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Jul. 31, 2019

TOPIC: Press Releases, Featured News

2019 NORD Rare Summit to Feature Caregivers Who Have Moved from Inspiration to Action

Posted by Lisa Sencen

Washington, DC, July 31, 2019—The National Organization for Rare Disorders (NORD)®, the leading independent nonprofit organization representing the over 25 million Americans with rare diseases, has announced the Patient/Caregiver Opening Address speakers for the 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit, to be held October 21-22 in Washington, DC.

The NORD Rare Summit is the largest and most innovative multi-stakeholder event of its kind, drawing together more than 800 participants from across the rare disease community—including patient advocacy groups, government, industry and academia—to discuss the most current and urgent topics related to rare diseases and orphan products. “The Time is Now” is the theme for 2019, which will be examined from the perspectives of a diverse group of thought leaders.

Each year, the Summit begins with a Patient/Caregiver Opening Address to underscore that while the event includes the entire rare disease community, the focus is always on patients and how the larger rare community can work together to improve the lives of those affected by rare diseases. This year’s address will feature two speakers whose stories both illustrate the powerful ways in which families impacted by rare diseases are helping to drive progress in research, an increased understanding of diseases and the development of treatments.

Entitled “There Is No Time Like the Present – Inspiration to Action,” the session will feature Karen Pignet-Aiach and Terry Jo Bichell, PhD, two examples of family members who were inspired by the needs of their loved ones to acquire the education and skills necessary to advance research toward treatments for diseases that previously had none.

Karen Pignet-Aiach

Karen is Founder, CEO and Board Chair of Lysogene, a biopharmaceutical company focused on rare neurodegenerative diseases. She began her career as an audit specialist with Arthur Andersen and later established her own financial consulting business. However, in 2005 her daughter, Ornella, was diagnosed with Mucopolysaccharidosis (MPS) IIIA or Sanfilippo Syndrome A, which has no known cure and results in greatly reduced life expectancy. For a time, Karen focused on working with nonprofit organizations to connect with scientists and support research on this rare condition. In 2009, she founded Lysogene, a company which today has a gene therapy in development for MPS IIIA.

Terry Jo Bichell, PhD

Terry Jo was a practicing nurse midwife with a degree in public health teaching women how to breastfeed and care for their babies when her own son, Louie, was diagnosed with Angelman syndrome, a rare genetic disorder about which very little was known at the time. Ultimately, Terry Jo went back to school at Vanderbilt University with one goal in mind: to find a cure for Angelman syndrome. She earned a PhD and today plays an important role in Angelman syndrome research, serving as Director and Scientific Officer for the Angelman Biomarkers and Outcome Measures (ABOM) Alliance, a coalition of patient advocacy groups, clinicians, researchers and pharmaceutical companies studying Angelman syndrome. Terry Jo also serves as the Tennessee Volunteer Ambassador for NORD’s Rare Action Network (RAN), providing advocacy and education at the state level for all children and adults affected by rare disorders.

These impactful speakers will join the directors of three key U.S. Food and Drug Administration (FDA) divisions, the Center for Drug Evaluation and Research (CDER), the Center for Biologics Evaluation and Research (CBER) and the Center for Devices and Radiological Health (CDRH), as well as other leaders from National Institutes of Health (NIH), patient advocacy groups, industry and academia. The 2019 Rare Summit will also feature an expansive poster session; one-to-one networking opportunities; nine breakout sessions over two days; and a plethora of roundtable discussions.

“The pace of progress in rare diseases is accelerating, and it is clear that now is the time for driving innovation, advocacy, research and new therapies. This year we’ll be taking on timely topics such as the challenges of gene therapy, retaining treatment affordability while sustaining innovation, and fostering dialogue among payers, providers and patients,” said Peter L. Saltonstall, President and CEO of NORD. “The Rare Summit is a unique opportunity to learn from subject matter experts, network with your peers and hear directly from FDA and NIH leaders on their perspectives and current priorities.”

Sponsors of the 2019 NORD Rare Summit include Sanofi Genzyme, Eversana, Retrophin and Takeda. For a complete listing of the more than 95 speakers, panel discussions, lunch and learn groups and more, download the agenda. To register for the 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit, click here. Information about exhibiting and corporate sponsorship opportunities can be requested by clicking here. For more general information, visit


About the National Organization for Rare Disorders (NORD)®

The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of the more than 7,000 rare diseases, of which approximately 90% are still without an FDA-approved treatment or therapy. Rare diseases affect over 25 million Americans. More than half of those affected are children.

NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 35 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research and providing patient and family services for those who need them most. NORD is made strong together with over 275 disease-specific member organizations and their communities and collaborates with many other organizations on specific causes of importance to the rare disease patient community.