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Global Genes is a leading rare disease advocacy organization with global reach to the worldwide rare community of patients, caregivers, advocates and clinical partners. Our mission is to eliminate the challenges of rare disease.

The National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service

FEBRUARY 20, 2015-A diverse group of experts from academia, industry and advocacy convened by a Georgetown researcher is offering recommendations to the National Institutes of Health (NIH) regarding how to address the overreliance of male cells and animals used in preclinical studies. The recommendations come as the federal research institution works to increase the inclusion of female animal models and achieve a balance in the use of male and female cells and animals in lab research.

This case study is designed to teach basic concepts of genetics by focusing on a rare disease, pseudoxanthoma elasticum (PXE).  Chromosome 16 is the narrator at the beginning of the case and introduces students to genes, chromosomes and mutations. The focus then shifts to the patient and his mother as she finds out about her son's disease and her subsequent efforts to connect with patient advocacy groups for support. The case concludes with students watching a TED talk given by Sharon Terry, the real-life mother on whom this story is loosely based, so that students can connect on an emotional and human level with someone who has intimate experience as a parent of children with a rare genetic disease. The case is suitable for high school general biology classes, but it can also be used by biology major or non-major undergraduates in a lower-division biology class, or in any lower-division non-major class focused on human disease.