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.

On This Episode We Discuss:

• Two most common words in medicine: Health and Disease
• The Scientific Method
• The Importance of Single Variables
• Orthogonal Thinking
• We Are at a Unique Moment in Medical History
• Genomics
• Advances in Omics
• Biological Networks and AI
• Facile Collection, Maintenance, Growth and Differentiation in the Lab
• Antisense Technology

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:

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

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/

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 world of RNA
• Leaving academia to impact lives
• Lessons learned from experiencing drug discovery and development
• The reason she joined n-Lorem
• Day-to-day activities as Director of ASO Design and discovery
• n-Lorem’s internal research management committee to make key decisions regarding programs
• Ongoing research at n-Lorem to enhance allele selectivity
• Stan 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/

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.

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 appeared
• The road to a diagnosis and treatment– from Germany to New York City
• Neil Shneider and his work with ASOs
• The struggles of a family fighting a nano-rare disorder
• Anna’s mutation
• Anna’s remarkable progress