Rare & Metabolic Diseases | Andrej Jedinak, PhD Consulting Services

Rare & Metabolic Disease Expertise Overview

A comprehensive view of our capabilities in rare and metabolic disease drug discovery.

Rare and Metabolic Disease expertise infographic — click to enlarge

Rare & Metabolic Disease expertise map. Click image to view full size.

Our Rare Disease Expertise

Rare diseases, while individually uncommon, represent a major unmet medical need affecting hundreds of millions of patients worldwide. Developing effective treatments for these conditions requires specialized expertise in disease biology, regulatory strategy, and patient-centric development approaches.

Dr. Jedinak's postdoctoral training at Boston Children's Hospital / Harvard Medical School established foundational expertise in rare pediatric diseases and lysosomal storage disorders. This academic grounding, combined with industry experience, provides a unique perspective for rare disease drug development.

From enzyme replacement therapy to substrate reduction and gene therapy approaches, we provide strategic and scientific expertise across the spectrum of rare disease therapeutic modalities.

Lysosomal Storage Diseases

Gaucher Disease Fabry Disease Niemann-Pick Disease Pompe Disease MPS Disorders

Metabolic Diseases

NASH / NAFLD Lipid Disorders Glycogen Storage Diseases Mitochondrial Disorders Wilson's Disease

Therapeutic Approaches

Enzyme Replacement Therapy Substrate Reduction Therapy Chaperone Therapy Gene Therapy RNAi / ASO

Rare Disease Capabilities

Specialized scientific and strategic support for rare disease drug development programs.

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Disease Mechanism

Deep understanding of lysosomal biology, lipid metabolism, enzyme deficiency mechanisms, and downstream cellular consequences.

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Disease Model Development

Patient-derived cell model development, iPSC differentiation protocols, organoid systems, and enzyme activity assays for relevant disease biology.

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In Vivo Rare Disease Models

Study design using genetic and pharmacological models of lysosomal and metabolic diseases, with relevant endpoint analysis and biomarker measurement.

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Orphan Drug Strategy

Regulatory strategy guidance for orphan drug designation, rare pediatric disease designation, and accelerated approval pathways.

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Biomarker Development

Identification and validation of disease-specific biomarkers, enzyme activity markers, and substrate accumulation markers for clinical monitoring.

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Patient Advocacy

Support for patient registry development, natural history study design, and collaboration with rare disease patient advocacy organizations.