; Xacduro gets green like for bacterial pneumonia; New nasal spray for opioid overdoses; Child cough suppressant recalled.

Dean Clifford has defied the odds and overcome numerous challenges to become one of the world's best weightlifters. Dean was born with epidermolysis bullosa, a rare genetic condition that causes his skin to blister and tear at the slightest touch. Despite this, Dean has managed to double his life expectancy and has become an inspiration to many and a wonder to the medical community. He talks about the challenges he has faced growing up with skin difference, including being unable to play many sports due to the fragility of his skin. Dean's story is one of resilience, determination, and the power of the human spirit to overcome adversity. He talks about his journey and how he has managed to achieve so much despite his condition. Dean socials: https://www.instagram.com/itsdeanclifford/?hl=en https://www.linkedin.com/in/dean-clifford-4820ab32?originalSubdomain=au Check out this video on YouTube fully captioned: https://youtu.be/jHbxfLarcAU Join the 10,000+ legends on Instagram: @ListenABLE_ Podcast https://www.instagram.com/listenable_podcast/ Grab our first merch release at our website From Your Pocket https://fromyourpocket.com.au/work/listenable/merchSee omnystudio.com/listener for privacy information.

Heather Fullmer will never forget seeing her nursing license for the first time and realizing the date of issuance was the same as her son Michael's birthday.  She had spent the week since delivering him in the NICU as Michael's struggle with the rare, life-limiting skin disorder Epidermolysis Bullosa began. “It was a surreal moment. I became a nurse professionally, and in my personal life on the exact same day,” she tells host Shiv Gaglani.  EB is a pernicious disease which causes skin to tear at the slightest touch, with resulting wounds that don't heal. “If I had to sum up Michael's day,” says her husband, Ryan Fullmer, “it's probably fear and pain. We still haven't been desensitized to his screams, or the disappointment on his face from not being able to enjoy the day-to-day things that he sees his friends do.” In this inspiring episode of Raise the Line, you'll learn how the Fullmers rose above their all-consuming struggles to care for Michael to forge a new approach to rare disease research with the support of Pearl Jam singer Eddie Vedder and his wife, Jill. The resulting EB Research Partnership raises millions of dollars a year to fuel promising efforts to find a cure for EB and, ultimately, other rare diseases. Tune in to learn how the “venture philanthropy” model they use differs from typical investing, and hear about important fundraising events for EB including Venture Into Cures hosted by Spiderman actor Tom Holland. And be sure to stay tuned to hear their advice to medical providers on the importance of building rapport with patient families, and taking an interdisciplinary approach to treating rare disorders. Mentioned in this episode:https://www.ebresearch.org/founders.htmlhttps://www.ebresearch.org/our-mission.htmlhttps://www.ebresearch.org/venture-into-cures.htmlMikey's World video

Imagine 60% of your skin having open wounds every day. That's the grim reality of those with Epidermolysis Bullosa, or EB, a rare genetic connective tissue disorder which results in blisters and tears to the skin being created from even minor contact or friction. The range of complications this causes for almost every normal activity – from eating to bathing to sleeping – is daunting, leading our guest today, Brett Kopelan, to call EB “the worst disease you've never heard of.”  He should know. Brett and his wife have the equivalent of fulltime jobs just managing daily care for their daughter Rafi, who suffers from a severe form of EB.  Advocating for Rafi led to Brett becoming Executive Director of debra of America, the only national not-for-profit providing all-inclusive support for patients battling the disease.  In this revealing discussion with host Shiv Gaglani, Brett opens up about his frustrations with the health insurance system, the challenges of raising money for rare diseases, and why he feels there is a need for more doctors to specialize in rare disorders for patients over twenty-three.  Brett shares some positive news as well about several promising gene therapies on the horizon. “I can say that the past two years has really been the first time that I've felt I'm working for my child's life, not for beyond her. So that's an exciting thing.”Mentioned in this episode: https://www.debra.org

Today's episode is a very tender story about loss, and while it might tug at your heartstrings, it's also an incredibly inspiring story about finding joy and hope within grief. Only three short days after taking her very first child home, Heather Earl noticed a devastating rash on her little newborn, Shealyn. After rushing to the doctor, getting redirected to the children's ER, and having to wait two agonizing weeks for a diagnosis, her worst nightmare came true. Shealyn was diagnosed with a rare condition called Epidermolysis Bullosa, which causes fragile, blistering skin and can be fatal. Babies with this condition have skin “as fragile as butterfly wings,” and a simple dressing change can take hours. Only 5 short months later, Shealyn sadly passed away on Thanksgiving day. After Shealyn's passing, Heather gave birth to three more babies; her third child, Shelby, was tragically born with the same condition and passed at 6 months old. Through so much heartbreak and grief, Heather's story has turned into an inspiring tale of the power of faith, hope, and acts of service. I'm so delighted to have Heather on the show as she shares empowering advice on navigating grief, processing emotional triggers, and adapting to a “new normal.” By giving back through acts of kindness, community service, and starting Pajama Pages-a nonprofit for children in hospitals-Heather found an incredibly healthy channel for her grief which has become a source of joy for everyone whose life she has touched. I hope you'll get a lot of value out of this episode and discover the power of being present, choosing joy, finding abundance, and living in a state of empathy and understanding, even in times of hardship. Key Takeaways with Heather Earl The importance of having a support system, whether that is a spouse, parent, or friend. Leaning on faith to stay hopeful and strong in order to advocate for your children. How to adapt to the “new normal” of everyday life with a sick child. Processing emotional triggers and learning to navigate them. Parenting through times of grief and emotional distress. Healing through acts of kindness/service to others. Living with an empathy state of mind (choosing joy over anger) Show Notes: Get Full Access to the Show Notes by visiting: MatteasJoy.org/33. Rate & Review If you enjoyed today's episode of The Joy In The Journey, hit the subscribe button on Apple Podcasts, Spotify, Stitcher, or wherever you listen, so future episodes are automatically downloaded directly to your device. You can also help by providing an honest rating & review over on Apple Podcasts. Reviews go a long way in helping us build awareness so that we can impact even more people. THANK YOU!

ONCE UPON A GENE - EPISODE 141 A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa Laura Dellicker is a hardworking mom who adopted a little boy named Salim four years ago. Salim has a rare disease called Epidermolysis Bullosa (EB). Laura shares her story of rare disease adoption and what inspired her decision. EPISODE HIGHLIGHTS Can you tell us about Salim? My son Salim is 7 years old and he has two unrelated genetic conditions. I adopted Salim from India four years ago and I was aware of his primary diagnosis of Epidermolysis Bullosa, which means his skin doesn't adhere to his body.  What was your motivation to adopt Salim despite his rare disease? I knew I wanted to adopt a child with EB after being involved in the ED world for 10 years prior after my friend's son was born with EB. Moreso, I knew Salim was my son and he just happened to be born on the other side of the world and I just did what I had to do to bring him home.  Where have you found support and community? There is a wonderful adoptive community and I have a lot of friends who have adopted kids from India. We've managed to even stay in touch with some of Salim's friends from India. I do sometimes feel a little out of place because there's no one in the adoptive community with either of Salim's genetic conditions, and I've not found another parent who has adopted as a single parent in the rare disease community.  What wisdom do you have for others considering adopting a child with medical complexities? Kids can look terrifying on paper, but they're so worth it. They mostly need love and family. It's worth it in the joy they have in experiencing the world. This isn't an easy road, but it's worth it and will force you to re-evaluate things and not take things for granted. LINKS & RESOURCES MENTIONED Effisode 050 - Global Genes RARE Disease Patient Advocacy Summit https://effieparks.com/podcast/effisode-050-global-genes-rare-disease-patient-advocacy-summit Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ @teamsupersalim on Instagram https://www.instagram.com/teamsupersalim/ 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/ Once Upon a Gene TV https://www.thedisordercollection.com/