In the EU, the need for improvement of related policies is being emphasized for the early diagnosis of rare diseases and the development of therapeutic agents. Rare diseases are one of the three main themes in the health sector of the Czech Presidency of the Council of EU. The author urged that the newborn screening program should be strengthened to increase early diagnosis and incentives to develop rare disease drugs.
3billion participated in ESHG 2022 held from June 11 to 14 in Vienna, Austria. At this conference, 3billion had a genetic data analysis session with customers in Europe and introduced the newly launched WGS (whole genome sequencing)-based rare disease genetic test to conference participants.
At ESHG, Australian researchers published their findings on the diagnostic efficacy of rWGS for rare diseases. Professor Zornitza Stark performed ultra-rapid WGS on 290 sick pediatric patients across Australia, with an average time to diagnosis fewer than 3 days and 136 diagnoses.
Oregon State University surveyed 1,128 patients with rare diseases and their parents, asking questions about their experiences with rare disease diagnoses, their health status, and their quality of life. Researchers say the ongoing education of medical professionals is paramount to reducing the problems faced by patients with rare diseases and their parents.
Rare disease pharmaceutical industry trendsIonis Pharmaceutical and AstraZeneca announced that they had succeeded in Phase 3 clinical trial of co-developing transthyretin amyloidosis treatment(eplontersen). However, the…
Rare disease pharmaceutical industry trendsUCLA researchers have published an animal study showing that guanidinoacetate methyltransferase deficiency (GAMT) can be treated through gene therapy. The researchers transferred…
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