New European Project Aims to Improve Rare Disease Diagnosis and Care: Insights from the RARE-Impact Initiative

A recent article published in the Orphanet Journal of Rare Diseases highlights the launch and goals of RARE-Impact, a new European project designed to enhance the diagnosis, care, and overall…

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After a Nationwide Outbreak of EV-D68 in 2014, the CDC Suggests Caution When Treating Children for Respiratory Disease

In 2014 the U.S. experienced a nationwide outbreak of EV-D68, raising concerns about children’s respiratory health. Acute flaccid myelitis disease (AFM) also spiked. EV-D68 is defined as a group of…

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Dancing Through Diagnosis: Alnylam’s Givlaari Campaign Puts Rare Disease in the Spotlight

Alnylam Pharmaceuticals has launched a unique promotional campaign for Givlaari, its treatment for acute hepatic porphyria (AHP), that swaps the usual clinical narratives for something more artistic: dance. As reported…

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World’s First Personalized Gene-Editing Therapy Offers Hope to Infant with Rare Disease

In a groundbreaking medical achievement, physicians have administered the world’s first personalized gene-editing therapy to an infant suffering from a rare and fatal genetic disorder. The innovative treatment, described at…

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An Unexpected Liver Transplant – Part Three
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An Unexpected Liver Transplant – Part Three

Part 3 - Our Post-Transplant Journey (the first year) Continued from Part 2 From the nurses and doctors to the therapists and social workers and everybody else involved in Becky’s…

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The Value of Genetic Counselors: Why Their Role is Essential in Healthcare
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The Value of Genetic Counselors: Why Their Role is Essential in Healthcare

This article was written by and shared with permission from Shannon Wieloch, MS. Shannon is a certified genetic counselor and patient advocate for the Aicardi-Goutiere Syndrome Advocacy Association and founder of Stork Genetics.…

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