Patient Empowerment Program: A Rare Disease Podcast

Sneak Peek of the 2023 Nano-rare Patient Colloquium

As 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.

Liver: Diseases

Liver 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 processesLiver failureGenetic disease pathwaysDrug metabolismFatty liverBlood tests signal liver disfunction

Liver: The Master Chemist

The 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 metabolitesControlling iron homeostasisThe liver and the gut microbiomeCombatting starvation and triggering appetiteManaging glucose levels

Liver: Metabolic Magic

The 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!

Bottling Hope

Argonaut 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.

Pursuing Diagnoses and Sequencing

Gay 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 States today.On This Episode We Discuss:0:00 What is Ciitizen?3:14 The difficulty of sharing medical records before Ciitizen5:55 Gay’s daughter, Lilly, is an n-Lorem patient10:00 Finding an initial pediatrician to help Gay and her family diagnose and understand Lilly’s gene mutation11:45 Lilly’s nightly seizures and wondering what it would take to receive a diagnosis15:05 How caffeine helps Lilly and others with ADCY5 mutations18:35 What Lilly is doing nowadays19:48 How Lilly’s genes were sequenced21:00 Advocating to introduce newborn sequencing into newborn screenings23:30 What was known upon diagnosis and other’s with ADCY5 mutations28:13 Lessons that Gay learned from her 25+ years of rare disease care and advocacy33:19 The progress n-Lorem has made since inception

Lungs: Heavy Breathing — Diseases and Obstructions

Brace 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, etcObstruction of pulmonary blood flowObstruction of gas exchangeInterference with the inflation and deflation of lungs

Lungs: Defending Airways

Let'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.

One Year Anniversary: It Takes a Rare Community

May 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 just that – create a forum for our nano-rare community.To celebrate one year of the Patient Empowerment Program, we compiled clips from previous interviews to form a special podcast episode centered around “community” and it really does take a “rare” community to do what we do.

Coming Together for the Nano-rare Patient

This 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, Stan has a conversation with Dr. John Maraganore about John’s past, their former rivalry, and the optimism shared between the two with respect to a better future for nano-rare patients.On This Episode We Discuss:- Being a dream merchant and driving a dream into a real therapeutic platform- Founding of Regulus and the synergy between Ionis and Alnylam throughout the years- What happens when two very competitive CEO-scientists have competing drugs- Overcoming their differences- Giving hope to a patient and their family with nano-rare diseases is powerful- Saving the world one life at a time- Bringing ASO and RNAi technologies together to collaboratively help nano-rare patients- A sustainable non-profit model?- Hope – a powerful thing to lose and an important thing to recover