Shows
Patient Empowerment Program: A Rare Disease PodcastHope for Kinsley: Facing TUBB4A with Courage and CareSarah and Ryan Marta, proud parents of three girls from Central Texas, began noticing that their middle daughter, Kinsley, was slow to reach mobility milestones in her early years. During a visit to a friend’s house, concerns about her vision were raised, prompting a check-up. What began as a single hospital visit quickly turned into many. An MRI revealed abnormal levels of white matter in Kinsley’s brain—leading to the devastating and confusing diagnosis of a nano-rare neurodegenerative disease called TUBB4A.
Looking high and low for help, they eventually discovered n-Lorem, a non-profit that discov...
2025-08-0617 min
Patient Empowerment Program: A Rare Disease PodcastNew Insights into Genetically Caused Developmental DelaysEmerging observations from our work at n-Lorem suggest that not all developmental delays are permanent. In the absence of structural damage—such as microcephaly, congenital deformities of the skull or bones, or organ malformations—there appears to be potential for improvement in movement disorders, cognition, autistic features, and more. These insights point to a level of resilience and plasticity in the central nervous system that may be greater than previously believed, and they are beginning to reshape how the scientific community understands the brain.
On This Episode We Discuss:
2:12 The idea that a missed or delayed deve...
2025-07-2321 minPatient Empowerment Program: A Rare Disease PodcastResearch to Advance ASO Technology at n-LoremAt n-Lorem, every investment decision carries real weight by directly affecting the nano-rare patients we serve. We think very deeply about each decision of how to invest the limited and precious dollars that we have. But what about investing in basic research to advance antisense oligonucleotide (ASO) technology for the future? Certainly, most of the money should and is being put towards creating ASOs to help patients in need today. Meanwhile, it is also our belief that we must invest to continue innovating and, in this episode, we explore the research occurring at n-Lorem today that will lead to...
2025-07-0923 min
Patient Empowerment Program: A Rare Disease PodcastCommitment to Safety First: The DSMBThe Data Safety Monitoring Board (DSMB) is composed of distinguished, independent experts in antisense oligonucleotide (ASO) technology, clinical trial design and evaluation, and drug development. Many are also dedicated clinicians who care for patients with rare diseases. This board provides unbiased safety oversight by reviewing accumulated data from all investigator-initiated studies involving n-Lorem’s ASO medicines.
n-Lorem's DSMB is chaired by Dr. Eugene Schneider, Executive Vice President and Chief Clinical Development and Operations Officer at Ionis Pharmaceuticals.
On This Episode We Discuss:
2:20 – What is the Data Safety Monitoring Board at n-Lorem?
6:50 – Monitoring the dat...
2025-06-2531 min
Patient Empowerment Program: A Rare Disease PodcastConnor Gooley's Story: A First for TUBB4A TreatmentConnor Gooley is the first patient ever treated with an ASO for TUBB4A-Related Leukodystrophy, a condition that severely disrupts his nervous system, slows nerve impulses, and impairs his fine motor skills. As a result, Connor cannot speak, walk, sit up on his own, or chew well. Still, he manages to army crawl, propel himself in his wheelchair, and use a gait trainer. He’s also remarkably resilient—rarely crying or complaining despite the daily challenges he faces.
In this episode of the Patient Empowerment Program, Connor’s parents, Diana and Mike, share their family’s journey from dia...
2025-06-1146 min
Patient Empowerment Program: A Rare Disease PodcastWhat Are iPSCs—and Why Do They Matter?Induced pluripotent stem cells (iPSCs) are a groundbreaking, and mind-blowing, scientific advancement—one of many that help make it possible for n-Lorem to do what we do. In short, typical skin cells (such as fibroblasts) are taken from an individual and reprogrammed using specific factors to become iPSCs. These iPSCs are then redifferentiated into any desired cell type in the body, such as muscle or liver cells. You can do that? Yes, and we do! The most common cell type that we use at n-Lorem are neurons (nerve cells). These cells are not easily accessible in living humans without se...
2025-05-2820 min
Patient Empowerment Program: A Rare Disease PodcastBiological Systems & Chemical NetworksWhat Are Chemicals? | How Drugs Work in the Body | Understanding Homeostasis
We’re all made of chemicals—but what exactly is a chemical? In this video, we break down the basics: chemicals are forms of matter that exist as solids, liquids, or gases. Inside living organisms, these chemicals create complex networks that keep us alive and balanced—a process known as homeostasis.
Drugs are chemicals too! They work by interacting with these biological networks to help restore or adjust how the body functions. Whether you’re a curious learner, a patient, or a future scientist, understa...
2025-05-1425 min
Patient Empowerment Program: A Rare Disease PodcastWhy ASO Technology?What makes antisense oligonucleotides (ASOs) so special?
Let’s first understand what an oligonucleotide is. An oligonucleotide is a short strand of synthetic DNA or RNA (a nucleic-acid chain), usually consisting of up to approximately 20 nucleotides long—designed to bind with specific sequences in the body.
At n-Lorem, our ASO technology is built on more than 30 years of research, innovation, and investment. It’s uniquely suited for treating nano-rare diseases—ultra-rare genetic conditions that affect just one or a few individuals. The versatility and specificity of ASOs allow us to address a wide variety of gene mut...
2025-04-3029 min
Patient Empowerment Program: A Rare Disease PodcastConnor Dalby's Story: n-Lorem Patient #001 with Kelley Dalby and Dr. Olivia Kim-McManusConnor Dalby was born with an SCN2A ion channel mutation causing severe epilepsy and eventually leading to hospice care at an early age.
It was a chance hallway conversation between Connor’s mom and Dr. Stan Crooke at a conference that sparked the idea for what would become n-Lorem. In a full-circle moment, Connor went on to become the very first patient applied to and accepted by the foundation, giving him the designation 'Patient #001'.
In March 2024, Connor received his personalized ASO medicine, and while Dr. Olivia Kim-McManus of Rady Children’s Hospital continues to fine-tune the optimal dose and sc...
2025-04-1638 min
Patient Empowerment Program: A Rare Disease PodcastOur Mission is Personal with Sarah GlassFor 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 Bi...
2025-04-0241 min
Patient Empowerment Program: A Rare Disease PodcastHow Cells Phone a Friend: Local CommunicationOur 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 w...
2025-03-1921 min
Patient Empowerment Program: A Rare Disease PodcastHow Cells Phone a Friend: Long Distance CommunicationHow 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...
2025-03-0536 min
Between the Biotech WavesS2 E3: A Between The Biotech Waves Conversation with Stan Crooke, Ionis & N-Lorem FounderIn today's episode, I am honored to welcome Stanley Crooke, the founder and CEO of Ionis Pharmaceuticals the first and leading antisense oligonucleotide biotech and founder, CEO and Chair of N-Lorem, a not for profit entity developing ASOs for ultra rare diseases. Stan is THE pioneer in the field of antisense oligonucleotide based RNA-targeted therapies. With a deep passion for science and innovation, Stan has dedicated his career to transforming the landscape of drug discovery and development, resulting in groundbreaking therapies that address some of the most challenging diseases.Stan's journey in biotechnology is truly inspiring, he comes...
2025-02-201h 04Patient Empowerment Program: A Rare Disease PodcastRosie’s Story: A Nano-rare Treatment PioneerRosie 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 h...
2025-02-1949 minPatient Empowerment Program: A Rare Disease PodcastSloane's Story: A Shared MedicineSloane 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...
2025-02-0553 min
Patient Empowerment Program: A Rare Disease Podcast5-years of n-Lorem: What Have We Learned?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 patien...
2025-01-2245 min
Patient Empowerment Program: A Rare Disease PodcastI Sing the Body ElectricWalt 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 scienc...
2025-01-0833 min
Patient Empowerment Program: A Rare Disease PodcastQ&A - 2024 Nano-rare Patient Colloquium Recap
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 be...
2024-12-1824 min
Patient Empowerment Program: A Rare Disease PodcastBest of the 2024 Nano-rare Patient ColloquiumThis 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 wa...
2024-12-0458 min
Patient Empowerment Program: A Rare Disease PodcastSusannah's Progress: Two Years of ASO Treatment with Dr. Jennifer Bain and Luke RosenTwo 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 fi...
2024-10-1640 min
Patient Empowerment Program: A Rare Disease PodcastSneak Peek of the 2024 Nano-rare Patient ColloquiumTake 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...
2024-10-0241 min
Patient Empowerment Program: A Rare Disease PodcastThe Building Blocks of What's Possible with David Butler, Ph.D.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...
2024-09-1829 min
Patient Empowerment Program: A Rare Disease PodcastKnowledge is Power: Part 2The 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 the...
2024-09-0329 min
Patient Empowerment Program: A Rare Disease PodcastKnowledge is Power: Part 1The 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 PodcastRegister for the 2024 Nano-rare Patient ColloquiumOn 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, Ma...
2024-08-2135 min
Patient Empowerment Program: A Rare Disease PodcastAdopting a Rare Son with Paul ComptonPaul Compton and his wife Andrea chose to start a family through adoption. Unknown to anyone, one of their adopted boys, Taeson, was the inheritor of DRPLA, a progressive brain disorder caused by a mutation in the ATN1 gene. Determined to find a treatment and advocate for their son and others with the disease, the Comptons established CureDRPLA. In early 2024, Taeson received his initial treatment with an ASO discovered and developed by n-Lorem. Paul discusses his family’s journey and shares his observations of Taeson's progress since beginning treatment.
In This Episode We Discuss:
3:05 – Paul's orig...
2024-08-0733 min
Patient Empowerment Program: A Rare Disease PodcastIon Channel Mutations: The Complexities of TreatmentMutations 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 En...
2024-07-2430 min
Patient Empowerment Program: A Rare Disease PodcastWhy We Dose IntrathecallyThe 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)
Th...
2024-07-1029 min
Patient Empowerment Program: A Rare Disease PodcastBehind 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 Crete
Leaving Greece to attend grad school at the University of Oxford
An internship led Nadina to the wo...
2024-06-2627 min
Patient Empowerment Program: A Rare Disease PodcastBest of the 2023 Nano-rare Patient ColloquiumWe’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 d...
2024-06-1236 min
Patient Empowerment Program: A Rare Disease PodcastThe 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.
2024-05-2950 min
Patient Empowerment Program: A Rare Disease PodcastAnna’s Story of Hope and Help: FUS-ALS with Sonja Kämpfer and Dr. Neil ShneiderStan 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 E...
2024-05-1543 min
Patient Empowerment Program: A Rare Disease PodcastMostyn’s Story: Mother’s Day Special with Zoe HummelMotherhood 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 father
Zoe’s Violin origins and playing with Rod Stewart
Mostyn’s journey to a diagnosis
Zoe’s advice for...
2024-05-0150 min
Patient Empowerment Program: A Rare Disease PodcastPhysicians 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...
2024-04-1748 min
Patient Empowerment Program: A Rare Disease PodcastAdvanced Genetics Part 2Genetics 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 SNP
Pre-mature-m-RNA effects
...
2024-04-0325 min
Patient Empowerment Program: A Rare Disease PodcastAdvanced Genetics Part 1Each 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 – nucleotides
How to think about DNA Replication
Types of mutations
What is an SNP and why you should care
Indels
The genetic code
How genetic information is translated into a protein
2024-03-2030 min
Patient Empowerment Program: A Rare Disease PodcastSharing Hope Through Storytelling & Connection with Shanna TolbertWhat'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 hope
3:38 Meeting other nano-rare caregivers and staying connected...
2024-03-0643 min
Patient Empowerment Program: A Rare Disease PodcastOur Mission is Personal with Sarah GlassFor n-Lorem’s Chief Operating Officer, Sarah Glass, the mission of n-Lorem is personal. Her son Ethan was diagnosed with a nano-rare mutation. A geneticist by training, she joined n-Lorem to oversee and direct the organization’s efforts to provide hope and potential help to those who need it most. It's more than just a job for her; she's powered by her son and the entire nano-rare community.
1:20 Sarah’s background, early life, and scientific interests
7:20 Thinking about the patient experience while at a Contract Research Organization
8:43 Rare disease trails are relatively new
...
2024-02-2140 min
Patient Empowerment Program: A Rare Disease PodcastQ&A #2 with Patient FamiliesCharissa Lipman joins n-Lorem founder and CEO, and host of the Patient Empowerment Program Podcast, Dr. Stan Crooke, in this question-and-answer episode to discuss additional questions asked during the 2023 Nano-rare Patient Colloquium. Charissa attended the inaugural Colloquium in October 2023 and brings the perspective of a patient family member, discussing her experiences and takeaways from the meeting. She is the mother of Ryker, a nano-rare n-Lorem patient with a CACNA1A genetic mutation. Stan and Charissa sit down to have a conversation and together address questions from the nano-rare community.
Do you have a question you want to...
2024-02-0745 min
Patient Empowerment Program: A Rare Disease PodcastEverybody Lives with Dan DoctoroffWe're diving into the archives to resurface this top downloaded episode from last year. Dan Doctoroff joined Patient Empowerment Program in February 2023 to talk about his mission to support a world where everyone with ALS lives. Dan is the former NYC deputy mayor for economics and former CEO of both Bloomberg L.P. and Sidewalk Labs. In this episode, Dan discusses his family’s battle with amyotrophic lateral sclerosis (ALS), his own inspiring story of how his diagnosis completely changed his outlook on life and his work with the foundation he started, Target ALS.
2024-01-2448 min
DNA Today: A Genetics Podcast#272 Clinical Trials for One Patient with Dr. Joe GleesonThis episode was originally released on the Patient Empowerment Program podcast, where our host Kira Dineen serves as a Producer. Sometimes you might even hear Kira’s voice in promos and ads.
In this podcast, Dr. Stan Crooke and Dr. Gleeson discuss the importance of genomics for neurology and how genetic information is changing how the medical community approaches neurological diseases.
Dr. Joseph Gleeson is n-Lorem’s Chief Medical Officer and holds a Rady Children’s Hospital Auxiliary Endowed Professorship of Neuroscience. He is an Investigator with the Simons Foundation for Autism Re...
2024-01-1925 min
Patient Empowerment Program: A Rare Disease PodcastBest of the 2023 Nano-rare Patient ColloquiumFor the return of the patient empowerment program podcast, 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 an emotional story told by a loved one, and imagine a future where commercial drug discovery organizations can fo...
2024-01-1039 min
Patient Empowerment Program: A Rare Disease PodcastHow to Think About ”Risk” Part 2Nano-rare diseases strip power from families and this often leads to hopelessness, anger, and dread. However, channeling these intense emotions to carefully navigate risk/benefit decisions is within one’s control.
n-Lorem is different than standard drug development settings. Every risk/benefit decision that n-Lorem makes is in the context of the individual patient’s symptoms, status, and needs. While we cannot promise benefit, we can promise that we will do our very best in the creation of an optimal medicine.
On This Episode We Discuss:
Risk/benefit decisions
n-Lorem is different
We cannot make...
2023-12-1335 min
Patient Empowerment Program: A Rare Disease PodcastHow to Think About ”Risk” Part 1“How to Think About Risk” is arguably the most crucial topic ever discussed on the Patient Empowerment Program. Navigating decisions with substantial risk can be challenging, intricate, and even intimidating. The ability to detach from the intense emotions surrounding these choices is critical for making the best and most logical decisions.
On This Episode We Discuss:
Why nano-rare patients and their families need to think effectively about risk
Risk vignettes: infectious diseases, automobile and smoking deaths
A rational way to think about risk
Being comfortable with a probabilistic reality
The 80/20 rule
Considering consequences
The process to asse...
2023-12-0642 min
Patient Empowerment Program: A Rare Disease PodcastInheriting Huntington’s Disease and Aspiring to Prolong Lives with Jeff CarrollJeff Carroll, Ph.D., inherited a gene that will eventually lead to symptoms of Huntington’s Disease. Alongside researching this debilitating disease as an Associate Professor of Neurology at the University of Washington, he’s a Scientific Advisor for n-Lorem and member of the Access to Treatment Committee (ATTC) that helps screen and assess submitted patient applications.
On This Episode We Discuss:
2:45 Joining the Amy on a whim
4:30 Serving in Kosovo and Germany
6:00 Learning that his mother was diagnosed with Huntington’s disease (HD)
10:25 Seeking information and diving into the world of Biology and HD
14:52 Deciding to hav...
2023-11-2938 min
Patient Empowerment Program: A Rare Disease PodcastLiving a Longer, Healthier, and More Fun Life with Chip WilsonChip Wilson, the creator of Lululemon and SOLVE FSHD, stands as a pioneer, business innovator, philanthropist, and a person affected by a rare disease. His passion for fitness led him to build a successful career in designing athletic wear, but a diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD), a degenerative muscle condition, altered his active lifestyle.On This Episode We Discuss:0:46 Working on the Alaska Oil Pipeline as a 17-year-old4:30 Saving money young and becoming an entrepreneur7:05 Following trends and founding Lululemon8:36 Chip’s initial dream and vision for Lululemon...
2023-11-081h 00
Patient Empowerment Program: A Rare Disease PodcastLiving a Longer, Healthier, and More Fun Life with Chip WilsonChip Wilson, the creator of Lululemon and SOLVE FSHD, stands as a pioneer, business innovator, philanthropist, and a person affected by a rare disease. His passion for fitness led him to build a successful career in designing athletic wear, but a diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD), a degenerative muscle condition, altered his active lifestyle.
On This Episode We Discuss:
0:46 Working on the Alaska Oil Pipeline as a 17-year-old
4:30 Saving money young and becoming an entrepreneur
7:05 Following trends and founding Lululemon
8:36 Chip’s initial dream and vision for Lululemon
11:45 Combining Italian design ethics with quality western fa...
2023-11-081h 00
The House of PodEpisode 204 - Portugal. The ManKaveh is joined by John and Zoe, from the band Portugal The Man to discuss their daughter's rare neurodegenerative disorder and they're joined by Dr. Stan Crooke, who's started the n-Lorem foundation to help find treatments for ultra rare genetic diseases just like this. Take a listen to hear about the struggles of navigating health care for patients and families and the exciting new world of treatments opening up with ASOs (Anti-Sense Oligonucleotides).Send your questions and comments to hopquestions@gmail.com Hosted on Acast. See acast.com/privacy for more information.
2023-11-071h 08
Patient Empowerment Program: A Rare Disease PodcastAutopilot: The Autonomic Nervous SystemThe Autonomic Nervous System automatically controls essential processes whether you’re awake or asleep. It’s the employee of the month. It gets the job done at any time of the day without you even having to ask it. It is our body’s autopilot system, controlling functions we often take for granted, like heart rate, digestion, pupil dilation, and even breathing! Life would be pretty hard on manual.
On This Episode We Discuss:
“I Sing The Body Electric”
Hemo and chemo-electric machines
The nervous systems
Autonomic nervous system manages many organs and involuntary functions
Sympathetic and parasy...
2023-10-1822 min
Patient Empowerment Program: A Rare Disease PodcastBetter Health, Brighter Future for Rare with Dan CurranDr. Daniel Curran leads Takeda’s efforts to unlock innovation and deliver transformative medicines in a variety of rare-disease areas. Dan embraces learning from, collaborating with, and meeting members of the rare disease community in an effort to produce treatments that result in better health and a brighter future for rare.
2:02 How rare disease is defined at Takeda
4:10 Rare disease units at Takeda
5:23 How Takeda economically justifies half of their pipeline being rare disease drugs
9:06 The price of rare disease drugs is too high
12:15 Why rare disease efforts are often associated with hematology
14:57 What Dr. Curran enjoys about le...
2023-10-0429 min
Patient Empowerment Program: A Rare Disease PodcastSneak Peek of the 2023 Nano-rare Patient ColloquiumAs the first ever Nano-rare Patient Colloquium is just around the corner, we are flipping the script. Spectrum News’ Brady Huggett interviews n-Lorem founder and CEO, Dr. Stan Crooke, and picks his mind to understand the inspiration behind the creation and want for this first of its kind nano-rare community event. Along with some background information on the highly anticipated Colloquium, Stan candidly conveys n-Lorem's hurdles and joys in its first four years of service.
2023-09-2036 min
Patient Empowerment Program: A Rare Disease PodcastLiver: DiseasesLiver disease is a broad term encompassing a range of conditions that affect the liver's structure and function. The liver is extremely important as it wears many different hats when it comes to your body functioning properly like controlling metabolism, storing and breaking down nutrients for use, detoxification and more! No wonder there are many diseases associated with liver disfunction including various genetic ones. Get ready to explore... you guessed it, various diseases of the liver!
On this episode we discuss:
Controlling inflammatory processes
Liver failure
Genetic disease pathways
Drug metabolism
Fatty liver
Blood tests signal...
2023-08-2314 min
Patient Empowerment Program: A Rare Disease PodcastLiver: The Master ChemistThe liver is a master chemist that sends copious signals to help control our appetite and breaks down fats to be stored and used as energy and to combat starvation. Next time you’re hangry, think of your liver kicking into overdrive.
On This Episode We Discuss:
Producing countless small chemical metabolites
Controlling iron homeostasis
The liver and the gut microbiome
Combatting starvation and triggering appetite
Managing glucose levels
2023-08-0920 min
Patient Empowerment Program: A Rare Disease PodcastLiver: Metabolic MagicThe liver has many important and magical metabolic functions. It converts the nutrients in our diets into substances that the body can use and filters toxic substances out from the body. You won't believe the sheer metabolic mayhem that happens behind the scenes!
2023-07-2630 min
Patient Empowerment Program: A Rare Disease PodcastBottling HopeArgonaut Manufacturing Services Inc. CEO, Wayne Woodard, joins the Patient Empowerment Program to detail how Argonaut bottles vials of hope for n-Lorem patients. Argonaut is n-Lorem's provider of Sterile Fill-Finish for an optimal ASO. This means that the lyophilized ASO powder, which was manufactured with good manufacturing practices (GMP), gets formulated and aliquoted into sterile vials. The final product is tested for various attributes to ensure maximal quality. Once assessed and approved, the finished product is then ready to be administered to a nano-rare patient by a qualified research physician at an established institution.
2023-07-1230 min
Patient Empowerment Program: A Rare Disease PodcastPursuing Diagnoses and SequencingGay Grossman is the mother of an n-Lorem patient and co-founder of ADCY5.org. She has been active in the rare disease space for 25+ years and continues to fight and advocate for patients every single day by connecting ADCY5 families, speaking at events, and informing the entire rare community. On Wednesday, Gay joins the Patient Empowerment Program podcast to discuss her daughter, Lilly, lessons that she has learned as a rare disease mom and advocate, the difficulty of gathering and sharing medical records before the creation of Ciitizen, and why newborn genomic sequencing should be introduced in the United...
2023-06-2842 min
Patient Empowerment Program: A Rare Disease PodcastLungs: Heavy Breathing — Diseases and ObstructionsBrace yourself for a deep dive into the various categories of lung disease. Obstructed airways and restricted blood flow pose significant risks to your body. So, learn preventive measures to safeguard your respiratory health. From pneumonia to the disruption of pulmonary blood flow, we'll explore the different culprits that block the flow of air and blood!
On this episode we discuss:
Obstruction of the airways due to smoking, cancer, infectious diseases, etc
Obstruction of pulmonary blood flow
Obstruction of gas exchange
Interference with the inflation and deflation of lungs
2023-06-1416 min
Patient Empowerment Program: A Rare Disease PodcastLungs: Defending AirwaysLet's take a deep breath and fill our lungs with air. Ahh, doesn't that feel good? Our lungs are responsible for taking in oxygen from the air we breathe and distributing it to organs throughout our bodies and then ridding those organs of carbon dioxide. Get ready to dive into a fascinating episode on our lungs and how they protect us against particles, toxins, and infectious organisms in the air we breathe. The tinier the foreign particle, the more harmful they are! Let's explore the superhero-like abilities of these incredible organs, our lungs.
2023-05-3126 min
Patient Empowerment Program: A Rare Disease PodcastOne Year Anniversary: It Takes a Rare CommunityMay marks a year of podcasting for us, and we’re thankful for all those who have participated and the growing number of people who have listened to the podcasts. We are pleased with the overwhelming support for the podcast and the willingness of our partners and patients to share their stories.
We launched our Patient Empowerment Program with the purpose of building a nano-rare community and establishing a forum in which the voices of patients, advocates, and experts can come together focused on the nano-rare patient. We’re happy to report that we believe we have done...
2023-05-1745 min
Patient Empowerment Program: A Rare Disease PodcastComing Together for the Nano-rare PatientThis episode is proudly sponsored by our partner, Alnylam Pharmaceuticals, the leading RNAi therapeutics company. When Stan Crooke ran Ionis and John Maraganore ran Alnylam, they were partners that turned into rivals — and not always friendly ones — as they persevered to pursue an entirely new therapeutic space; RNA-targeted drug discovery and development. Now, the pair of drug discovery titans have united once again in support of Dr. Crooke’s n-Lorem Foundation—working to provide personalized medicines to the rarest of rare disease patients (nano-rare) using the antisense oligonucleotide (ASO) technology Stan led the creation of at Ionis. In this episode...
2023-05-0331 min
Patient Empowerment Program: A Rare Disease PodcastQ&A #1 with Patient FamiliesAmber Freed and Shanna Tolbert join n-Lorem founder and CEO, Stan Crooke, for the first ever Patient Empowerment Program Q&A episode. Amber and Shanna are two nano-rare patient mothers and rare disease advocates who have experience with the n-Lorem pathway to treatment as caregivers. Through their experiences, and by canvasing others in the nano-rare community, they’ve compiled questions aimed to help current and potential n-Lorem patients and their families become more knowledgeable about the process, receive advice, understand side effects, and more! Stan sits down with these patient families to have a conversation and together address questions fr...
2023-04-1951 min
Patient Empowerment Program: A Rare Disease PodcastBits and Bytes Help Streamline Bench to BedsideThe creation of a drug consists of a copious and complicated series of projects that are all intertwined. Andy Mehrotra, CEO of Unipr, joins the Patient Empowerment Program to discuss how Unipr’s AI based cloud program, project, and portfolio management platforms allow organizations like n-Lorem to quickly analyze data to inform program management. Today, n-Lorem effectively manages more than 90 accepted patient programs thanks to help from Unipr. Discovering locations where productivity can be increased while maintaining quality in every step is critical to treating as many nano-rare patients as possible.
On This Episode We Discuss:
An...
2023-04-0521 min
Patient Empowerment Program: A Rare Disease PodcastFostering Collaboration to Fight ALSManish Raisinghani joins the Patient Empowerment Program to discuss how Target ALS fosters collaboration between academia and industry to research and accelerate the fight against ALS. Target ALS has funded over 50 collaborative projects. Greater than 50% of which have had an industry partner and over 60% have resulted in an ongoing drug discovery program. From their Innovative Ecosystem, 6 clinical trials have emerged. Target ALS’ commitment to fight all forms of ALS, no matter how rare, is evident in their founding support of Silence ALS, an initiative that aligns Columbia University and n-Lorem to offer an integrated solution to identify, support and po...
2023-03-2231 min
Patient Empowerment Program: A Rare Disease PodcastThe Energy of LifeRegardless of the circumstances, life finds a way! Jurassic Park got that one right. Cells need to live and depending on the conditions they will use one of two systems that take nutrients, break them down and use that process to generate energy. That energy is needed to sustain life – hence why it is called The Energy of Life. All the order that you see in the night sky, like planets, star clusters and galaxies, are due to an incredible amount of energy in the universe, creating order out of chaos. The amount of chaos and disorder is measured in...
2023-03-0825 min
Once Upon A GeneEvery Patient Matters - Discovering, Developing, and Providing Experimental ASO Treatments to Nano-Rare Patients for Free with n-Lorem Founder and CEO Stan CrookeONCE UPON A GENE - EPISODE 175Every Patient Matters - Discovering, Developing, and Providing Experimental ASO Treatments to Nano-Rare Patients for Free with n-Lorem Founder and CEO Stan CrookeStan Crooke is the Founder and CEO of the n-Lorem Foundation. He's also the Founder and former CEO of Ionis Pharmaceuticals, the leader in RNA-targeted therapeutics. Under his leadership at Ionis, he pioneered development of the revolutionary antisense technology platform and created one of the largest, most advanced pipelines in the biotechnology industry. His foundation is now using this technology to discover, develop...
2023-02-2339 min
Patient Empowerment Program: A Rare Disease PodcastEverybody LivesDan Doctoroff joins the Patient Empowerment Program to talk about his mission to support a world where everyone with ALS lives. Dan is the former NYC deputy mayor for economics and former CEO of both Bloomberg L.P. and Sidewalk Labs. In this episode, Dan discusses his family’s battle with amyotrophic lateral sclerosis (ALS), his own inspiring story of how his diagnosis completely changed his outlook on life and his work with the foundation he started, Target ALS.
On This Episode We Discuss:
Dan’s inspiration to bring the Olympic Games to NYC
3 things he lear...
2023-02-1547 min
Patient Empowerment Program: A Rare Disease PodcastCardiovascular System Part 4B: (The Spigot) Kidney DiseasesIf your car’s oil filter is clogged, it’ll lead to severe issues within your engine. The same goes for the blood filters of your body... but worse. The kidneys filter water-salable waste from the blood. As kidneys fail, waste builds up. A blockage in your kidneys may cause a heart attack, stroke, or kidney failure. Detecting kidney disease early on can save lives! While kidney disease isn't reversible, it can be treated to slow or stop the progression of the disease.
n-Lorem is accepting nano-rare kidney patients for treatment. Information about the application process and can...
2023-02-0122 min
Patient Empowerment Program: A Rare Disease PodcastCardiovascular System Part 4A: (The Spigot) Kidney FunctionsThere is so much filtration around you, you may not even notice. Your water, coffee, air, gasoline, and social media feeds... all filtered. So is your blood! It's just a part of everyday life at this point. This episode of the Patient Empowerment Program focuses on the functions of the spigot of the cardiovascular system – the Kidneys. Their main job? To remove water salable waste from the body along with other functions that are necessary for life. Did we mention that n-Lorem is accepting nano-rare kidney patients for treatment? Information about the application process and can be found at ww...
2023-01-1820 min
Patient Empowerment Program: A Rare Disease PodcastCardiovascular System Part 3: (The Pipes) Arteries and VeinsDrip... Drip. When your pipes are leaking, it's never a good thing. Who you gon’ call, YOUR DOCTOR! The next lesson in our ‘pipe’-line focuses on the pipes of the cardiovascular system - the Arteries and Veins. Learn about the arterial and venous systems that manage blood flows with differing pressures, high and low. However, both systems have mechanisms that control blood flow under unique conditions to supply our tissues with nutrients, remove waste, and keep us alive. In the event of a busted pipe, know that a plumber can’t help you. Call a doctor, because the pipes in...
2023-01-0424 min
Patient Empowerment Program: A Rare Disease PodcastCROs and Their Role for Nano-rareThis episode is sponsored by our partner, Parexel, one of the world’s largest clinical research organizations (CROs) providing the full range of Phase I to IV clinical development services. Parexel provides clinical operations, real-world data solutions, medical and regulatory expertise and innovative clinical research tools that significantly enhance and streamline n-Lorem’s therapeutic development efforts. Their depth of industry knowledge and strong track record gained over the past 40 years is moving the industry forward and advancing clinical research in healthcare’s most complex areas, like rare disease.
Jamie Macdonald, CEO of Parexel, joins Stan to discuss the mo...
2022-12-1427 min
Patient Empowerment Program: A Rare Disease PodcastCardiovascular System Part 2B: (The Pump) Heart DiseasesIn this episode, Stan continues his lecture series on organs, concluding his lesson on the pump of the cardiovascular system, the Heart. Organs are individual tissue components that help meet the needs of an entire organism (that's you). The heart is one of the most important, complex, and fascinating organs in your body - and we couldn't squeeze it into just one episode! Learn all about heart diseases in the final installment of this two-part series.
2022-11-3022 min
Patient Empowerment Program: A Rare Disease PodcastCardiovascular System Part 2A: (The Pump) Heart AnatomyIn this episode, Stan continues his lecture series on organs, focusing on the pump of the cardiovascular system – the Heart. Organs are individual tissue components that help meet the needs of an entire organism (that’s you). The heart is one of the most important, complex, and fascinating organs in your body. Learn all about the heart that’s working so hard for you in the first of a two-part series on this amazing organ.
2022-11-1620 min
Two Disabled Dudes200 - State of the Podcast and A Few Favorite MomentsWe have been doing this for 6 years - we're still friends, and we hope a few people have enjoyed listening. Let's celebrate episode 200 with a little reminiscing, a few old snippets, and a brief look at the future of the show. Some of our favorite epispdes that we mentioned: 055 - Facing the Realities of Physical Changes 073 - Jeff Bell Part 1 - What is OCD? Jeff's cause: The A2A Alliance | Adversity to Advocacy 083 - Reasons to Push Our Limits 166 - Ultra Rare Drugs at no Cost to The Patient - Stan Crooke Stan's cause: n-lorem F...
2022-11-0750 min
Patient Empowerment Program: A Rare Disease PodcastShifting Mindsets to Expedite Rare TreatmentsThis episode is sponsored by our partner, Ultragenyx, a biopharmaceutical company focused on the development and commercialization of novel therapies for serious rare and ultra-rare genetic diseases! Ultragenyx has been a loyal and proud supporter of n-Lorem and our patients.
Stan talks with a rare disease treatment advocate and the CEO, President and Founder of Ultragenyx, Emil Kakkis, MD, PhD, about why he has dedicated his career to supporting the rare disease community, what led him to establish the EveryLife Foundation, and the origins of Ultragenyx. Because of the debilitating and often quick progression of rare disease...
2022-11-0235 min
DNA Today: A Genetics Podcast#207 N-Lorem: Dr. Sessions Cole on the Diagnostic OdysseyAs some of you may know, our host Kira Dineen also co-produces the “Patient Empowerment Program” by n-Lorem. The podcast launched earlier this year and focuses solely on the needs of people with nano-rare diseases. These are people who have a unique pathogenic variant (aka mutation) that affects 30 or less people in the world, sometimes just one person.
The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where I picked his brain abou...
2022-10-2137 min
Patient Empowerment Program: A Rare Disease PodcastCardiovascular System Part 1: BloodFocusing on the cardiovascular system, Stan starts a new lecture series on organs. No, not the state in the Pacific Northwest and definitely not the large piped musical keyboard you’d find in a church or a ballpark. We’re talking about the collection of tissues within the body that perform vital functions for life. Organs! Part 1 focuses on that warm red liquid inside of you, blood! Now blood is not technically an organ. But, according to Stan, it should be. Dr. Crooke covers how the blood cycle delivers nutrients and oxygen to other organs through the hemoglobin protein, the...
2022-10-1939 min
Patient Empowerment Program: A Rare Disease PodcastComing Together for the Nano-rare PatientWhen Stan Crooke, M.D., Ph.D., ran Ionis and John Maraganore, Ph.D., ran Alnylam, they were partners that turned into rivals — and not always friendly ones — as they persevered to pursue an entirely new therapeutic space; RNA-targeted drug discovery and development. Now, the pair of drug discovery titans have united once again in support of Dr. Crooke’s n-Lorem Foundation—working to provide experimental personalized medicines to the rarest of rare disease patients (nano-rare) using the antisense oligonucleotide (ASO) technology he developed at Ionis. In this episode, Stan speaks with Dr. John Maraganore about John’s past, their form...
2022-10-0530 min
Patient Empowerment Program: A Rare Disease PodcastAntisense (How We Do It at n-Lorem)We’d like to thank our sponsor, Argonaut Manufacturing Services. Argonaut provides contract manufacturing and sterile fill-finish services for biopharmaceutical, diagnostics, and life science organizations. Argonaut’s expertise in sterile fill-finish is the last step in the complex process of providing personalized antisense oligonucleotide (ASO) medicines to nano-rare patients.
When considering if the technology he led the creation of could be a viable way to develop a drug for a single patient, addressing their specific mutation, Dr. Crooke felt that he had to try, patients were dying without access to any treatment because they were just too rare...
2022-09-2117 min
Patient Empowerment Program: A Rare Disease PodcastAnna’s Story of Hope and HelpIn this episode, Stan talks with Sonja and Dr. Neil Shneider, associate professor of motor neuron disorders at Columbia Medical School, about Sonja’s daughter, Anna. She is 17 years old and suffers an aggressive, fatal form of ALS. 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.
2022-08-3143 min
Patient Empowerment Program: A Rare Disease PodcastWhy ASO TechnologyWhat makes antisense oligonucleotides (ASOs) so special? Let’s first understand what an oligonucleotide is. An oligonucleotide is a short strand of synthetic DNA, or a nucleic-acid chain, usually consisting of up to approximately 20 nucleotides read from left to right. n-Lorem’s ASO technology is based on thirty years of innovation and investment to make ASOs drugs with optimal qualities. This technology is also uniquely beneficial for nano-rare patients due to its specificity and broad utility to address the myriad of mutations that nano-rare patients present. Each a unique program with a unique challenge.
Compared to other drug...
2022-08-1727 min
Patient Empowerment Program: A Rare Disease PodcastAdvocating for Rare PatientsIn this episode, Stan speaks with Wendy Erler about her involvement in the treatment of patients with rare genetic disorders. From her start in the pharmaceutical industry, to her involvement with every major platform of drug development, to her position as vice president and head of patient advocacy at Alexion; Ms. Erler has always ensured that a patient's voice is heard.
Learn more about Wendy Erler on twitter @wendy_erler
Please like and subscribe so that we can reach more potential patients and their family.
2022-08-0329 min
Patient Empowerment Program: A Rare Disease PodcastDrug Discovery PlatformsThere are three validated methods of discovering drugs – called platforms. Small molecule drugs (SMD), monoclonal antibodies (mAbs), and RNA-targeted drugs. SMDs are, you guessed it, very small! Remember that the size of chemicals is measured in units called Daltons, which is capitalized because it is named after the scientist who invented the term. The smallest chemical is a hydrogen ion, and it is 1 Dalton. Small molecule drugs are generally less than 500 Daltons. Because of this, they don’t carry much information and are not very specific in their ability to bind to proteins. A small change can alter the beha...
2022-07-2034 min
Patient Empowerment Program: A Rare Disease PodcastClinical Trials for One PatientIn this episode, Stan talks to Dr. Joe Gleeson about the role of genetics in neurology and pediatric patients with neurological conditions. Early in his training, Dr. Gleeson realized how prevalent it was that pediatric patients, especially those with neurological disorders, never received a diagnosis. Furthermore, in over half of these patients he felt that there were underlying genetic mutations causing these disorders. With the advent of genomic sequencing, now many of these mutations are identified, however few have any therapeutic options available. In this episode, the role of a genotype to define a phenotype is outlined and the...
2022-07-0622 min
Patient Empowerment Program: A Rare Disease PodcastHow Drugs are UsedDrugs are chemicals. They are like all other chemicals except that humans make a value judgement that a particular chemical (drug) will effect a desired change in a living organism. However, it’s important to note that a drug does what it does and there is no perfectly specific drug. So, drug effects always represent a mosaic of chemical interaction and effects. Each drug has properties that we humans hope will bring benefit to other humans. Those are the desired effects, but every drug produces effects other than the desired effect. Those are called side effects. But the drug do...
2022-06-2225 min
Patient Empowerment Program: A Rare Disease PodcastA Diagnostic Odyssey: The UDN and n-Lorem’s RolesDr. Sessions Cole shares his career being a neonatal pulmonologist and his involvement in the undiagnosed diseases network, the UDN. Dr. Cole estimates that it can take up to 12 years to get a diagnosis for a patient with a rare genetic condition and that there could be as many as 30 million of these patients in the U.S. who are undiagnosed. The UDN is working to elevate the awareness of the diagnostic odyssey these patients undertake and diagnose up to one third of patients who are referred to the UDN. Dr. Sesh is part of n-Lorem’s access to tr...
2022-06-0834 min
DNA Today: A Genetics Podcast#186 n-Lorem: Nano-Rare Diseases with Luke Rosen and Wendy ChungWe are thrilled to share a brand new podcast that Kira Dineen co-produces, the n-Lorem “Patient Empowerment Program”. The podcast just launched so we wanted to share the pilot episode with you! This podcast focuses solely, exclusively, on the needs of nano-rare patients. These are patients that have a unique pathogenic variant (mutation) that affects only them or less than 30 people worldwide. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where we picked his brain about nano...
2022-05-2753 min
Patient Empowerment Program: A Rare Disease PodcastBiological Systems & Chemical NetworksWe are all chemical engines. So, what exactly is a chemical? Chemicals are anything that occupies space in the universe and exist in either a solid, liquid, or gas form – matter! Chemicals within living organisms are considered biochemicals and are organized into chemical networks (an integrated chemical process that establishes life and the maintenance of homeostasis). Homeostasis is simply a scientific term that means maintenance of the status quo. So, a healthy living organism must respond to its environment and manage different threats. The systems that are designed to ensure that the cell remains healthy are called homeostasis. Drugs ar...
2022-05-2524 min
Patient Empowerment Program: A Rare Disease PodcastWhat is n-Lorem?n-Lorem provides an opportunity for a better life, renewed hope and brighter dreams, one patient, one family at a time. Our mission is to provide personalized experimental antisense oligonucleotide (ASO) medicines to treat nano-rare patients – for free, for life. Nano-rare patients describe a very small group of patients (1-30 worldwide) who, because of their small numbers, have few if any treatment options. We take advantage of the efficacy and versatility of ASO technology. ASO technology is the only technology with regulatory guidance to treat nano-rare patients. Rare diseases often cause people to do things that they’re completely untrained to d...
2022-05-2513 min
Patient Empowerment Program: A Rare Disease PodcastSusannah’s Story with Dr. Wendy Chung and Luke RosenDr. Stan Crooke talks to Luke Rosen and Wendy Chung about Luke’s seven-year old daughter, Susannah. Susannah has a genetic mutation that is progressive and debilitating. Susannah is also an n-Lorem patient, which means that we are hard at work discovering and developing a personalized experimental ASO medicine just for her, for her specific mutation. Her doctor, Wendy Chung, and Luke discuss Susannah’s life, her diagnosis and disease progression and the hope that they both have that there will be something that will make life better for her.
2022-05-2549 min