Researchers have used a new imaging technique to differentiate retinal lesions caused by Vitelliform Macular Dystrophy(VMD) by genetic variants. Differences in the density of photoreceptors and RPE cells were observed depending on the type of genetic variants. VMD is a rare eye disease, and the age of onset and symptoms differ depending on the type of variants. It is expected that this technology will contribute to the development of therapeutic agents by increasing the understanding of VMD.
With the expansion of newborn screening tests for diagnosing Spinal Muscular Atrophy(SMA) in Europe, Biogen has created an advertisement to raise awareness of SMA in Spain. Biogen has partnered with SMA advocacy group FundAME, working with VMLY&R Health Spain to raise awareness of rare diseases.
Medidata's Pete Buckman proposed a way to improve the clinical development process for rare disease therapeutics at Forbes. He wrote regulatory improvement, technological innovation, and close collaboration between regulators, industry and patients are important.
In a rare disease drug development webinar hosted by the National Organization for Rare Disorders(NORD), Kerry Jo, Lee, MD, associate director in the FDA said that the role of patients in developing treatments is increasing. FDA has developed and distributed guidance documents to enhance the effectiveness of patient-focused drug development (PFDD), and has published the guidance three times since 2020.