The Beginner's Guide to the Rare Disease Industry
November 23, 2021
Cheyanne Perry Suarez
'We get asked all the time, “What should I read or watch if I want to learn more about rare disease drug development and the rare disease patient experience?” Here’s our answer!'
Books: Patient Experience
Rare Like Us: From Losing My Dad to Finding Myself in a Family Plagued By Genetic Disease by Taylor Kane
Rare Like Us confronts the uncertainty that comes with chronic illness. Riddled with grief after losing her father to a rare genetic condition, author Taylor Kane learns she carries the same mutation and may develop similar symptoms in the future. Her book documents the journey of living life to the fullest while also harboring fear for what could be her reality.
Chronically Empowered by ImagineWe Publishers
Chronically Empowered is a compilation of memoirs from chronic illness sufferers across the globe. Each section is divided into nine themes with corresponding stories: resilience, capability, power, deserving, self-worth, ever-evolving, strength, determination, warrior. These patients openly share the obstacles they have faced during their diagnostic journeys and beyond.
Chasing My Cure: A Doctor's Race to Turn Hope into Action; A Memoir by David Fajgenbaum
Former Georgetown quarterback, David Fajgenbaum, was diagnosed with Castleman disease and then failed the only available treatment of that time. Rather than surrendering his fate to scientists who were unlikely to discover a cure in his lifetime, he took matters into his own hands. By studying diligently, he applied his research and his personal experience to create a successful treatment for the disease. Chasing My Cure is proof of what happens when the roles of doctor and patient collide.
Books: Rare Disease Drug Development
Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever by Bijal P. Trivedi
Breath from Salt is told from the perspectives of patients, families, physicians, scientists, and philanthropists directly impacted by Cystic Fibrosis—a diagnosis affecting thousands of Americans. Once deemed incurable, non-invasive treatments targeting the genetic cause of CF become possible due to a partnership with a biotech company. Breath from Salt is a must-read for any advocate and drug developer trying to bring a treatment for their target condition to market.
The Billion-Dollar Molecule AND The Antidote: Inside the World of New Pharma by Barry Werth
In Berry Werth’s The Billion-Dollar Molecule and The Antidote, readers learn the intricacies involved in beginning a startup biotechnology company like Vertex, which developed a drug that treats the virus that causes AIDS.
Genentech: The Beginnings of Biotech by Sally Smith Hughes
Genentech pursues the origin of the California-based genetic engineering company known as Genentech, Inc. The book describes the journey of Genentech from a fledgling startup to a revolutionary company that pioneered the biotech industry.
Conscience and Courage: How Visionary CEO Henri Termeer Built a Biotech Giant and Pioneered the Rare Disease Industry by John Hawkins
Henri Termeer spent 26 years as the CEO of Genzyme. During his career, he developed the first patient-centered approach for drug development. Conscience and Courage delves into his legacy and the influence he has had on patients with diseases so rare that most companies do not consider it worth the investment to advance treatments.
Orphan: The Quest to Save Children with Rare Genetic Disorders by Philip Reilly
There are several thousand rare genetic conditions that affect children. Phenylketonuria, sickle cell anemia, dystrophic epidermolysis bullosa, X-linked hypohidrotic ectodermal dysplasia, Friedreich's ataxia—these diagnoses only scratch the surface of the number of rare genetic diseases that affect children. Orphan contains excerpts from physicians, scientists, and parents who care for patients with rare diseases. Written by Third Rock Ventures veteran Philip Reilly, the book covers all aspects of drug development, from scientific research to the experiences of patients undergoing clinical trials and is a must-read for up-and-coming drug developers.
Mendelspod is a podcast of all things science! With episodes such as Tumor Evolution in Context with Christina Curtis and The History of mRNA Vaccines with Elie Dolgin, the founders of Mendelspod (Theral Timpson and Ayanna Monteverdi) seek to advance life science research.
Readout Loud is STAT’s weekly biotech podcast which addresses the latest noteworthy events of the industry. It’s the easiest way to stay in touch with the biotech industry on a weekly basis.
SynGAP1: 10 Minute Updates With Mike Graglia
SYNGAP1 is a rare genetic disorder characterized by intellectual disability, autism spectrum disorder, frequent seizures, and delays in motor skills and speech. The SynGAP 10 Podcast is a resource belonging to the SYNGAP1 Research Fund. Every week they release a ten minute episode related to SYNGAP1 and growing the community.
Energy In Action Podcast
The Energy in Action Podcast is supported by Mito Action. It highlights noteworthy conversations with researchers and thought leaders in the mitochondrial disease communities, as well as interactions with patients and families affected by mitochondrial disease.
The Mito Podcast
The Mito Podcast is hosted by two mothers whose sons both have mitochondrial disease—a condition occurring when mitochondria cannot produce enough energy for vital organs to function. The duo interview prominent figures in the mitochondrial disease community ranging from genetic counselors to other families devastated by the disease. As mothers, their outlook on a child’s illness is invaluable, as they deal with the disease day in and day out and navigate the world of physicians and scary symptoms.
Once Upon A Gene - Rare Disease Podcast
Inspired by her son, Ford, who was diagnosed with a rare genetic condition called CTNNB1 syndrome, Effie Parks created the Once Upon A Gene podcast to advocate for and spread awareness of rare diseases. Each episode includes a conversation about living with a rare disease or how a guest influences the rare disease community.
Check out the episode featuring Lukas Lange, the founder and CEO of Probably Genetic.
TV Shows and Movies
Netflix’s Diagnosis is a 2019 documentary in which Dr. Lisa Sanders crowdsources diagnoses for patients with rare illnesses through her New York Times Magazine column. These patients have often previously traveled to the most prestigious institutions in search of a diagnosis to no avail. The relief patients and their families experience when they finally have a diagnosis is inspiring to further successful work in the diagnosis and the development of treatments for rare diseases.
Brain on Fire
In the film Brain on Fire airing on Netflix, Susannah Cahalan is a New York journalist who presents with seizures, auditory hallucinations, and memory loss. After being repeatedly misdiagnosed, she fears for her life as medical professionals fail to identify the root cause of her symptoms. Brain on Fire is enlightening for anyone interested in learning more about rare diseases because the film portrays the long, arduous diagnostic journey the majority of patients endure.
Jennifer Brea appears to have the perfect life until she is afflicted with a mystery illness. The former Harvard Ph.D. student is suddenly bedridden months before her wedding. Doctors dismiss her condition, myalgic encephalomyelitis (M.E.), claiming her illness is psychological. Unrest captures the loneliness of chronic illness and how connecting with others through social media provides solace during severe illness.
Probably Genetic is a company that offers affordable and accessible genetic sequencing for patients with undiagnosed symptoms. The Probably Genetic Blog features articles on rare diseases, research, and how partners can benefit from our services. Some examples of popular posts include Why experts recommend genetic testing in groups of 3 and What It’s Like to Be an Undiagnosed Rare Disease Patient.
Patient and scientist Lisa Klimas educates people about the orphan disease, Mastocytosis, and other mast cell disorders on her blog, Mast Attack.
At the young age of 27, Sonia Vallabh tested positive for a mutation (i.e., PRNP D178N) that causes genetic prion disease. At the Broad Institute of MIT and Harvard, Sonia and her husband, Eric, develop treatment to prevent and cure genetic prion disease. Cure FFI, specifically posts such as How pharmaceutical industry financial modelers think about your rare disease, chronicle the couple’s mission.
The acronym FAST stands for Foundation For Angelman Syndrome Therapeutics. The YouTube channel discusses Angelman Syndrome; however, the information is a relevant biotech resource because it includes speakers from leading companies like Ultragenyx which are developing treatments for rare conditions. 2019 FAST Science Summit on Angelman Syndrome - Keynote, Dr. Emil Kakkis, Ultragenyx Pharmaceutical is a great video to start with!
EveryLife Foundation for Rare Diseases
The Everylife Foundation for Rare Diseases is a non-profit organization that aims to advocate for and empower patients with rare diseases. Check out the videos below:
Don't forget to share any suggestions you may have!
Cheyanne is the patient community manager at Probably Genetic. She uses her own experience of living with a rare genetic condition in her patient advocacy work. After graduating with her degree in psychology, she is especially interested in the biological processes that connect physical illness and mental health.