It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Because the rare disease community needs allies to promote its interests in areas that include health parity, proper diagnoses, treatment access and affordability, the National Organization for Rare Disorders (NORD) is opening to the public videos of advocacy sessions from its forum. This previously exclusive, paid content is from…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Global Genes has opened its 8th annual RARE Compassion Program, an education initiative that connects medical students with rare disease patients and their families, including those with aromatic l-amino acid decarboxylase (AADC) deficiency. The program aims to fill training gaps across rare diseases to produce a more equitable…
A team led by scientists at PTC Therapeutics has calculated health utilities — quantitative values for assessing health — for aromatic l-amino acid decarboxylase (AADC) deficiency based on data from a survey conducted in France. The findings, in combination with earlier work done in the U.K., could be helpful…
The Critical Path Institute (C-Path) has announced a public-private partnership seeking to accelerate the development of safe and effective treatments for rare diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency. The partnership, called the Rare Disease Clinical Outcome Assessment (COA) Consortium, will attempt to identify scientifically sound ways to…
Centogene has launched CentoCloud, a cloud-based platform designed to allow decentralized analysis and interpretation of an individual’s genetic data, thereby providing fast diagnostic insights and medical reports. Reported to be powered by proven bioinformatic pipelines and the world’s largest rare disease-centric bio/databank, this software-as-a-service platform is expected to…
Global Genes, a worldwide non-profit, is seeking to support in-person meet-ups that provide access to educational resources and assistance for patients, caregivers, and advocates for rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency. Under the group’s 2022 RARE Meet-Ups Impact Grant program, U.S.-based support groups…
The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases. NORD is the U.S. sponsor for Rare Disease Day on Feb. 28. The annual awareness day spotlights approximately 7,000…
A trio of researchers in the U.K. has calculated health utilities for AADC deficiency, a quantitative measure of health value that will be useful for assessing the economic health value of future treatments. Results were published in the study “Eliciting health state utilities for Aromatic L-amino…
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