Patient Empowerment Program: A Rare Disease Podcast

Knowledge is Power: Part 1

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

Adopting a Rare Son with Paul Compton

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, 2024Make Hope Possible with a donation

Ion Channel Mutations: The Complexities of Treatment

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 ChoiceSurvey – Patient Empowerment Program PodcastRegister for the 2024 Nano-rare Patient ColloquiumOn 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

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