Patient Empowerment Program: A Rare Disease Podcast

Cardiovascular System Part 3: (The Pipes) Arteries and Veins

Drip... Drip. When your pipes are leaking, it's never a good thing. Who you gon’ call, YOUR DOCTOR! The next lesson in our ‘pipe’-line focuses on the pipes of the cardiovascular system - the Arteries and Veins. Learn about the arterial and venous systems that manage blood flows with differing pressures, high and low. However, both systems have mechanisms that control blood flow under unique conditions to supply our tissues with nutrients, remove waste, and keep us alive. In the event of a busted pipe, know that a plumber can’t help you. Call a doctor, because the pipes in your body are much more complex and interactive with the materials inside than the ones in your home.

CROs and Their Role for Nano-rare

This episode is sponsored by our partner, Parexel, one of the world’s largest clinical research organizations (CROs) providing the full range of Phase I to IV clinical development services. Parexel provides clinical operations, real-world data solutions, medical and regulatory expertise and innovative clinical research tools that significantly enhance and streamline n-Lorem’s therapeutic development efforts. Their depth of industry knowledge and strong track record gained over the past 40 years is moving the industry forward and advancing clinical research in healthcare’s most complex areas, like rare disease. Jamie Macdonald, CEO of Parexel, joins Stan to discuss the moment he realized his desire to make a difference, Parexel’s role in clinical trials and their partnership with n-Lorem aimed to serve patients.

Cardiovascular System Part 2B: (The Pump) Heart Diseases

In this episode, Stan continues his lecture series on organs, concluding his lesson on the pump of the cardiovascular system, the Heart. Organs are individual tissue components that help meet the needs of an entire organism (that's you). The heart is one of the most important, complex, and fascinating organs in your body - and we couldn't squeeze it into just one episode! Learn all about heart diseases in the final installment of this two-part series.

Cardiovascular System Part 2A: (The Pump) Heart Anatomy

In this episode, Stan continues his lecture series on organs, focusing on the pump of the cardiovascular system – the Heart. Organs are individual tissue components that help meet the needs of an entire organism (that’s you). The heart is one of the most important, complex, and fascinating organs in your body. Learn all about the heart that’s working so hard for you in the first of a two-part series on this amazing organ.

Shifting Mindsets to Expedite Rare Treatments

This episode is sponsored by our partner, Ultragenyx, a biopharmaceutical company focused on the development and commercialization of novel therapies for serious rare and ultra-rare genetic diseases! Ultragenyx has been a loyal and proud supporter of n-Lorem and our patients. Stan talks with a rare disease treatment advocate and the CEO, President and Founder of Ultragenyx, Emil Kakkis, MD, PhD, about why he has dedicated his career to supporting the rare disease community, what led him to establish the EveryLife Foundation, and the origins of Ultragenyx. Because of the debilitating and often quick progression of rare disease patients, Emil believes that regulatory agencies should modify the way they approach clinical trials for these individuals. Far too often, policies leave patients stuck waiting and hoping for treatment while their symptoms worsen, causing permanent damage. Do you have a question that you’d like to ask Stan Crooke? Stan will be taking questions directly from you and other podcast listeners and dedicating an entire episode towards answering your questions! To submit a question for the upcoming Q&A episode, email podcast@nlorem.org with the subject line labeled “podcast question”. If you wish to be identified, mention your name in the email. If not, we will keep your submission anonymous. We can't wait to hear from you!

Cardiovascular System Part 1: Blood

Focusing on the cardiovascular system, Stan starts a new lecture series on organs. No, not the state in the Pacific Northwest and definitely not the large piped musical keyboard you’d find in a church or a ballpark. We’re talking about the collection of tissues within the body that perform vital functions for life. Organs! Part 1 focuses on that warm red liquid inside of you, blood! Now blood is not technically an organ. But, according to Stan, it should be. Dr. Crooke covers how the blood cycle delivers nutrients and oxygen to other organs through the hemoglobin protein, the factors and checklist of blood clotting, and discusses a few of the countless mutations within blood cells that cause both common and rare diseases.

Coming Together for the Nano-rare Patient

When Stan Crooke, M.D., Ph.D., ran Ionis and John Maraganore, Ph.D., 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 experimental personalized medicines to the rarest of rare disease patients (nano-rare) using the antisense oligonucleotide (ASO) technology he developed at Ionis. In this episode, Stan speaks with Dr. John Maraganore about John’s past, their former rivalry, and the optimism shared between the two with respect to the future of n-Lorem.Do you have a question that you’d like to ask Stan Crooke? Stan will be taking questions directly from you and other podcast listeners and dedicating an entire episode towards answering your questions! To submit a question for the upcoming Q&A episode, email podcast@nlorem.org with the subject line labeled “podcast question”. If you wish to be identified, mention your name in the email. If not, we will keep your submission anonymous. We cannot wait to hear from you!

Antisense (How We Do It at n-Lorem)

We’d like to thank our sponsor, Argonaut Manufacturing Services. Argonaut provides contract manufacturing and sterile fill-finish services for biopharmaceutical, diagnostics, and life science organizations. Argonaut’s expertise in sterile fill-finish is the last step in the complex process of providing personalized antisense oligonucleotide (ASO) medicines to nano-rare patients.When considering if the technology he led the creation of could be a viable way to develop a drug for a single patient, addressing their specific mutation, Dr. Crooke felt that he had to try, patients were dying without access to any treatment because they were just too rare. So began n-Lorem. As expected, developing an optimal ASO for a single patient is not an easy or simple process. Quality must lead every step and only optimal ASOs can reach patients.Learn our science and processes behind the discovery and development of personalized ASO medicines for each of our nano-rare patients. n-Lorem’s mission is to provide hope and potential help to nano-rare patients – for free, for life; a mission that was impossible just a few years ago. This enables the non-profit approach that we believe is the only way to address the needs of nano-rare patients. Thanks to our partners like Argonaut, we are able to provide hope and potential help to patients today and tomorrow.

Anna’s Story of Hope and Help

In this episode, Stan talks with Sonja and Dr. Neil Shneider, associate professor of motor neuron disorders at Columbia Medical School, about Sonja’s daughter, Anna. She is 17 years old and suffers an aggressive, fatal form of ALS. 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.

Why ASO Technology

What makes antisense oligonucleotides (ASOs) so special? Let’s first understand what an oligonucleotide is. An oligonucleotide is a short strand of synthetic DNA, or a nucleic-acid chain, usually consisting of up to approximately 20 nucleotides read from left to right. n-Lorem’s ASO technology is based on thirty years of innovation and investment to make ASOs drugs with optimal qualities. This technology is also uniquely beneficial for nano-rare patients due to its specificity and broad utility to address the myriad of mutations that nano-rare patients present. Each a unique program with a unique challenge.Compared to other drug discovery platforms, discovering and developing an optimal ASO is inexpensive, quick and can be used to treat diseases that are caused by many different types of gene mutations. ASOs are designed to bind precisely with RNA, modifying the process of creating a disease-causing protein. Thereby making ASOs highly specific and a powerful drug discovery technology for nano-rare patients, who need a therapeutic approach that targets their specific gene mutation.