Disease affecting a small percentage of the population
On this month's episode rare diseases are discussed. Including the difficulties in diagnosing these rare disease and the importance of research in developing effective treatments. On this episode, Dr. Bradley Schlaggar, president and CEO of Kennedy Krieger Institute welcomes: Dr. Ali Fatemi - Chief Medical Officer at Kennedy Krieger Institute and Director of the Moser Center for Leukodystrophies and an investigator at the Hugo W. Moser Research Institute at Kennedy Krieger. Dr. Fatemi is also professor of neurology and pediatrics at Johns Hopkins School of Medicine. Dr. Erika Augustine - Associate Chief Science Officer and the Director of the Clinical Trials Unit at Kennedy Krieger Institute, as well as the Director of the Batten Disease Clinic at Kennedy Krieger. Dr. Augustine is also an associate professor of Neurology at Johns Hopkins School of Medicine. Links to visit: https://rarediseases.org/ https://www.kennedykrieger.org/stories/news-and-updates/research-news-releases/kennedy-krieger-named-center-excellence-its-treatment-rare-pediatric-diseases See omnystudio.com/listener for privacy information.
In Episode 40 of Derms and Conditions, our host James Q. Del Rosso, DO sits down with Whitney A. High, MD, JD, a Professor of Dermatology and Pathology at the University of Colorado. The two discuss blastic plasmacytoid dendritic cell neoplasm (BPDCN), a highly aggressive and fatal malignancy that can be very challenging to diagnose. Dermatologists are in a great position to make the initial diagnosis of this rare disease as it involves the skin in 80-90% of cases. Dr. High discusses several clinical pearls about BPDCN including how it presents, important considerations for the dermatopathologist, and the best techniques to biopsy the lesion in order to maximize diagnostic yield. Finally, he reviews the next steps in disease management once the diagnosis is made. Dermatologists can have a significant impact on patient outcomes with BPDCN by making the diagnosis early, so tune in to this episode to learn more!
“You know, it's easy to say that default answer that everything's okay, but it's really not. She's lost a lot of her vision, she's got hundreds of seizures at night, and she's having difficulty walking,” shares Luke Rosen about his eight-year-old daughter Susannah. She was born with KIF1A-associated neurological disorder -- or KAND -- a rare, degenerative genetic disease for which there is currently no cure or treatment. On this episode of Raise the Line, Luke talks about how he and his wife Sally summoned the strength to move beyond their family's own challenges to create KIF1A.org which is working to rapidly discover a treatment for all patients and families affected by this devastating disorder, but to also create a supportive community. “Five years later, we have approximately four hundred families around the world that we've identified and there's not one family I know that doesn't play a significant role in what we do.” Thanks to that global community and partnerships with the Chan Zuckerberg Initiative, Columbia University, the n-Lorem Foundation, the Jackson Laboratory and many other organizations, there's reason to be hopeful, as Luke shares with host Shiv Gaglani. “Susannah has been fortunate enough to just have started an experimental treatment. We really are on the brink of several things for, hopefully, the entire community.” Tune in for a candid and moving look at how families and supportive scientists and healthcare providers are mobilizing to fight back against a rare and pernicious threat to their children.Mentioned in this episode: https://www.kif1a.org/
As we continue our focus on rare diseases on Raise the Line, we're delighted to be joined by Dr. Alaa Hamed, Global Head of Medical Affairs, Rare Diseases at Sanofi, one of the leading pharmaceutical companies in the world. Although most well known for their focus on lysosomal storage disorders including Gaucher and Pompe disease, Dr. Hamed and his team at Sanofi are also working in adjacent disease spaces depending on the systems affected. “For example, the lysosome in Pompe disease affects the neuromuscular tissues, so we have a neuromuscular disorder interest as well.” In their discussion, Dr. Hamed and host Shiv Gaglani also touch on the efforts Sanofi is making to shorten the diagnostic odyssey for rare disease patients, including building more disease awareness and greater global infrastructure. “From the inception, we thought that having universal access is a key part of the rare disease equation.” You'll also learn about the challenges of drug development, the importance of maintaining policy incentives to focus on rare diseases, and where innovation is needed most to advance outcomes for patients. Mentioned in this episode: https://www.sanofi.com/
In this episode: At 18 months of age, Olivia was diagnosed with Hurler Syndrome (MPS IH). She has always been an overcoming and has overcome every obstacle in her path, and now at 18 years old, she has the opportunity to go to college. Today we talk about Olivia's first semester at college and her being a trailblazer. And her parents' experience being advocates for not only her life but her career. We talk about Olivia's high school experience and the joyful experience of getting into Mississippi State University. After falling in love with interior design after an elective in high school, she decided to go to Mississippi State University because their motto is "Family," and they take care of their students. Facing physical challenges in the classroom and after meeting with the disability resource center, Olivia started to fall behind because of a lack of accommodations. "I've been fighting for her life for 18 years, I never thought I would have to fight for her career." Jamie. After a frustrating meeting where Olivia was treated unfairly by college officials, Olivia left the meeting and called her parents and could not articulate what was happening. Her dad got in the car and started driving to the University. A parent's worst nightmare. Let Olivia know that she is not alone in this fight, use the hashtag #WriteForOlivia to encourage her.The National MPS Society exists to cure, support, and advocate for MPS and ML.If you like Our Voices, visit our website and follow us on social media on Facebook, Instagram, Twitter, and LinkedIn. And if you like the podcast, we'd appreciate you telling a friend (maybe even two).
“Imaging has really become the tip of the spear of the patient journey,” says Daniel Arnold, CEO of Medality. In order to train future radiologists in this critically important and complex specialty, and keep current practitioners on top of their game, Arnold and his team are on a mission to transform the way radiologists learn by offering an online solution that mimics practicing radiology in the field. “Our goal is to make it easy for radiologists to learn a new subspecialty in just five minutes per day.” In his conversation with host Shiv Gaglani, Arnold touches on how Medality (formerly MRI Online) is connecting radiology practices with people who have the skills they need most. The two also discuss the importance of getting imaging diagnoses correct the first time, why radiologists can't just rely on what they learned in residency and fellowship, and the impact of artificial intelligence and other technological advances in the field. “Being a part of the puzzle around how we disseminate new lifesaving technologies is what really motivates us and gets us excited.”Mentioned in this episode: https://mrionline.com/
When I started it was just a feeling and an idea. I switched to posting chronic illness content in November and through November and December thought about what I wanted to build. I thought about Rare Diseases, but honestly it overwhelmed me even though I have a rare disease. Of course rare diseases are welcome here, they are chronic illnesses after all. Just something about it was too much. Then when I decided what it would kind of look like to get started, I fully launched everything in February - Rare Disease Awareness Month. So if you've been enjoying my content and feeling connected to it I appreciate it! Now I have a more clear picture of what I want to build here. I have asked you questions and have formed what we're going to be doing together based on what you told me. So - what are we going to be all about here? What can you expect as you participate in this community… Listen to this episode to find out! Join us on Instagram! https://www.instagram.com/teamvasculitis/ Join the email list and never miss and update or an announcement!https://teamvasculitis.com/team-vasculitis-email
There's a common debate going on in many of our heads when it comes to committments. Whether it's meeting a friend for coffee, or going to a concert with a group, we have to decide if we can make it. If we decide not to go or even worse, cancel at the last minute, is it for a legit reason or are we just making an excuse? Ultimately that's for you to decide for yourself... Resources mentioned in this episode: Intro post for Sean's column: No Good Excuse 2DD episode 178 - Man Turning Into Stone - Joe Sooch This episode is brought to you in part by Catalyst Pharmaceuticals and LEMSAware.com/podcasts. The LEMS Aware Podcast is not only dedicated to those affected by Lambert-Eaton myasthenic syndrome, a rare neuromuscular disorder but to those impacted by adult (late) onset rare disease. Whether you're a patient or caregiver, rare disease can be isolating. Join us as we hear about the challenges of living with rare disease, share the stories and raise awareness of LEMS to the world. Listen wherever you get your podcasts! https://www.lemsaware.com/podcasts
It’s a paradox that rare diseases are not so rare; one in ten people has a rare disease. Yet each rare disease, and each person’s experience with a rare disease, is different. This makes for complex communication with family and health professionals. Hear how Dr. Paul Ranelli uses the arts to delve into the complexities […] The post Dr. Paul Ranelli and using the arts to explore rare diseases appeared first on Health Communication Partners.
ONCE UPON A GENE - EPISODE 162 Your Career and Personal Life Collide - Senior Vice President, Head of Development and Safety of Alexion, AstraZeneca and Smith Magenis Rare Disease Dad Gianluca Pirozzi Gianluca Pirozzi is a dadvocate and Senior Vice President, Head of Development and Safety at Alexion, AstraZeneca. His daughter has Smith Magenis syndrome. EPISODE HIGHLIGHTS What is your connection to rare disease and how does it connect with your work? My childhood best friend was diagnosed with a rare disease called Fanconi Anemia and he died at the age of 19. I saw the world through his eyes and I learned so much about life because of him. He is also the reason I studied medicine. Years later, my daughter was diagnosed with a rare disease called Smith Magenis. At the time I was in drug development and I changed my career to focus more on rare diseases. What role do caregivers play in the rare disease patient journey and is their advocacy essential? The caregiver plays a major role- they're the depository of knowledge and understanding of the disease. The caregiver best understands the impact of the disease on a patient's day-to-day life. Advocating through fundraising, organizing family conferences and participating in registries is important. How has your perspective of pharma changed since becoming a rare dad? Being in the pharma business, I know how expensive it is to run clinical studies and clinical research. As a caregiver, I defend access for as many patients as possible, but I also know that without a return of investment, there would be no research that leads to advancement or development of rare disease medicine. What aspects of being a rare dad are you grateful for? I'm grateful for being reminded everyday of what is truly important in life. When I see the struggles my daughter has with simple things, she also has gratitude and happiness when she succeeds with simple things. What does it take to prepare for a family trip? We have to think steps in advance, thinking about what time we will travel so we are planning around my daughter's best time of day. We talk to the doctor about medicine to help her relax and sleep. We bring her special bed and medical stroller and call the airline ahead of time to accommodate. It's a complicated process and we plan for challenges the best we can, bearing in mind that we will also have beautiful memories and everyone will have a good time. 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 email@example.com for more information!
In October, Alnylam said it would halt development of a therapy for a rare eye disorder to evaluate the impact of the Inflation Reduction Act. The decision is a reflection of the unintended consequences that policies can have on rare disease drug development. We spoke to Amanda Malakoff, executive director of the Rare Disease Company Coalition, about the policy landscape for rare disease therapies, unfinished business from the recent passage of a lean Prescription Drug User Fee Act, and policy priorities for 2023.
“One of the reasons I really wanted to be at Walmart is that you're touching people that truly have a need,” says Dr. John Wigneswaran, the retail giant's Chief Medical Officer. And giant is not an overstatement. 150 million Americans visit a Walmart every week, and there is a store within ten miles of 90% of the U.S. population. In terms of healthcare, there are roughly 5,000 Walmart pharmacies, 4,000 of which are in medically underserved areas. Walmart visitors also have access to primary and urgent care, labs, x-ray and diagnostics, behavioral health, dental, optometry and hearing services. So, clearly, the company is in a unique position to make a big impact in the healthcare space whatever they choose to do. One of their most recent choices is to boost the participation of rural and underserved communities in clinical research, which Dr. Wigneswaran sees as an extension of their existing mission. “Ultimately, what we're trying to do to is drive safer, high quality and equitable care, and research is just one of the levers,” he tells host Shiv Gaglani. Tune in to learn about the evolution of a growing player in America's healthcare system which could include initiatives in diabetes, nutrition education, wound care and HIV.Mentioned in this episode: Walmart Health and Wellness
Making the transition to independence is difficult to begin with. It is further complicated if you have a rare disease. Lauren Riggs joins The Dudes to talk about her recent experience moving away from home to go to school at University of Oklahoma and then grad school in Texas. Lauren lives with Friedreich's ataxia (FA). Her own journey with accessibility leads her to facilitate accessibility for others. During this episode, Lauren explains the Spoon Theory which many people living with rare or chronic disease can relate to. This episode is brought to you in part by Catalyst Pharmaceuticals and LEMSAware.com/podcasts. The LEMS Aware Podcast is not only dedicated to those affected by Lambert-Eaton myasthenic syndrome, a rare neuromuscular disorder but to those impacted by adult (late) onset rare disease. Whether you're a patient or caregiver, rare disease can be isolating. Join us as we hear about the challenges of living with rare disease, share the stories and raise awareness of LEMS to the world. Listen wherever you get your podcasts! https://www.lemsaware.com/podcasts
“We're the richest country on the planet, healthcare access has to be core to who we are,” says Karthik Ganesh, CEO of EmpiRx Health, one of the fastest growing healthcare services companies in the country and the industry's only value-based Pharmacy Benefit Manager. Ganesh and his team believe that radical changes are needed in the country's healthcare system and they're working to create a better experience for patients, providers, businesses, and insurance companies alike. Ganesh has deep experience in the healthcare insurance industry and health data management with stops in his career at Aetna, Express Scripts and Deloitte, and he's also the author of The Happiness Model: A Roadmap to Inner Peace. In his conversation with host Michael Carrese, Ganesh talks about why employers need to learn more about value-based care, and how healthcare needs to become a less transactional relationship with the provider. He also touches on some of the key factors that make EmpiRx different from traditional PBMs. “We are as equally focused on health outcomes as we are financial outcomes.” Mentioned in this episode: https://www.empirxhealth.com/
All Home Care Matters was honored to welcome a remarkable and distinguished guest to the show, Dr. Jason Karlawish. Dr. Karlawish is a physician, writer, and author. He researches and writes about issues at the intersections of bioethics, aging, and the neurosciences. He is the author of The Problem of Alzheimer's: How Science, Culture, and Politics Turned a Rare Disease into a Crisis and What We Can Do About It and the novel Open Wound: The Tragic Obsession of Dr. William Beaumont. Dr. Karlawish has also written essays for the Los Angeles Times, The New York Times, The Washington Post, Forbes, The Hill, Nature, STAT, and the Philadelphia Inquirer. Currently he is a Professor of Medicine, Medical Ethics and Health Policy, and Neurology at the University of Pennsylvania and Co-Director of the Penn Memory Center, where he cares for patients. He is a member of the Board of Directors of The Greenwall Foundation. He lives in Philadelphia.
Spastic Paraplegia 50 (SPG50) is a neurodegenerative and neurodevelopmental disorder that is known to affect only 80 people around the world, including just one person in Canada. Unfortunately for Terry Pirovolakis, it happens to be his son, Michael. As a result, he's teamed up with gene therapy experts, CROs, and nonprofits to research, manufacture, and deliver a therapy to help his son and others suffering from this ultra-rare disease, but the clock is ticking. Join us as Terry discusses his grassroots efforts to raise money and found the Cure SPG50 Foundation, how SPG50 affects the body, the future of research and development for this disease, and what you can do to help Terry's efforts. Show Notes: Sounds of Science E33: A Father's Fight Eureka Blog: The Hunt for a Solution to SPG50 Cure SPG50 - We Did It Rare Disease Cell and Gene Therapy Products & Services Neuroscience Studies Family of baby boy with ultra-rare disease aims to raise $3M for gene therapy Toronto boy with rare genetic disorder begins treatment after family raises US$3 million Single-patient gene therapy clinical trial at SickKids carves a path for Precision Child Health Elpida Therapeutics
Tonya and Jason Goodin's lives are divided distinctly into before and after and the divider is something unimaginable. Multiple Sulfatase Deficiency (MSD) is an ultra-rare disease that attacks children and leads to premature and horrific death. The chances of it striking your children are about one in a million and a half. Despite these odds, not one, but both of the Goodins' children were diagnosed with this beast of disease in 2019 at the tender ages of 8 and 6. Since then, the Goodins have been making history - fighting for their children's lives and every other child who comes after them.Join me for this special episode, as Tonya shares their amazing story and how she finds hope amid her heartache. Special Guest: Tonya Goodin, co-founder of Grant Us Grace, a non-profit designed to bring awareness to rare diseases and to raise funding for the necessary research. To follow Tonya on social media at: https://www.facebook.com/GrantUsGrace2cureMSDTo learn more about their story, watch this video: https://drive.google.com/file/d/1RNzmeMr5VZR2dP6NA3qDnjj0WeIk0x69/view Episode edited by Jordan M Overkamp, Founder, PlayRoom Studio
When Katie Lloyd's son was diagnosed with a rare, lifethreatning disease, she began to notice that people around her reacting to the news in some unintentionallyinsensitive ways. When we witness someone going through a difficult situation, our first impulse is to say something encouraging: "Chin up!" "The Sun will come out tomorrow". However, responses such as this can be counterproductive because they lack empathy and understanding. Instead, perhaps we should simply acknowledge the difficulty and "hold space for each other." The Dudes agree that this is a topic that we can all learn from. Katie's blog: https://averyrareadventure.com/ This episode is brought to you in part by Catalyst Pharmaceuticals and LEMSAware.com/podcasts. The LEMS Aware Podcast is not only dedicated to those affected by Lambert-Eaton myasthenic syndrome, a rare neuromuscular disorder but to those impacted by adult (late) onset rare disease. Whether you're a patient or caregiver, rare disease can be isolating. Join us as we hear about the challenges of living with rare disease, share the stories and raise awareness of LEMS to the world. Listen wherever you get your podcasts! https://www.lemsaware.com/podcasts
In episode 121 of the Pharm Exec Podcast, Nathalie Dompé, co-CEO of Dompé Pharmaceuticals, shares a glimpse into her journey in the pharma industry, her leadership style, the differences in working in leadership in the United States vs. Europe (Italy, specifically), and technologies in the biopharma industry. Meg Rivers, editor-in-chief, and Miranda Schmalfuhs, group social media editor, also talk to Dompé about: 1) launching a rare disease drug in the United States, the commercial/sales/marketing challenges, and what the company learned in the process; 2) how launching a rare disease drug differs from other drugs as it relates to the commercialization phase; 3) how can the industry can best meet the needs of patients and health systems; 4) balancing family/home life and work.
Would you rather be poked with a needle, or get a diagnosis from a non-invasive scan? Most of us would choose the latter, if we had the option. Needle biopsies also come with the risk of infection and other complications that can be avoided by obtaining a diagnosis via imaging. Those are just some of the advantages underpinning the work of Perspectum, a global precision health company focused on improving the diagnosis, treatment, and management of metabolic diseases and cancer. As founder and CEO Dr. Rajarshi Banerjee explains to host Michael Carrese, “I can work out with incredible clarity what kind of prostate cancer someone has, and what treatment they're likely to respond to, just from a scan.” Other applications include diagnosing and monitoring liver disease, and more recently, doing multi-organ scans to aid in evaluating long COVID. Banerjee also sees a role for Perspectum's computer-assisted imaging technology in combatting the rising tide of chronic disease in the U.S. “Unless we do something about them, there is going to be a fourfold rise in breast, colon and liver cancer in the next two decades.” Check out this enlightening look at new tools to help providers customize treatments and provide better care for patients. Mentioned in this episode: Would you rather be poked with a needle, or get a diagnosis from a non-invasive scan? Most of us would choose the latter, if we had the option. Needle biopsies also come with the risk of infection and other complications that can be avoided by obtaining a diagnosis via imaging. Those are just some of the advantages underpinning the work of Perspectum, a global precision health company focused on improving the diagnosis, treatment, and management of metabolic diseases and cancer. As founder and CEO Dr. Rajarshi Banerjee explains to host Michael Carrese, “I can work out with incredible clarity what kind of prostate cancer someone has, and what treatment they're likely to respond to, just from a scan.” Other applications include diagnosing and monitoring liver disease, and more recently, doing multi-organ scans to aid in evaluating long COVID. Banerjee also sees a role for Perspectum's computer-assisted imaging technology in combatting the rising tide of chronic disease in the U.S. “Unless we do something about them, there is going to be a fourfold rise in breast, colon and liver cancer in the next two decades.” Check out this enlightening look at new tools to help providers customize treatments and provide better care for patients. Mentioned in this episode: https://www.perspectum.com
“We know that whenever nurses are listened to in policymaking arenas, health outcomes improve,” says Dr. Michelle Acorn, chief nurse at the International Council of Nurses, a federation of nursing associations. That's why she's focused on making sure nurses are at the decision-making tables all over the world. “ICN ensures that nurses have a voice in developing and implementing health policy so that we can meet the real needs of patients, families and communities.” Acorn makes a point of getting into the decision-making arena herself, including at the recent United Nations General Assembly meeting in New York where she raised awareness of health disparities. “Our health systems need resources to provide patient- centered and culturally-appropriate care to the diverse populations we serve,” she tells host Michael Carrese. Tune in for a wide-ranging exploration of current global trends and challenges in nursing, lessons from COVID-19, and major leadership opportunities in the nursing profession. Mentioned in this episode: https://www.icn.ch/
Archana Sah is a clinical development thought leader with extensive (30 years) experience and passion for developing medicines for patients having led and contributed to 15 FDA/EMEA drug approvals in Oncology, Immuno-Oncology, Precision Therapeutics, Rare Diseases, Metabolic Diseases and Women's Health. She has held various global positions within biotech and pharma including Genentech/Roche, Bayer Oncology, Johnson & Johnson, ICON, two Oncology biotech start ups and a Digital tech company Medable where she led Oncology TA Solutions. She is now the Founder and CEO of AS Pharma Advisors and provides strategic advisory services to several organizations in clinical development and operations and innovations in digital health technology. She is a recognized leader/change agent passionate about bringing innovation and efficiencies within the entire clinical trial ecosystem as an advisor and speaker. She has been the co-founding chair (2019-2021) and now a member of Society for Clinical Research Sites Oncology Board and chaired the Annual Oncology Summits. She serves on the Leadership Council for Decentralized Trials and Research Alliance and has been a member of the Digital Innovation in Oncology Roundtable with DiMe. She also serves as an Advisor to American Cancer Society Cancer Action Network. She has contributed to the clinical trial sites Standardization and Harmonization with the Forum on Drug Discovery and Development, National Academy of Sciences. This week we discuss the unique challenges of implanting DCT in oncology, the ever-present need for better interoperability, and what the next 5 years of DCT might look like.
Science As a Force for Social Good: Dr. Richard Horton, Editor in Chief of The Lancet The first scientific paper on the clinical features of patients infected with what came to be known as COVID-19 was published in The Lancet, launching that famed journal's prominent role in COVID research, which it has maintained throughout the pandemic. But being an influential force in science and medicine is nothing new to this nearly 200-year-old publication, which is published by Osmosis' parent company, Elsevier. We explore that role on this episode of Raise the Line with The Lancet's Editor in Chief, Dr. Richard Horton. A physician by training, Dr. Horton himself has often been described as a global force in science and medicine, partially for his work in greatly expanding the content offerings and global reach of The Lancet's family of publications, but also for his outspokenness on politically charged issues. “I don't apologize for not being impartial. I would say it's the only way you can be. You have to look at the world, diagnose the world view you have, and then we use our journal to try and achieve certain objectives. It's what science was all about originally,” he tells host Shiv Gaglani. Insights abound in this penetrating and lively look at the intersection of science and society, what lessons we should learn from COVID and the prospects for humans solving the existential threats we've created. “Our role at The Lancet is to draw attention to the dangers that face the human species, but also, to the solutions that are available to us.”Mentioned in this episode: https://www.thelancet.com