Patient Empowerment Program: A Rare Disease Podcast

Why We Dose Intrathecally

The affected organs of our patients determine the route of administration for an ASO, as certain routes can better target specific organs and offer the best potency. The central nervous system (CNS) is the most common target we encounter, and for this, we dose intrathecally. Let’s dive into how this is done and the particulars of why this approach is used. The Human Body and Barriers The Four Tubes – Enteral, Respiratory, Urinary, and the Central Nervous System (CNS) tube How The Body Constructs Barriers What is Cerebrospinal Fluid (CSF) The Blood-Brain Barrier (BBB) The Types of Molecules That Are Admitted to and Excluded From the CNS Intrathecal Administration of Drugs Outwitting the Blood-Brain Barrier Survey Link – Patient Empowerment Program Podcast: https://forms.office.com/r/1ik9WNs7QB Register for the 2024 Nano-rare Patient Colloquium: https://www.nlorem.org/nano-rare-patient-colloquium-2024/

Behind the ASO Design and Discovery with Konstantina Skourti-Stathaki, Ph.D.

Konstantina Skourti-Stathaki leads the n-Lorem research team behind the design and discovery of ASOs. Nadina, as we at n-Lorem call her, has a passion for helping patients and an excitement for science that is contagious. She joins the Patient Empowerment Program podcast to discuss her day-to-day activities as n-Lorem’s Director of ASO Design and Discovery, the ongoing research her team is conducting, and more!On This Episode We Discuss:Inspired to study biology at the University of CreteLeaving Greece to attend grad school at the University of OxfordAn internship led Nadina to the world of RNALeaving academia to impact livesLessons learned from experiencing drug discovery and developmentThe reason she joined n-LoremDay-to-day activities as Director of ASO Design and discoveryn-Lorem’s internal research management committee to make key decisions regarding programsOngoing research at n-Lorem to enhance allele selectivityStan Crooke on why he pioneered antisense technology

Best of the 2023 Nano-rare Patient Colloquium

We’re recapping the 2023 Nano-rare Patient Colloquium in this special “Best of” episode. For the Colloquium, we gathered the nano-rare community under one single roof for a full day of presentations and panels with experts, partners, supporters, and patients. So, we are bringing some of the top moments directly to your speakers. Discover the origins and aspirations of n-Lorem and Columbia University's Silence ALS initiative, visualize the journey of a nano-rare patient with the help of an emotional story told by a loved one, and imagine a future where commercial drug discovery organizations can focus on the world’s rarest diseases and more all in this one episode. To access the entire event, visit https://www.nlorem.org/nano-rare-patient-colloquium-2023/Register for the 2024 NRPC: https://www.nlorem.org/2024-nano-rare-patient-colloquium-registration-form/

The Hurdles of Insuring Patients with Nano-rare Mutations with Alan Lotvin, M.D.

What's preventing insurers from covering the specialized care of patients with nano-rare mutations, thereby expanding access to available treatment options? Is it the population size, cost, or perceived risk? Given that the initial discovery of nano-rare mutations is relatively recent, paving the way for this population requires a nuanced approach to overcome various obstacles. Alan Lotvin, M.D., CEO and co-founder of Sequel Med Tech, and former president of CVS Caremark, conceptualizes these hurdles.

Anna’s Story of Hope and Help: FUS-ALS with Sonja Kämpfer and Dr. Neil Shneider

Stan Crooke speaks with Sonja Kampfer and Dr. Neil Shneider, associate professor of motor neuron disorders at Columbia Medical School, about Sonja’s daughter, Anna. Anna was diagnosed with an aggressive, fatal form of ALS at the age of 16. ALS is rare in teenagers, and this form of ALS is the worst of the worst. Sonja tells Anna’s story initial symptom onset, to diagnosis, and to Anna's response to ASO treatment. As a parent, Sonja reveals her full range of emotions during the duration of her daughter’s disease: puzzlement, pain, humility, and now optimism.On This Episode We Discuss:Anna’s life before her symptoms appearedThe road to a diagnosis and treatment– from Germany to New York CityNeil Shneider and his work with ASOsThe struggles of a family fighting a nano-rare disorderAnna’s mutationAnna’s remarkable progress

Mostyn’s Story: Mother’s Day Special with Zoe Hummel

Motherhood is a journey filled with challenges, but every step is worth it for the love and joy it brings. Zoe Hummel joins the show in this special Mother’s Day episode to discuss her son Mostyn’s emotional story to diagnosis, and the unique challenges and triumphs of being a nano-rare mom.Order your Mother's Day card by May 6, 2024! All proceed support nano-rare patients.On This Episode We Discuss:How Zoe met her Husband, Mostyn’s fatherZoe’s Violin origins and playing with Rod StewartMostyn’s journey to a diagnosisZoe’s advice for parents observing abnormalities in their child's developmentMostyn’s severe epilepsyA road trip to Boston Children’s Hospital in the middle of winterThe ‘unlucky’ diagnosis of KCNB1For-profit companies promising false hope

Physicians and Institutions Transform the Lives of Nano-rare Patients with Olivia Kim-McManus, M.D.

Research physicians and their associated institutions are monumental to the mission of the n-Lorem Foundation and are truly transformational to the lives of the nano-rare patients they treat. Olivia Kim-McManus, M.D., was one of four physician panelists at our first Colloquium who participated in "A Physician's Perspective on n-Lorem and Nano-rare". Hear Olivia's outlook on nano-rare patients and how the support of an institution like UCSD Rady Children’s Hospital makes all the difference.On This Episode We Discuss:1:55 When Dr. McManus became interested in pediatric neurology and epilepsy 4:00 What ion channels do and why they play a role in epilepsy 5:17 How often is epilepsy genetically caused? 6:52 Why Dr. McManus and Rady Children’s Hospital choose to invest time and resources in helping nano-rare patients. 11:50 Bringing people together for a single forum at the Nano-rare Patient Colloquium inspires collaboration between groups 14:43 The importance of a network of treating physicians and institutions and sharing experiences and lessons learned 17:58 Interest within Rady Children’s Hospital regarding nano-rare patient treatment and ASOs 21:45 A Physician’s Perspective of Nano-rare and n-Lorem

Advanced Genetics Part 2

Genetics can be intricate, no doubt. With millions of mutations present in every human, one might wonder why not everyone is impacted by pathogenic diseases. The Patient Empowerment Program aims to assist you in grasping the fundamental concepts of various mutations and how they function, paving the way for you to enhance your understanding of genetics. Delve into the diverse array of disease-causing mutations, their characteristics, and explore which mutations could potentially be addressed through ASO treatment in this concluding episode of Advanced Genetics.On This Episode We Discuss:The nature of a SNPPre-mature-m-RNA effectsIndels can disrupt the reading frameDefining Alleles, Homozygous, Heterozygous, and Compound HeterozygousThe difference between whole exome and genome sequencingHow we, at n-Lorem, decide which patients are amendable to ASO treatmentsHow we design ASOs to take advantage of different post-RNA binding mechanismsMechanisms: Non-allele selective RNAse H1, Allele-selective RNAse H1, and Splicing ASOs

Advanced Genetics Part 1

Each time one of the cells in your body divides to form a new cell, 3 BILLION genetic letters must be accurately duplicated. That’s a big number and mistakes DO happen in everyone. That’s right, if you’re reading this, you have a genetic mutation.On This Episode We Discuss:Your genetic alphabet – nucleotidesHow to think about DNA ReplicationTypes of mutationsWhat is an SNP and why you should careIndelsThe genetic codeHow genetic information is translated into a protein

Sharing Hope Through Storytelling & Connection with Shanna Tolbert

What's one way to spread hope? By sharing your experiences and connecting with others who truly understand the everyday challenges nano-rare patients face. Shanna Tolbert was one of five nano-rare patient caregivers who participated in the panel, The Perilous Journey to Diagnosis and Treatment for Nano-rare Disease Patients. Listen to Shanna’s take on the importance of dialogue and relive a few patient stories as told by the parents who participated in this panel.On this episode, we discuss:0:56 The importance of hope3:38 Meeting other nano-rare caregivers and staying connected6:48 The Nano-rare Patient Colloquium is intimate 12:41 Patients in attendance are one of the joys of the NRPC16:35 Patient Journey - Connor20:55 Patient Journey - Mostyn25:27 Patient Journey - Lena32:32 Patient Journey - Ireland39:29 Comments from patient father, Luke RosenVideo: Susannah's Story: Treated with an ASO