Shifting Mindsets to Expedite Rare Treatments

November 2, 2022


What can we do right now to help rare diseases get treated?

We would like to thank our sponsor for this episode, Ultragenyx, a biopharmaceutical company focused on the development and commercialization of novel therapies for serious-rare and ultra-rare genetic diseases. Ultragenyx is a loyal and proud supporter of n-Lorem and our nano-rare patients.

In this episode, Stan talks with rare disease treatment advocate, and CEO, president and founder of Ultragenyx, Dr. Emil Kakkis. These two rare disease advocates discuss Emil’s trajectory to rare disease work and why he chose to dedicate his career to supporting the rare disease community. Emil’s commitment to rare disease is evident in the foundation he established, the EveryLife Foundation for Rare Diseases, that is leading the charge for impactful, science-driven legislation and policy to advance the equitable development of and access to lifesaving diagnoses, treatments, and cures.

On This Episode We Discuss:

  • Kakkis’ family of physicians
  • How his interests shifted to medical genetics
  • Pioneering laronidase enzyme replacement therapy for Mucopolysaccharidosis I (MPS I)
  • Initiating change at BioMarin
  • The EveryLife Foundation for Rare Diseases
  • Giving patients a voice
  • Ultragenyx Bootcamp
  • Ultragenyx and Dr. Kakkis’ support for n-Lorem
  • Limitations of the traditional drug development path

Watch on YouTube:

Stan speaks with the CEO, president and founder of Ultragenyx, Dr. Emil Kakkis. After graduating from Pomona College and receiving his M.D. and Ph.D. from the UCLA Medical Science Program, Dr. Kakkis began his career as an academic physician at the Harbor-UCLA Medical Center where he led the development of laronidase enzyme replacement therapy for mucopolysaccharidosis I (MPS I).

Dr. Kakkis is a longtime advocate for rare disease patients. After experiencing the significant obstacles of drug development for rare diseases and watching too many children wait for therapies while their diseases progressed, Emil decided to do more to support the rare disease community. He ultimately left his position at UCLA and moved to the Bay Area in 1998 to join the BioMarin team where he could advocate for rare disease patients from the inside of what was, at the time, a non-rare disease biotech company. There, he helped orient the company to focus on rare diseases by guiding the development and approval of three rare disease treatments (MPS I, MPS VI and PKU) and contributing to the development of four others (CLN2, MPSIVA, PKU, achondroplasia).

Dr. Kakkis left BioMarin to found the EveryLife Foundation for Rare Diseases, which is dedicated to the acceleration of biotech innovation for rare diseases and “curing the process” of the development of rare disease therapies through practical and scientifically sound improvements to develop strategies, regulatory policy, and law. EveryLife is building a rare disease community and enabling members to act and talk to regulators to achieve change in their disease area.

In 2011, Dr. Kakkis founded Ultragenyx, a biotech company focused exclusively on rare and ultra-rare genetic diseases. Ultragenyx aims to transform the lives of those living with rare and ultra-rare diseases and works to make the treatments they develop easily accessible to those who need them. Formed with the mentality of going above and beyond for the rare disease community every day, they support members every step of the way and take care of them before and after they’re approved for treatment. In addition to developing treatments, Ultragenyx serves the rare disease community by providing a free multi-day in person bootcamp where selected participants and rare disease foundations that are researching a treatment of their own can ask drug development questions, get trained by experts in the field, and build relationships with those in the rare community.

n-Lorem is pioneering a first of its kind non-profit model to provide personalized experimental ASO medicines to the most hopeless patient population (nano-rare) for free, for life. Ultragenyx and Dr. Kakkis chose to support n-Lorem because ASO medicines used to treat nano-rare can be developed with scale, low-cost, efficiency, and with quality at each step of the way. With the support of Ultragenyx, n-Lorem is providing an opportunity for a better life, renewed hope and brighter dreams, one patient, one family at a time.

Dr. Emil Kakkis is Chief Executive Officer, President and a Director of Ultragenyx. He founded Ultragenyx in 2010 to create a company that is uniquely built around a deep and meaningful engagement with patients and their caregivers to fully understand their needs. This includes designing a novel development model that fundamentally changed the established paradigms in clinical protocols, endpoints and analyses, as well as challenging traditional beliefs around commercialization and access to therapies for patients with rare and ultra-rare genetic diseases.

Dr. Kakkis began at the Harbor-UCLA Medical center where he was developing an enzyme replacement therapy for the rare disorder MPS I. He joined BioMarin in 1998 where he guided the development and approval of three treatments for rare diseases (MPS I, MPS VI and PKU) and contributed to the development of approved or development stage products for four other rare diseases (CLN2, MPSIVA, PKU, achondroplasia). He has worked to advance the cause of rare disease treatment through advocacy on policy issues by founding and supporting the EveryLife Foundation for Rare Diseases, a non-profit foundation dedicated to the acceleration of biotech innovation for rare diseases through practical and scientifically sound improvements to development strategies, regulatory policy and law.

Dr. Kakkis received the Life Science Leadership Pantheon award from California Life Sciences, a Lifetime Achievement Award from the National MPS Society, the Roscoe O. Brady Award for Innovation and Accomplishment from the WORLDSymposium, and BIO’s Henri Termeer Visionary Leadership award for this transformative work in rare diseases.

Dr. Kakkis serves on the Board of the EveryLife Foundation.

Dr. Kakkis graduated from Pomona College, magna cum laude, and received the Vaile prize for his biology research. He received combined M.D. and Ph.D. degrees from the UCLA Medical Scientist Program and received the Bogen Prize for his research upon graduation. He completed a pediatrics residency and a Medical Genetics Training Fellowship at Harbor-UCLA Medical Center, where he was an assistant professor of pediatrics and initiated the enzyme therapy program for MPS I. Dr. Kakkis was board certified in pediatrics and medical genetics.

If you want to learn more about Ultragenyx, the company Emil founded, visit


Hosted by: Dr. Stan Crooke.
Videographer: Jon Magnuson of Mighty One Productions.
Producers: Kim Butler, Colin Delaney, Kira Dineen, Jon Magnuson, Andrew Serrano and Amy Williford.

More from n-Lorem:

See what else we are up to on Twitter, Instagram, Facebook, Linked In, YouTube and our website, If you enjoy this episode, please rate and review us, as it helps others find our podcast. Questions/inquiries can be sent to [email protected].

Download Transcript:

To follow along with this interview, download the transcript below.


Listen to our next interview:

CROs and Their Role for Nano-rare with Jamie Macdonald

We cannot do
this alone

Together we are changing the world—
one patient at a time

We hope that you join us on this journey to discover, develop and provide individualized antisense medicines for free for life for nano-rare patients. The ultimate personalized medicine approach – for free, for life.

We need your support

Join us on our Corps of Discovery of the mind and heart. Help us bring hope and potential help to nano-rare patients today. For free, for life.

Follow us on social for updates on our latest efforts