About

The intellectual position

The intersection of rare disease and ageing is not a metaphor. It is a mechanism.

For three decades, rare metabolic diseases have been treated as a separate category from common age-related conditions — a different science, a different commercial reality, a different set of patients. CortexBio was founded on the argument that this separation is wrong. The enzyme deficiencies driving conditions like Pompe disease, Fabry disease, and other lysosomal storage disorders are not unique aberrations — they are the same biological error that drives normal ageing, running on an accelerated timeline.

This means two things for drug development. First: rare metabolic disease is not a niche. It is a prototype. The therapeutic tools being built today for populations of a few thousand patients are the earliest versions of what will eventually treat the age-related decline of millions. Second: the researchers and companies who understand rare disease biology have a decades-long head start on the longevity question — if they recognise what they are sitting on.

About the author

CortexBio Insights publishes original research and analysis by Dr Dima Martini-Drew MD, a physician-scientist with 25 years of rare disease clinical development across Astellas (Early-Stage Medical Strategy Lead, Mitochondria and Rare Diseases), Abbott (Strategic Medical Director), and Genzyme Corporation (Global Medical Director, Nephrology, Endocrinology and Rare Diseases). Over that time, she led four enzyme replacement therapy programmes and worked directly with orphan drug regulatory pathways in Europe and North America.

The consultancy specialises in clinical development strategy, regulatory pathway navigation, and the science of rare disease — with a specific focus on the metabolic mechanisms that link orphan disorders to the biology of ageing.

Recognised in Global Healthcare Magazine's Biotech Trailblazers: Top Business Women Leaders, 2025.

What we publish

Pulse (Free) — Public analysis on rare disease, metabolic health, and the biology of ageing; access to all public posts; monthly newsletter. No card required.

Pro (£19/mo or £190/yr) — everything in Pulse, plus: deep-dive analyses; metabolism principles at clinical level; framework insights at summary level; 48-hour early access to white papers and book chapters; member discussion thread.

Insider (£49/mo or £490/yr) — everything in Pro, plus: full analytical framework access with clinical protocols and applications; quarterly drug repurposing and patent intelligence reports; 1-week early access to white papers with draft review invitations; member discussion thread; monthly live Ask Dima sessions (small group, recorded).

The wider thesis

The founding argument of CortexBio — that ageing should be understood as a metabolic disorder, related to but accelerated beyond the enzyme deficiencies of rare disease — is the subject of a book in progress. Major publishers declined it on the basis that there were no comparable titles. That was taken as a market map: a thesis with no comparable titles is either wrong or genuinely new.

The research published here represents that argument in instalments. Each paper tests a piece of it against published evidence.