Medicine Made to Measure
Lead Research Organisation:
University of Cambridge
Department Name: Clinical Neurosciences
Abstract
Modern medicine seeks to personalize diagnosis and treatment to the needs of individual patients. This need is heightened in particular for those individual patients where no treatments are available - and where current standard treatment development paradigms exclude to generate such. The ultimate goal of Medicine made to Measure (MMM) is to go even beyond the latest genetic medicine approaches, implementing a novel paradigm of treatment development: the field of single patient tailored antisense oligonucleotide (ASO) treatments for patients with nano-rare disease mutations. Specifically, MMM will develop core modules of a
novel "out-of-the-box", but still EMA-advised treatment development path for these patients - from omics-based theranostics, via preclinical target validation to innovative trial methodology and a pioneering ethical framework for individualised genetic therapies.
MMM provides a unique opportunity for doctoral candidates to be involved in building - and to receive training - in all core modules needed for tailored ASO treatment in Europe. This new scientific field requires a new generation of open-minded, technology-fluent and applications-oriented experts.
MMM will help educate future drug development and translational experts in adopting and disseminating such a cross-specialty approach. Our idea for this innovative training network is built on our personal experience and understanding of the importance of single patient tailored genetic treatments in the years to come. We propose a consortium of world-leading experts and partners that present with extended experience and relevant know-how in molecular biology, neurology, translational medicine, biochemistry, bioinformatics, philosophy, mathematics, regulatory science and engineering. Thus, MMM provides an exceptional platform to young, ambitious and talented researchers who like to engage in supporting the concept of single patient tailored treatments.
novel "out-of-the-box", but still EMA-advised treatment development path for these patients - from omics-based theranostics, via preclinical target validation to innovative trial methodology and a pioneering ethical framework for individualised genetic therapies.
MMM provides a unique opportunity for doctoral candidates to be involved in building - and to receive training - in all core modules needed for tailored ASO treatment in Europe. This new scientific field requires a new generation of open-minded, technology-fluent and applications-oriented experts.
MMM will help educate future drug development and translational experts in adopting and disseminating such a cross-specialty approach. Our idea for this innovative training network is built on our personal experience and understanding of the importance of single patient tailored genetic treatments in the years to come. We propose a consortium of world-leading experts and partners that present with extended experience and relevant know-how in molecular biology, neurology, translational medicine, biochemistry, bioinformatics, philosophy, mathematics, regulatory science and engineering. Thus, MMM provides an exceptional platform to young, ambitious and talented researchers who like to engage in supporting the concept of single patient tailored treatments.
Publications
Chelban V
(2024)
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
in Nature communications
Choueiri CM
(2024)
Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish.
in Human molecular genetics
Falabella M
(2024)
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
in Brain
Ratnaike T
(2024)
Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis
in BMJ Neurology Open
Tiet M
(2025)
Novel observation for adult ataxia-telangiectasia: evaluating the lack of hypointensity of the dentate nuclei
in Journal of Neurology, Neurosurgery & Psychiatry
| Title | Extraction of extracellular vesicles from cell culture media of cellular models and from serum of patients wityh mitochondrial disease |
| Description | In collaboration with Susan Ozanne`s group at the Institute of Metabolic Science, University of Cambridge, we have established the method of extraction of vesicles and confirmed their mitochondrial content. |
| Type Of Material | Technology assay or reagent |
| Year Produced | 2024 |
| Provided To Others? | No |
| Impact | We wrote a new grant application based on the pilot data. |
| Description | Collaboration on mitochondrial extracellular vesicles |
| Organisation | University of Cambridge |
| Department | Institute of Metabolic Science (IMS) |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | In collaboration with Susan Ozanne we started to isolate extracellular vesicles and study the mtDNA in these in serum of patients with primary mitochondrial disease. We wrote a joint grant application to fund further joint research. |
| Collaborator Contribution | Prof. Ozanne`s lab is expert in studying extracellular vesicles and helped us with the methods. |
| Impact | We wrote a joint grant application to fund further joint research. |
| Start Year | 2024 |
| Title | Deferiprone in neuroferritinopathy |
| Description | The clinical trial with deferiprone, an iron chelator in neurogferritiniopathy has been started in 2024. I am the PI of the trial. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Refinement. Clinical |
| Year Development Stage Completed | 2024 |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| Impact | the trial is ogoing |
