Patient Empowerment Program: A Rare Disease Podcast

A Diagnostic Odyssey: The UDN and n-Lorem’s Roles

Dr. 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 treat committee (ATTC), the committee that evaluates and recommends patients to n-Lorem. Dr. Cole discusses the robust processes involved in the evaluation of each application to n-Lorem and the hope and value that n-Lorem is providing to nano-rare patients today.

Biological Systems & Chemical Networks

We 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 are also chemicals. Drugs enter an organism and make their way through biological systems to interact with many chemicals. Sometimes those interactions lead to changes in the chemicals with which the drugs interact, altering one’s physiology or psychology. One must have a keen understanding of basic scientific terminology, these chemical networks, and biological systems to create drugs and use them to make a difference in all patient populations. Ready? Let’s get started.

What 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 do. With this series, we’re building a community for nano-rare and bringing the basic science behind drug discovery and development directly to patients and their families.

Susannah’s Story with Dr. Wendy Chung and Luke Rosen

Dr. 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.

Patient Empowerment Program

We are excited to announce n-Lorem’s brand new podcast, the "Patient Empowerment Program".There are podcasts about genetics and rare diseases, but we didn’t find one focused on nano-rare diseases, conditions that affect 30 or less people in the world. Listen to this trailer to hear a sneak peak at what’s coming up on the podcast.There are going to be two types of episodes on this podcast, interviews and lessons. All episodes are hosted by biotech titian, Dr. Stan Crooke. He is the Founder, Chairman and CEO of the n-Lorem Foundation. Here’s how you can support our podcast launch: Rate & Review the podcast on Apple, Spotify, or wherever you listen. This truly helps us climb the charts and allow others to find the show. After you do that send it to a friend who you think will enjoy our podcast. And good news, you don’t have to wait long for the podcast, we are launching next week on May 25th, 2022 with three new episodes! So hit that subscribe button. For more information about n-Lorem and our podcast visit nlorem.org. Any questions can be sent into podcast@nlorem.org. Stay updated with the show by following us on social media, search “n-Lorem” on all platforms. Our videographer is Jon Magnuson of Mightyone Productions. Our producers are Kim Butler, Amy Williford, Jon Magnuson, and myself, Kira Dineen of "DNA Today".