What experience does Dr Dima Martini-Drew MD have in rare disease?

Dr Dima Martini-Drew MD has over 30 years of rare disease experience, including roles as Early-Stage Medical Strategy Lead for Mitochondria and Rare Diseases at Astellas, Strategic Medical Director at Abbott, and Global Medical Director of Nephrology, Endocrinology and Rare Diseases at Genzyme Corporation. She has directed the launch of four enzyme replacement therapy programmes and pioneered high-risk population testing for Fabry Disease. She is a founding member of the Critical Path Institute and was recognised as a Biotech Trailblazer by Global Healthcare Magazine in 2025.

Rare Disease Consultancy

Overview

CortexBio delivers specialised consulting services for organisations developing therapies for rare and ultra-rare diseases, providing strategic guidance throughout the development journey. Our approach combines scientific expertise with practical experience navigating the unique challenges of rare disease drug development.

Our Approach

We offer comprehensive support tailored to the specific needs of rare disease therapeutic development. Our services include:

· Rare Disease Strategy Development: Create comprehensive approaches that address scientific, clinical, regulatory, and commercial considerations unique to rare diseases

· Orphan Drug Designation Support: Navigate regulatory pathways and prepare compelling applications for orphan drug designation in multiple jurisdictions.

· Natural History Study Design: Develop robust natural history studies that characterise disease progression and inform clinical development.

· Rare Disease Registry Strategy: Design and implement disease registries that generate valuable long-term insights

Benefits

· Accelerated development timelines through optimised strategies

· Enhanced regulatory success through targeted approaches

· Improved patient identification and clinical trial recruitment

· Stronger value propositions for rare disease therapies

Why CortexBio

Our integrated view of rare diseases and ageing provides unique insights into disease mechanisms and therapeutic approaches. Dima Martini-Drew's extensive experience in rare disease development at companies like Genzyme and Astellas brings practical knowledge of successful development pathways and regulatory strategies.

Last updated: July 2026

Frequently Asked Questions

What does a rare disease consultancy do?
A rare disease consultancy provides strategic guidance to pharmaceutical and biotech companies developing treatments for rare and ultra-rare conditions. Services typically include drug development strategy, regulatory pathway design (including orphan drug designation support), natural history study design, patient advocacy engagement, and Target Product Profile development. CortexBio specialises in rare genetic and metabolic diseases, drawing on 30 years of experience across companies including Astellas, Abbott, and Genzyme.

What is orphan drug designation and how can CortexBio help?
Orphan drug designation is a regulatory status granted by the EMA and FDA to medicines targeting rare conditions. It provides benefits including market exclusivity, fee reductions, and protocol assistance. CortexBio supports companies in building the clinical and scientific evidence needed to qualify for designation, advising on the documentation, patient population definitions, and regulatory strategy required for successful applications.

How does CortexBio approach rare disease drug development differently?
CortexBio's approach is grounded in the metabolic biology shared between rare genetic disorders and broader disease categories including ageing-related conditions. This cross-disciplinary perspective — developed across four enzyme replacement therapy programmes — enables CortexBio to identify development pathways and patient population insights that a narrower specialist might miss.

Who does CortexBio work with?
CortexBio works with pharmaceutical companies, biotech companies, and investor groups focused on rare disease drug development. Clients typically include companies in early- to mid-stage development working in rare genetic metabolic disorders, lysosomal storage diseases, mitochondrial disease, and rare neurological conditions.

What experience does Dima Martini-Drew MD have in rare disease?
Dima Martini-Drew MD has over 30 years of rare disease experience across companies including Astellas, Abbott, and Genzyme Corporation. She has directed the launch of four enzyme replacement therapy programmes and is a founding member of the Critical Path Institute. Recognised as a Biotech Trailblazer by Global Healthcare Magazine in 2025.

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