One Year Anniversary: It Takes a Rare Community

May 17, 2023


Celebrating one year of the Patient Empowerment Program podcast!

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.

On This Episode We Discuss:

Watch on YouTube:

Francis Sessions Cole, III, M.D., is a neonatologist, the Park J. White M.D. Professor of Pediatrics, and Professor of Cell Biology and Physiology at Washington University in Saint Louis (WUSTL). During his tenure, Dr. Cole has served as Executive Vice Chair of the Department of Pediatrics, Assistant Vice Chancellor for Children’s Health, and Chief of the Division of Newborn Medicine at WUSL School of Medicine and Chief Medical Officer at St. Louis Children’s Hospital. Dr. Cole has also served as the Principal Investigator for the Undiagnosed Diseases Network Clinical Site at Washington University School of Medicine. He received his B.A. from Amherst College and M.D. from the Yale University School of Medicine. In 2020, Dr. Cole was awarded the Peter H. Raven Lifetime Achievement Award from The Academy of Science of St. Louis for his over 35-year career in service of science.

To learn more about the Undiagnosed Diseases Network, visit

Luke Rosen is the co-founder and board chair of KIF1A.ORG, a rare disease community advocate, former actor on film and television, firefighter in the Sag Harbor Fire Department, and father to Susannah. If you want to learn more about KIF1A and the organization Luke and his wife, Sally, founded visit You can follow Luke on Twitter @lukebrosen.

Wendy Chung, M.D., Ph.D., is the Kennedy family professor of pediatrics in medicine and chief of the division of clinical genetics in the department of pediatrics at Columbia University Medical Center, medical director of Columbia Genetic Counseling Graduate program, director of the clinical cancer genetics program at Columbia, director of the Pediatric Neuromuscular Network Molecular Core and the New York Obesity Center Molecular Genetics Core. Dr. Chung is a ‘Partner in Excellence’ — a collaboration with Columbia University Irving Medical Center and the n-Lorem Foundation focused on providing nano-rare patients with the highest quality healthcare and treatment. Check out all the great work from Dr. Wendy Chung and her lab at Columbia by visiting

Andy Mehrotra is the Founder and CEO of Unipr, and he holds an MBA from AGSM in UNSW, Australia, and a Master of Health, Sciences, and Technology from MIT and Harvard Medical School.

Unipr is an AI-based project data lake and predictive intelligence platform to accelerate research, development, and commercialization workflows. Unipr integrates with in-use tools to unify data from projects in various functions, phases, and stages in one place to help leaders visualize the real-time impact of progress and problems across interrelated programs. Unipr gives business executives the predictive power to foresee the future impact of strategies, improve the cross-talk among functional groups, and raise decision-making rigor and discipline across teams.

To learn more about Unipr, visit 

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.

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.

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

John Maraganore, Ph.D., is co-chair of the n-Lorem Advisory Council. He was the founding CEO of Alnylam where he built and led the company from early platform research on RNA interference (RNAi) through global approval and commercialization of four RNAi therapeutic medicines including ONPATTRO®, GIVLAARI®, and OXLUMO®, commercialized by Alnylam, and Leqvio®, commercialized by Novartis. He continues to serve on the Alnylam Scientific Advisory Board. Prior to Alnylam, Dr. Maraganore served as an officer and a member of the management team for Millennium Pharmaceuticals, Inc., most recently as senior vice president, strategic product development. Before Millennium, he served as director of molecular biology and director of market and business development at Biogen, Inc. At Biogen, Maraganore invented and led the discovery and development of ANGIOMAX® (bivalirudin) for injection. Prior to Biogen, Dr. Maraganore was a scientist at ZymoGenetics, Inc., and the Upjohn Company. Dr. Maraganore received his Ph.D. in biochemistry and molecular biology at the University of Chicago. He is a member of the board of Agios Pharmaceuticals, Beam Therapeutics, Kymera Therapeutics, ProKidney Corp, And Takeda Pharmaceuticals. He is on the board of the Biotechnology Innovation Organization (BIO), where he was chair from 2017-2019. Maraganore also serves as a venture partner with Atlas Ventures and Arch Ventures, and is an advisor with Blackstone Life Sciences and RTW Investments. If you want to learn more about Alnylam, visit You can follow John on Twitter @JMaraganore.

Sonja is the mother of Anna, a young German, who developed a nano-rare form of ALS (FUS P525L). Sonja is a rare disease advocate alongside her job at Vectis Consulting, where she works as an expert in organizational development, coaching, and leadership, conflict, and communication training, as her time permits. To learn more about Sonja, visit

Neil Shneider, M.D., Ph.D., serves as the Claire Tow Associate Professor of Motor Neuron Disorders and the Director of the Eleanor and Lou Gehrig ALS Center at Columbia University. He is an investigator in the Center for Motor Neuron Biology and Disease where his lab focuses on the study of models and mechanisms of ALS and the discovery and development of novel therapeutics for ALS and related disorders. Dr. Shneider worked with Ionis Pharmaceuticals to develop ION363 (Jacifusen), an anti-sense oligonucleotide (ASO) for ALS patients with rare mutations in the FUsed in Sarcoma (FUS) gene.

In partnership with n-Lorem, he founded Silence ALS, an initiative to develop ASOs for ALS patients with nano-rare, pathogenic mutations in ALS genes.  Dr. Shneider is co-chair of the Translating Fundamental Research into Potential ALS Therapies Working Group for the NIH ALS Strategic Planning Workshop.

You can keep up with Neil and his teams work at the Eleanor and Lou Gehrig ALS Center on Instagram @ and Facebook: Eleanor and Lou Gehrig ALS Center at Columbia University

Manish Raisinghani, M.B.B.S., Ph.D., is CEO of Target ALS Foundation. Manish has led the foundation since its founding in 2013 and grown it into a significant research accelerator for ALS through a collaborative approach that bring together academia, pharma/biotech, venture capital and other non-profits to work together. For more information on Target ALS, visit

Daniel L. Doctoroff stepped down as Chairman and CEO of Sidewalk Labs, Alphabet’s pioneering urban innovation company, in late 2021 upon being diagnosed with ALS. Prior to Sidewalk, Dan was CEO of Bloomberg L.P. Before Bloomberg, he served as Deputy Mayor for Economic Development and Rebuilding for the City of New York, where he led the city’s dramatic economic resurgence after 9/11. His memoir-manifesto, Greater than Ever: New York’s Big Comeback, was named by The Economist as one of the four essential books to understand New York City.

Before joining the Bloomberg Administration, Dan was Managing Partner of investment firm Oak Hill Partners. While there he founded NYC2012, New York’s Olympic bid. He is a founding chair of The Shed, an innovative cultural institution on Manhattan’s Far West Side.

Jamie Macdonald is Chief Executive Officer of Parexel. He has more than 25 years of experience in leading global biopharmaceutical services companies.

Prior to joining Parexel, Jamie served as Chief Executive Officer of INC Research, now known as Syneos Health, from January 2013 through September 2016, where he led the company through a successful Initial Public Offering in 2014. He also served as INC’s Chief Operating Officer from July 2011 through December 2012, and previously held several leadership positions in the biopharmaceutical services industry, including Senior Vice President and Head of Global Project Management at Quintiles, now known as IQVIA. Prior to this, he held various senior operational and finance roles at Quintiles. He has previously served on the Board of Directors for the Association of Clinical Research Organizations (ACRO) and as its Chairman in 2015. Jamie’s recent experience also includes serving as Chairman of the Board for Certara, a drug development consultancy with solutions spanning discovery, preclinical and clinical drug development, from 2017 to 2018.

Jamie began his career in the pharmaceutical industry with Syntex Corporation (acquired by Roche Holdings, Inc.). A native of Scotland, he holds a B.A. in Economics from Heriot-Watt University in Edinburgh, Scotland and is a qualified Chartered Management Accountant (ACMA).

Visit Parexel on LinkedIn

Dr. Joseph Gleeson is a Rady professor of neuroscience and pediatrics at UCSD, the director of neuroscience at Rady Children’s Institute, and n-Lorem’s Chief Medical Officer. Check out the exciting research and recent publications from Dr. Gleeson and his lab, including the mutation-directed medicine publication referred to in the podcast (Paper). You can follow Dr. Gleeson on Twitter @joglesson_ucsd.

Wendy Erler is the vice president and global head of patient experience, advocacy, and patient insights for Alexion Astra Zeneca Rare Disease, as well as a board member for the Huntington’s Disease Society of America, the Jett Foundation, and Rare-X. You can find Wendy on LinkedIn:


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.

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Pursuing Diagnosis and Sequencing

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