Rare Disease News

Deborah Skolaski: 2019 Rare Impact Award Honoree

Published May 20, 2019 by NORD

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Houston native Deborah Skolaski is the loving grandmother of Cori, a seven year-old living with metachromatic leukodystrophy. MLD is a genetic disorder that affects the nerves, muscles and other organs, …

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Madison Shaw: 2019 Rare Impact Award Honoree

Published May 20, 2019 by NORD

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Living through a lengthy diagnostic odyssey is unfortunately very common for rare disease patients. Madison “Maddie” Shaw’s journey to diagnosis took place over an intense and frustrating two and a …

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Dr. Debra Regier: 2019 Rare Impact Award Honoree

Published May 20, 2019 by NORD

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Debra Regier, M.D., Ph.D. is the Director of Genetic and Genomic Education at Washington, DC’s Children’s National Medical Center, attending physician in genetics and metabolism and Primary Investigator (PI) for …

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Dr. Wendy Chung: 2019 Rare Impact Award Honoree

Published May 20, 2019 by NORD

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As a clinical and molecular geneticist, Wendy Chung, M.D., Ph.D. has been working with patients with rare genetic diseases and their families for the last 20 years. She is the …

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Donna Appell, R.N.: 2019 Rare Impact Award Honoree

Published May 20, 2019 by NORD

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When Donna Appell’s one-year-old daughter Ashley exhibited frequent and unexplainable bruising, Donna turned to her toddler’s pediatrician for answers. She was told that the bruising was “easier to see” because …

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NORD Releases Principles for Assessing Proposals Designed to Lower the Cost of Prescription Drugs in the United States

Published May 7, 2019 by NORD

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NORD developed key drug pricing principles with the needs of the rare disease community in mind.

NORD IAMRARE DHPS Patient Registry Launched

Published April 26, 2019 by NORD

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Yesterday, a NORD Member Organization and IAMRARE™ Registry Client, The DHPS Foundation, officially launched their patient registry, DHPS Patient Registry. NORD’s IAMRARE Registry Program was built to address the special needs of …

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Become a rare disease mythbuster during NORD’s Living Rare, Living Stronger Patient & Family Forum

Published April 18, 2019 by NORD

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The 2019 Living Rare, Living Stronger NORD Patient and Family Forum is a conference in which patients and caregivers can gain insights and practical tools for living their best lives …

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Living Rare, Living Stronger full agenda with speakers now available

Published April 9, 2019 by NORD

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The 2019 Living Rare, Living Stronger NORD Patient and Family Forum promises to be an unforgettable weekend for patients, families, medical professionals and students. Download the agenda now and register by April 26 to …

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Hear from NORD’s registry community

Published March 20, 2019 by NORD

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NORD IAMRARE Registry users share their thoughts on how their patient registries are benefiting their communities and how they are using the data.