Rare Disease Drug Discovery Services
As an experienced rare disease CRO, we partner with biotechnology and pharmaceutical companies, not-for-profits, and family foundations to discover and develop therapeutic candidates from understanding the mechanism of disease and high-throughput screening, to clinical candidate. Our integrated capabilities combine disease biology expertise, translational science, assay development, pharmacology and preclinical research services designed specifically for rare and orphan diseases.
Comprehensive Rare Disease Drug Discovery Services
Advancing therapies for rare diseases requires more than scientific expertise. It requires a partner capable of integrating disease biology, translational science and preclinical development into a cohesive strategy. Whether you are validating a novel target, evaluating an emerging modality or preparing for IND-enabling studies, our rare disease drug discovery services are designed to help you move promising therapies toward patients faster, with a focus on scientific rigor, collaboration and translational insight.
We support disease model phenotype discovery and modality selection.
- In vitro model development from patient iPSCs
- Patient-derived model phenotyping
- In vivo model phenotyping
- Analysis and exploration of different drug modalities
Robust assays are critical for identifying promising therapeutic candidates.
- Cell-based assay development
- Phenotypic screening
- High-throughput screening
- Target engagement studies
- Secondary and orthogonal assays
We help sponsors generate the data required to advance confidently toward clinical development.
Services include:
- Study strategy and design
- Biomarker integration
- Candidate characterization
- Safety assessment (non-glp)
- IND-enabling study planning
- Regulatory strategy
Therapeutic Areas and Rare Disease Expertise
We support drug discovery and preclinical research across a broad range of rare diseases. Our teams adapt study designs and model selection to the biology of each indication and therapeutic approach. We have the expertise and experience to work with novel targets and validate new models across rare neurological, neurodevelopmental, respiratory, sensory, metabolic and chromosomal disorders.
Amyotrophic Lateral Sclerosis (ALS)
Evaluate novel therapeutics using disease-relevant cell models, translational in vivo models, and functional endpoints to assess motor function and disease progression.
Learn moreBatten Disease
Validated models of lysosomal storage disorders and translational readouts enable exploration of the efficacy of novel therapeutics.
Duchenne’s Muscular Dystrophy
Screen potential candidates in clinically relevant in vitro assays and explore efficacy in validated models of this progressive neuromuscular disorder.
Epilepsy and related developmental disorders
End-to-end epilepsy drug discovery services from screening to in vitro safety, combined with deep disease and target expertise, support the development of novel anti-seizure medicines.
Huntington’s Disease
Extensive disease expertise, disease-relevant cell models and assays and validated translational models support Huntington’s disease drug discovery.
Pediatric Cancers
An industry-leading range of pediatric PDX models, combined with deep disease expertise and end to end services supports discovery of novel treatments for rare pediatric cancers.
Advancing Drug Discovery for Rare and Ultra-Rare Diseases
Rare diseases affect more than 300 million people worldwide, yet most conditions lack approved treatment options. Within this landscape are ultra-rare and N=1 diseases, where patient populations may consist of only a handful of individuals or even a single identified patient. These programs present unique scientific and development challenges that require highly customized research strategies.
Our rare disease drug discovery services are designed to support sponsors developing therapies for rare genetic disorders, orphan diseases and individualized treatment approaches. By combining translational science, disease biology expertise and flexible preclinical development capabilities, we help transform novel scientific concepts into actionable development programs.
Whether pursuing a broadly applicable rare disease therapy or a patient-specific intervention, our teams generate the data required to support informed decision-making across discovery and preclinical development.
The emergence of precision genetic medicine has created opportunities to develop therapies tailored to individual patients. Our scientific teams collaborate closely with biotech innovators, academic investigators, patient advocacy organizations, clinicans and pharmaceutical sponsors to develop fit-for-purpose research strategies that align with the unique requirements of highly specialized treatment programs.
Advances in gene editing, antisense oligonucleotides (ASOs), RNA therapeutics, AAV gene therapy and customized genetic medicines are enabling new approaches for diseases that historically had no viable treatment pathway. Since 2018 we have supported programs for more than 30 individual patients across antisense oligonucleotides, AAV gene therapy, and drug repurposing.
As an experienced rare disease CRO, we support N=1 and individualized medicine programs through:
- Mechanism-of-disease investigations
- Patient-specific target assessment
- Customized assay development
- Translational biomarker strategies
- RNA therapeutic development support
- Antisense oligonucleotide screening and lead selection
- Gene therapy evaluation
- Preclinical proof-of-concept studies
Traditional drug development frameworks are not always suitable for rare and N=1 diseases. Development programs often require alternative approaches that maximize scientific insight from limited biological samples and small datasets. By integrating discovery, translational science and pharmacology expertise, we enable a more streamlined development pathway for therapies addressing unmet medical needs.
Our rare disease drug discovery experts help sponsors:
- Evaluate therapeutic modalities
- Identify translational biomarkers
- Design efficient preclinical studies
- Generate regulatory-supporting evidence
- Reduce development timelines
The rare disease therapeutic landscape continues to evolve rapidly. Many of today's most promising programs leverage advanced modalities designed to address underlying genetic causes of disease.
We support development programs involving:
Antisense Oligonucleotides (ASOs): Develop and evaluate oligonucleotide therapeutics designed to modulate gene expression in rare genetic disorders.
Gene Therapies: Assess viral and non-viral gene delivery approaches intended to restore, replace or modify disease-causing genes.
RNA-Based Therapeutics: Support discovery and optimization strategies for siRNA, mRNA and other novel RNA-based therapeutics.
Precision Genetic Medicines: Develop customized approaches tailored to highly specific disease-causing mutations and individualized treatment strategies.
Cell and Gene Editing Technologies: Evaluate emerging CRISPR and cell-based therapeutic platforms designed to address rare and ultra-rare diseases.
Frequently Asked Questions About Rare Disease Drug Discovery
What are rare disease drug discovery services?
Rare disease drug discovery services encompass the scientific activities required to identify therapeutic targets, understand disease biology, discover drug candidates and generate preclinical data supporting future clinical development.
What is an N=1 disease?
An N=1 disease typically refers to an ultra-rare condition in which a therapy may be developed for a single patient or an extremely small number of patients. These programs often involve customized genetic medicines designed around a specific disease-causing mutation.
How does drug discovery differ for N=1 diseases?
N=1 drug discovery often requires highly individualized research strategies, limited-sample experimental approaches, customized biomarkers and close integration between translational science and clinical planning.
Why are rare disease and N=1 programs important?
Although patient populations may be small, these diseases often have severe clinical impact and limited treatment options. Scientific advances in rare disease research are increasingly creating opportunities to deliver therapies to previously underserved patient communities.
What modalities are commonly used for rare and N=1 disease treatment development?
Many N=1 programs focus on antisense oligonucleotides, gene therapies, RNA therapeutics, gene editing technologies and other precision medicine approaches designed to address the underlying genetic cause of disease.
Why are specialized rare disease models important?
Rare disease models help researchers better understand disease mechanisms and evaluate therapeutic efficacy. Models that accurately reflect human disease biology can improve translational relevance and reduce development risk.
