Diagnosis
4What is achondroplasia?
Plain-language primer on achondroplasia, why it is the most common skeletal dysplasia, and what the new therapy options can offer.
What is phenylketonuria?
Plain-language primer on phenylketonuria, why early diagnosis matters so much, and what the modern therapy options can offer.
What is spinal muscular atrophy?
Plain-language primer on SMA, why genetics drives the disease, and how the modern therapy options work.
What is hereditary angioedema?
Plain-language primer on hereditary angioedema, why it is different from allergy, and how modern therapy works.
Drug development
1Regulatory
2How orphan drug designation reshapes commercial planning across markets
Orphan drug designation is more than a marketing-exclusivity tag. It carries fee waivers, accelerated review pathways, market-exclusivity protection, and HTA-layer implications that shape commercial planning materially across markets.
How natural-history studies became regulatory currency for rare-disease approvals
In conditions where a randomized controlled trial is impractical or unethical, well-conducted natural-history studies have become the comparator of record for FDA submissions. The methodology, the patient-advocate organizations that often run these studies, and the regulator-sponsor dialogue have all matured into a recognizable framework.