Mining the diagnosis of rare disease with limited resources

Tkemaladze, Tinatin

doi:10.1038/s41588-024-01818-3

Nat Genet

2024

DOI: 10.1038/s41588-024-01818-3

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Mining the diagnosis of rare disease with limited resources

Tinatin Tkemaladze

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Preclinical research (on rare diseases): we need to talk about health equity

Greenfield

2024

Mamm Genome

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There is a thriving, worldwide, biomedical research community working to understand the molecular bases of diseases of all types, continuously driving improved diagnostics and therapies. Developments in genetics and experimental medicine are yielding novel genetic therapies that were hardly dreamt of 40 years ago. But along with these scientific achievements, there exist challenges in ensuring that 21st century medical interventions are accessible to all who need them. This perspective will discuss how preclinical research, with a focus on rare diseases, can better contribute to healthcare ecosystems that are oriented towards greater health equity. This contribution may require changes to the prevailing scientific research culture that will need support from relevant institutions and the wider community.

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Preclinical research (on rare diseases): we need to talk about health equity

Greenfield

2024

Mamm Genome

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Mining the diagnosis of rare disease with limited resources

Cited by 1 publication

References 2 publications

Preclinical research (on rare diseases): we need to talk about health equity

Preclinical research (on rare diseases): we need to talk about health equity

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