Ion Channel Mutations: The Complexities of Treatment

Patient Empowerment Program: A Rare Disease Podcast

Endpoints News (endpts.com) A teenager faced constant seizures. Could a drug developed just for him stop them?

22:08

Host Francesca Amiker sits down with directors Joe and Anthony Russo, producer Angela Russo-Otstot, stars Millie Bobby Brown and Chris Pratt, and more to uncover how family was the key to building the emotional core of The Electric State . From the Russos’ own experiences growing up in a large Italian family to the film’s central relationship between Michelle and her robot brother Kid Cosmo, family relationships both on and off of the set were the key to bringing The Electric State to life. Listen to more from Netflix Podcasts . State Secrets: Inside the Making of The Electric State is produced by Netflix and Treefort Media.…

рік тому 30:16

MP3•Головна епізоду

Mutations affecting ion channels are the most common cause of 'applications for treatment' submitted to n-Lorem. These channels regulate the passage of essential electrically charged ions, like sodium, potassium, calcium, and chloride, into cells. Alas, ion channels pose a significant challenge in the ASO discovery process, as there is little room for error due to the need for highly allele-selective ASOs to achieve success. Let’s 'dive into the channel' and explore the complexities of treating patients with ion channel mutations.

Recently a report on one of our patients with an ion channel mutation was published in Endpoints News highlighting the power of our technology for these disorders. Check it out by clicking the link below.

Podcast Awards - The People's Choice

Survey – Patient Empowerment Program Podcast

On This Episode We Discuss:

Defining Ion Channels and Ions
Health, Homeostasis, and Biological Buffering
Multiple forms of the same gene
Multiple Isoforms of Gene Product from the same gene
Network redundancy
Ion Channels are different

72 епізодів

#Science #Fitness #Biology #Podcasting Education #Medicine #Amy Williford #Andrew Serrano #Jon Magnuson #Patient Empowerment

Ion Channel Mutations: The Complexities of Treatment

Patient Empowerment Program: A Rare Disease Podcast

published рік тому

Поширити

MP3•Головна епізоду

Endpoints News (endpts.com) A teenager faced constant seizures. Could a drug developed just for him stop them?

Podcast Awards - The People's Choice

Survey – Patient Empowerment Program Podcast

On This Episode We Discuss:

Defining Ion Channels and Ions
Health, Homeostasis, and Biological Buffering
Multiple forms of the same gene
Multiple Isoforms of Gene Product from the same gene
Network redundancy
Ion Channels are different

72 епізодів

#Science #Fitness #Biology #Podcasting Education #Medicine #Amy Williford #Andrew Serrano #Jon Magnuson #Patient Empowerment

Усі епізоди

1
Our Mission is Personal with Sarah Glass 41:36

8 днів тому41:36

41:36

For n-Lorem's Chief Operating Officer, Sarah Glass, the mission of n-Lorem is deeply personal. Her son Ethan was diagnosed with a nano-rare mutation, a journey that has shaped her commitment to the cause. A geneticist by training, Sarah joined n-Lorem to help lead and guide the organization in its efforts to offer hope and potential help through treatment opportunities to nano-rare patients and their families. This is more than just a job for her—she is driven by her love for her son and a passion to serve the entire nano-rare community. This episode is proudly sponsored by Hongene Biotech. “We are changing the landscape of rare disease drug discovery and development – starting with the most rare.” – Sarah Glass, Ph.D. On This Episode We Discuss: ✔️ Sarah’s background in science and her early interests ✔️ How working at a Contract Research Organization (CRO) shaped her understanding of the patient experience ✔️ The challenges of rare disease clinical trials and why they are still relatively new ✔️ Sarah’s son, Ethan, and his journey as a nano-rare patient ✔️ How long it took for Ethan to receive a diagnosis and the symptoms he faces ✔️ How Sarah discovered n-Lorem, a nonprofit providing free, lifetime treatment for nano-rare patients ✔️ The emotional journey of caring for a nano-rare child—how parents navigate hope and uncertainty ✔️ What Sarah has learned while working at n-Lorem ✔️ The biggest surprises in her journey as both a mother and a scientist If you’re passionate about rare diseases, personalized medicine, and patient advocacy, this episode is a must-watch! 💙 🔔 Subscribe for more stories from the rare disease community! #RareDisease #NanoRare #nLorem #PatientAdvocacy #geneticdisorders Donate to n-Lorem: www.nlorem.org/donate More about Hongene: www.hongene.com…

1
How Cells Phone a Friend: Local Communication 21:11

22 дні тому21:11

21:11

Our bodies are like bustling cities of cells, always chatting and working together. They don’t just send long-distance messages to organs—they also gossip locally, getting nearby cells to spring into action. Juxtacrine communication is like a handshake between cells—they have to be up close and personal to pass the message along! Unlike long-distance cellular calls, juxtacrine signaling requires direct contact, where one cell’s surface proteins interact with another’s, triggering a response. This episode is brought to you by Hongene Biotech who is continuously innovating to make RNA medicines accessible and affordable to patients worldwide. Visit www.hongene.com On this episode we discuss: Paracrine communication Recently found exosomes Cell to cell contact-dependent communication (Juxtacrine signaling) Tunneling microtubes Cell communication conclusions…

1
How Cells Phone a Friend: Long Distance Communication 36:12

5 weeks тому36:12

36:12

How do cells communicate with each other? With trillions of cells in the human body, seamless collaboration is essential within this intricate cellular society. Cells work together to form organs, and when one organ needs another to perform a task, they send signals across distances—much like picking up the phone and calling someone. Organ Hotline 📞 Eyes: Hey, Brain? This is Eyes. We’re reading this post about how organs communicate, and it’s really interesting. 📞 Brain: Oh, show me more! What’s it say? 📞 Eyes: Apparently, organs send signals to each other to get stuff done. Like, the liver calls the stomach when it’s time to detox! 📞 Brain: Whoa, I had no idea they were so organized! Keep reading, I need all the details! 📞 Eyes: I’m on it! But it says they made a whole podcast episode on in. 📞 Brain: Alright, I’m sold! I'm signaling to press play. On This Episode We Discuss: How cells talk to each other Multicellular organisms Why cells create organs Organ to organ communication - Electrochemical Chemical signals - The endocrine system Hormones created by other organs This episode is brought to you by Hongene Biotech: https://www.hongene.com/ Support n-Lorem and nano-rare patient: https://www.nlorem.org/donate/…

1
Rosie’s Story: A Nano-rare Treatment Pioneer 49:30

7 weeks тому49:30

49:30

Rosie was the first of three HNRNPH2 patients to receive treatment with an n-Lorem ASO, helping to pave the way for others. Her parents, Nicole and Bobby, share their daughter's journey and how they have adapted as a family to meet her unique needs. As a pediatrician, Nicole understands the complexities of medical care, yet she acknowledges that even she doesn’t always have the answers when it comes to raising a child with a nano-rare disease—a reality that resonates with many nano-rare families. On this episode we discuss: 2:00 Bobby left his job to help care for Rosie full-time 7:36 Nicole is a pediatrician and it’s difficult for her to not regularly attend Rosie’s appointments 11:16 Rosie’s diagnosis of HNRNPH2 16:00 Even as a pediatrician, Nicole finds nano-rare diseases complex and difficult to navigate 19:29 What is HNRNPH2? 26:40 Coming to terms with the diagnosis 29:35 Weighing the potential risk/benefit and making the decision that Rosie will be the first HNRNPH2 patient treated with an experimental medicine 37:05 How Rosie is doing after three ASO treatment doses 40:35 Potential for a placebo effect and allowing multiple observers to notice changes Donate to n-Lorem: https://www.nlorem.org/donate/ This episode is brought to you by Hongene Biotech: https://www.hongene.com/…

1
Sloane's Story: A Shared Medicine 53:31

9 weeks тому53:31

53:31

Sloane was born with a KIF1A mutation and is a special case at n-Lorem—she was the first patient to receive a medicine originally designed for someone else. Her mother, Megan, and grandfather, Tom, join the Patient Empowerment Program to share her journey and provide an update on how she’s doing six months after treatment. On This Episode We Discuss: Sloane’s KIF1A diagnosis Nano-rare diseases affect the entire family Sloane was able to use the same ASO as another KIF1A patient Finding n-Lorem through KIF1A.ORG Shocked that n-Lorem was able to create personalized treatments efficiently at cost Sloane’s case is unique in a variety of ways and the decision to treat How Sloane has responded to treatment Are better measurements of benefit needed for nano-rare patients? How Sloane has brought empathy, joy, and positivity to her family Tom unretired to help fund research and support The origins of ASO medicine is a long haul Thank you to Hongene Biotech for sponsoring this patient story episode! Make Hope Possible for nano-rare patients with a donation to n-Lorem.…

1
5-years of n-Lorem: What Have We Learned? 45:30

11 weeks тому45:30

45:30

Five years of creating medicines, instilling hope, and overcoming steep challenges—all with the singular goal of improving the lives of nano-rare disease patients. Along the way, we’ve proven that WE CAN treat these patients safely and effectively, delivering significant benefit. But what else have we discovered throughout this journey? Thank you to Hongene Biotech Corporation for sponsoring this 5-Year Anniversary episode. On This Episode We Discuss: - We CAN do this - n-Lorem is proof of the value of investing in science - We can treat nano-rare patients safely - The nano-rare patient population is large - We must introduce genomic sequencing into newborn evaluation - Most nano-rare diseases are more prevalent than we think - Most diseases are a composite of multiple mutations in one or more genes - A non-profit model in which patients are treated irrespective of their financial status is feasible - Nano-rare mutations are spread throughout the genome - Nano-rare mutations can affect any organ - Essentially all types of mutations can cause nano-rare diseases - Most nano-rare patients express severe, chronic, debilitating, progressive diseases - The journey to diagnosis is often unique, long, and perilous - Significant benefit can be achieved - ASOs administrated intrathecally for CNS diseases can result in profound benefit - ASOs can result in durable benefit - Many patients require allele-selective ASOs - The community is strong - Industrialized processes created by n-Lorem is delivering great value - The modified cross-over clinical design created by n-Lorem is delivering high quality data - If we raise the funds, we can meet the demand Donate: www.nlorem.org/donate…

1
I Sing the Body Electric 33:27

13 weeks тому33:27

33:27

Walt Whitman’s 1855 poem, I Sing the Body Electric, is a celebration of the human body and its intrinsic connection to the universe. During that era, scientists were just beginning to understand that humans are, indeed, electrical beings. Whitman’s deliberate use of the word "electric" in his tribute to the human body was quite remarkable, as the term was not widely used at the time and electricity for human use was still in the experimental stage. With that in mind, the poem’s title serves as both a poetic and scientific statement. Many have compared great science to art, but we believe it is more akin to poetry. A poet distills intricate concepts, stories, and emotions into the most concise, impactful expression—cutting through the noise to reach the heart and soul of the matter. Similarly, great scientists achieve this with their work. Together, scientists and patients contribute their own verses to the epic poem of understanding known as science. This episode of the Patient Empowerment Program podcast is proudly sponsored by Hongene Biotech. With more than 26 years of experience in the nucleic acid industry, Hongene is a specialized CDMO and raw materials supplier committed to providing high-quality and high value products and services with the best in class lead times. Make Hope Possible and donate, today www.nlorem.org/donate Episode sponsor: Hongene Biotech https://www.hongene.com/…

1
Q&A - 2024 Nano-rare Patient Colloquium Recap 24:22

16 weeks тому24:22

24:22

Join Stan Crooke, n-Lorem founder, CEO, and host of the Patient Empowerment Program Podcast , alongside Amy Williford, Sr. Director of Communications and Donor Relations, for a special episode. In this post-colloquium Q&A, Stan recaps the 2024 Nano-rare Patient Colloquium and the progress n-Lorem has made as the organization nears its 5-year anniversary, shares his candid reflections on the event, and dives into additional thoughts and questions that weren’t covered. Do you have additional questions? Email podcast@nlorem.org . Question Bank: 2:15 How do you think the event went this year? 6:05 Were observations of benefit expected in patients so quickly? 9:47 What do you expect the number of patients treated to be next year? 10:57 Do you have a message to supporters? 12:30 Were there any disappointments from the colloquium? 13:21 What are the most important things that n-Lorem has learned this year? 16:13 Do you think n-Lorem’s processes will be outlined every year at the event? 18:05 How is AI incorporated at n-Lorem? 19:10 Does your recently announced deal with GondolaBio reflect the sustainability strategy discussed at the event? 20:53 n-Lorem is celebrating 5 years in 2025. Did you expect the foundation to be where it is today? 21:28 Does n-Lorem plan to expand into Europe and elsewhere? Make hope possible with a donation .…

1
Best of the 2024 Nano-rare Patient Colloquium 58:13

18 weeks тому58:13

58:13

This year’s Colloquium spanned two perfect autumn days in beautiful Cambridge, Massachusetts where hundreds of nano-rare community members from around the world gathered under a single roof to learn, connect, and support one another. We’re pleased to announce that the event welcomed over 750 attendees, both in-person and virtually. It’s each and every one of you who made the event such a success! For this special episode, we gathered the ‘Best’ clips from the event for you to learn from and enjoy. To submit questions for our upcoming Q&A episode, email podcast@nlorem.org. We can’t wait to hear from you! 2024 Colloquium Recap On this episode: 2:07 Daphne Graskewicz-Prado, ASO The Perilous Journey to Diagnosis and Treatment for Nano-rare 9:35 Ryan Strankowski and Dr, Nelson Leung, Ryan’s Journey and Clinical Experience 15:55 Luke Rosen, Megan Hedstrom, and Dr. Jennifer Bain, Susannah’s & Sloane’s Journeys and Unique Clinical Experiences 21:49 Kelley Dalby and Dr. Olivia Kim-McManus, Connor’s Journey and Clinical Experience 30:00 Dr. Julie Ziobro and Dr. Horacio Kaufmann, Building a Nano-rare Network and Managing Institutional Challenges 37:38 Dr. Andrew Lo and Dr. Alan Lotvin, Innovative Ways to Support Nano-rare 42:30 Dr. Toby Ferguson, Dr. Liz Berry-Kravis, and Dr. Eugene Shneider, Changing the World One Patient at a Time 47:30 Dr. Kate Dawson, What It Means to be a Parter with n-Lorem for Nano-rare 50:23 Dr. Stanley Crooke, Providing Hope for a Better Future, One Nano-rare Patient at a Time…

1
Susannah's Progress: Two Years of ASO Treatment with Dr. Jennifer Bain and Luke Rosen 40:38

25 weeks тому40:38

40:38

Two years of treatment—two years of strength, courage, and blazing a trail for other nano-rare patients! 🎉 Susannah's story was the first shared on the Patient Empowerment Program podcast. Now, two years later, her father, Luke Rosen, and her physician, Dr. Jennifer Bain, detail Susannah’s remarkable progress since beginning regular treatments—highlighting improvements in her motor skills, cognition, energy, and more! Susannah's Story (May 25, 2022) Donate 2024 Nano-rare Patient Colloquium On This Episode We Discuss: 3:10 Susannah's KIF1A mutation 5:50 Luke and his wife Sally changed their careers to help find a treatment for KIF1A 7:23 How Susannah's family first heard of n-Lorem 8:43 Jen on the Columbia University Medical Center team and the decision to treat Susannah 12:25 Luke's experience bringing his daughter to receive an experimental ASO treatment for the first time 14:30 The positive outcomes and observations of Susannah's treatment 26:15 What Dr. Bain has learned since treating Susannah 29:15 Luke on the impact and importance of the little things 31:15 Advice to other parents 35:40 Being part of a community of nano-rare patients and families…

1
Sneak Peek of the 2024 Nano-rare Patient Colloquium 41:44

27 weeks тому41:44

41:44

Take a glimpse behind the curtain as we offer you a sneak peek of the 2024 Nano-rare Patient Colloquium. We’re thrilled to welcome back longtime biotech journalist and current Features Editor of The Transmitter, Brady Huggett, to the podcast. In an interview with n-Lorem founder and CEO Stan Crooke, they preview the upcoming Colloquium, diving into key topics that will shape the conversation at the event and around nano-rare diseases in the year ahead. On This Episode We Discuss: 2:21 How many Investigational New Drugs (INDs) has n-Lorem filed? 5:22 How many patients treated with an n-Lorem ASO have been on therapy long enough to observe a benefit? 6:50 What does it mean for a patient like Susannah who has experienced a significant decrease in behavioral arrest incidents since receiving treatment 9:39 Providing ASOs to patients earlier 13:25 INDs for the ‘n-of-few' 23:15 Introducing Whole Genome Sequencing (WGS) for all newborns 29:05 Stan’s perspective on leadership 33:50 n-Lorem's goals for the 2024 Nano-rare Patient Colloquium Register for the 2024 Nano-rare Patient Colloquium Donate Biogen.com…

1
The Building Blocks of What's Possible with David Butler, Ph.D. 29:50

29 weeks тому29:50

29:50

Hongene Biotech is a producer of RNA building blocks – the first step for what’s possible in RNA drug-discovery and development. David Butler, Ph.D., Chief Technology Officer of Hongene, joins the Patient Empowerment Program to discuss why Hongene aims to help make RNA medicines accessible and affordable for patients everywhere, regardless of prevalence. On this episode we discuss: 2:40 Hongene Biotech and what do they do 8:09 The early days of nucleoside building blocks and maturation of Hongene 12:00 Hongene is a strong supporter of n-Lorem. Why? 15:30 David’s origins in the chemistry field 17:38 Incremental progress that has been made in science and manufacturing Links: 2024 Colloquium - https://www.nlorem.org/nano-rare-patient-colloquium-2024/ Make Hope Possible with a Donation - https://www.nlorem.org/donate/ Hongene - https://www.hongene.com/…

1
Knowledge is Power: Part 2 29:34

31 weeks тому29:34

29:34

The concluding episode of the Knowledge is Power series. The knowledge we are gaining at n-Lorem has even more value than benefiting nano-rare patients and their families. These insights will enable scientists to discover new therapeutic targets for both common and rare diseases, fundamentally changing the way we approach health and disease. Survey – Patient Empowerment Program Podcast Register for the 2024 Nano-rare Patient Colloquium On This Episode We Discuss: Questions we can answer and teach us about health and disease and opportunities to treat more common diseases What are all the functions of human genes? Are there gene products that have redundant functions? Do identical mutations cause identical phenotypes? n-Lorem can demonstrate that ASOs work on general types of disease challenges…

1
Knowledge is Power: Part 1 35:19

33 weeks тому35:19

35:19

The knowledge we are gaining at n-Lorem has even more value than benefiting nano-rare patients and their families. These insights will enable scientists to discover new therapeutic targets for both common and rare diseases, fundamentally changing the way we approach health and disease. Survey – Patient Empowerment Program Podcast Register for the 2024 Nano-rare Patient Colloquium On This Episode We Discuss: Two most common words in medicine: Health and Disease The Scientific Method The Importance of Single Variables Orthogonal Thinking We Are at a Unique Moment in Medical History Genomics Advances in Omics Biological Networks and AI Facile Collection, Maintenance, Growth and Differentiation in the Lab Antisense Technology…

1
Adopting a Rare Son with Paul Compton 33:39

35 weeks тому33:39