Rare Diseases

0:03 Calarrogus shark media. Hi. I'm Mark Ellison and today's theme is Rare Disease Day, Medical Breakthroughs, healthcare heroes and scientific advances. Question one. Rare Disease Day was designed to symbolize scarcity by landing on the calendar's rarest date. So in leap years on what date is it observed? Question two? Which landmark US law passed in nineteen eighty three transformed rare disease treatment development by offering incentives like seven years of market exclusivity, tax credits, and fee waivers to drug makers.

0:44 Question three. In twenty nineteen, the FDA approved a one time gene therapy that delivers a working SMN one gene to infants with a devastating neuromuscular disorder. Which rare disease does this treatment target? Question four. Cystic fibrosis care was revolutionized in twenty nineteen by a three medicine CFTR modulator that dramatically improved lung function for many patients. What is the brand name of this breakthrough combination therapy? Question five? Which patient advocate founded the National Organization for Rare Disorders NORD and played a pivotal role in passing the Orphan Drug Act, giving a voice to families facing rare conditions.

1:36 We'll be right back with these answers after this break. Welcome back. Question one, on what date is Rare Disease Day observed in leap years? Answer February twenty ninth. Launched by EUROTUS in two thousand and eight, Rare Disease Day uses February twenty ninth to highlight the rarity of these conditions. In non leap years. It's observed on February twenty eight. The day raises global awareness for the roughly three hundred million people living with rare diseases. Question two What nineteen eighty three US law spurred rare disease drug development? Answer? The Orphan Drug Act. The Orphan Drug Act jump started innovation for conditions affecting fewer than two hundred thousand Americans.

2:19 With advocacy from NORD and others, it helped lead to hundreds of approved therapies for previously neglected diseases. Question three. Which disease is treated by the gene therapy ZOLGENZMA. Answer spinal muscular atrophy SMA on asemogene abaparvavec ZOLGENZMA uses an AAV nine vector to provide a functional SMN one gene, helping preserve motor neurons. It marked a major breakthrough for SMA, a leading genetic cause of infant mortality. Question four, What is the name of the triple CFTR modulator approved in twenty nineteen? Answer trikafta trikafta alexicaft slash tesacaft slash ivocaft targets the defective CFTR protein, especially patients with the common F five hundred eight Dell mutation. It has significantly improved quality of life and outcomes for many with this rare genetic disease. Question five. Who founded NORD and champion the Orphan Drug Act? Answer? Abbi Myers. Abby Myers mobilized patients and families to push for policy change, leading to the Orphan Drug Act's passage. NORD continues to support research, awareness, and patient services across thousands of rare diseases. That concludes today's five daily Trivia questions. I'm Mark Ellison, and today's questions were crafted with the help of AI technology. See you tomorrow.