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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)
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2024 Nano-rare Patient Colloquium
On This Episode We Discuss:
3:10 Susannah's KIF1A mutation5:50 Luke and his wife Sally changed their careers to help find a treatment for KIF1A7:23 How Susannah's family first heard of n-Lorem8:43 Jen on the Columbia University Medical Center team and the decision to treat Susannah12:25 Luke's experience bringing his daughter to receive an experimental ASO treatment for the first time14:30 The positive outcomes and observations of Susannah's treatment26:15 What Dr. Bain has learned since treating Susannah29:15 Luke on the impact and importance of the little things31:15 Advice to other parents35:40 Being part of a community of nano-rare patients and families -
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
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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/
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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 PodcastRegister 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 diseasesWhat 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 -
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 PodcastRegister for the 2024 Nano-rare Patient ColloquiumOn This Episode We Discuss:
Two most common words in medicine: Health and DiseaseThe Scientific MethodThe Importance of Single VariablesOrthogonal ThinkingWe Are at a Unique Moment in Medical HistoryGenomicsAdvances in OmicsBiological Networks and AIFacile Collection, Maintenance, Growth and Differentiation in the LabAntisense Technology -
Paul 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 origins in business and finance
4:32 - Investment banking is different than traditional banking
7:27 – Opposites attract – Meeting his wife, Andrea, and starting a family through adoption
10:06 – Paul’s son, Tayson, has a progressive brain disorder known as DRPLA, which is caused by a mutation in the ATN1 gene; Discovering the idea of n-Lorem
16:03 – Tayson’s journey to a diagnosis
23:00 – The deterioration of his abilities over the years
25:00 – The progress Paul has observed in his son since initial treatment
Links:
Take our survey and receive an n-Lorem Store coupon code
Register for the 2024 Nano-rare Patient Colloquium / October 30-31, 2024
Make Hope Possible with a donation
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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.
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
Register for the 2024 Nano-rare Patient Colloquium
On This Episode We Discuss:
Defining Ion Channels and IonsHealth, Homeostasis, and Biological BufferingMultiple forms of the same geneMultiple Isoforms of Gene Product from the same geneNetwork redundancyIon Channels are different -
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/
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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 -
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/
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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.
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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 -
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 -
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
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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 -
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 -
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 hope
3:38 Meeting other nano-rare caregivers and staying connected
6:48 The Nano-rare Patient Colloquium is intimate
12:41 Patients in attendance are one of the joys of the NRPC
16:35 Patient Journey - Connor
20:55 Patient Journey - Mostyn
25:27 Patient Journey - Lena
32:32 Patient Journey - Ireland
39:29 Comments from patient father, Luke Rosen
Video: Susannah's Story: Treated with an ASO
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For 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
10:54 Sarah’s son, Ethan, is a nano-rare patient
16:15 How long it took for Ethan to receive a diagnosis
21:35 Ethan's diagnosis and symptoms
25:55 How Sarah heard about n-Lorem
29:30 How does one come to terms with caring for a nano-rare child; How do parents continue looking for opportunities of hope when they may feel hopeless
32:58 What Sarah has learned while at n-Lorem
36:48 The biggest surprises Sarah has encountered during her journey at n-Lorem
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Charissa 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 ask Stan Crooke? Email [email protected] for a chance to be featured in a future episode.
For general questions, email [email protected].
In this episode we answer:
08:25 As you are successful in discovering and developing individualized ASO for nano-rare patients, do you envision creating a library of ASOs that would be available to patients across the world?
10:29 For disease organization/patient advocacy groups that have several patients with the same mutation, should they apply for treatment as a group or separately?
13:16 Would an ASO developed for one patient work for another patient with a mutation in the same gene?
14:29 What's a SNP?
16:19 As a nano-rare family member, I have never been so inspired in an opening address as what was provided at the 2023 colloquium by Stan Crooke. Given the mission of n-Lorem, I don’t understand how any researching neurologist (or any researcher in the space) would not want to be at the absolute forefront of what n-Lorem is doing. Why do you think there is such an obstacle to being a part of an organization that has for the first time an opportunity to move the needle in such a meaningful way?
20:16 How would you describe the relationship between n-Lorem and the research physician, and what should patients expect from each side?
23:44 What do you mean by an optimized ASO?
24:59 Would you expect to see better results from ASO treatment in patients who are younger versus older?
28:10 The FDA has certain designations for program review (Fast Track, Orphan, etc,), is there anything like that for nano-rare patients?
29:35 I realize that there was significant work done in 2023 to streamline n-Lorem’s operations. Which processes in the workflow do you believe can still be optimized to help streamline patient programs?
31:35 Has there been a change in the amount of time it takes to process a patient and develop and ASO since the Foundation started?
32:50 Do you reach out to patients which presumably have ‘ASO-able’ genetic mutations?
34:12 Do you have any activities or ongoing projects that would help educate and train physicians who might be interested in participating with n-Lorem?
36:05 Are there any new updates regarding the 2024 Nano-rare Patient Colloquium?
41:36 Say a patient is denied from n-Lorem because at the time of their application submission, the Access to Treatment Committee declares that the program is not amendable to the current technology and/or ASO strategies, but new data/technology comes out that suggests that patient’s program has revived potential... will the ATTC automatically reassess the case or does a physician have to re-apply the patient to n-Lorem?
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We'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.
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