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The Genesis Project is a patient and scientist managed  foundation (501(c)(3)). We enable genomic discoveries and the acceleration of therapies for rare diseases; thus, ending diagnostic odysseys for patients and families. 

We provide a thriving genomics research database and platform - GENESIS - to foster academic collaboration via data sharing and joint analysis of the human genome. GENESIS has an unmatched  track-record in supporting the discovery of disease genes. It is used by many scientists in the field of rare disease genetics.

Our Foundation brings together an international research network of scientists, academic institutions, and not-for-profit patient organizations.

Medicine is at a 'sea change' - genomic discoveries are being turned into therapies in record time


SORD neuropathy, discovered in May 2020 in GENESIS 

 --> clinical trial started in May 2022

  • Most common recessive peripheral neuropathy

  • No therapies available 

  • Diagnosis for over 3,000 patients in US alone, many without family history and disease onset in adulthood

  • Clinical trial is recruiting (INSPIRE)

FGF14 ataxia, discovered in December 2022 with support of GENESIS 

 --> therapies already under development

  • Most common dominant ataxia

  • No therapies available 

  • Diagnosis for ~20% of patients with ataxia, many without family history and disease onset after age 60

  • Therapies are in active development

The research network of GENESIS

Researchers from around the world safely share data and jointly analyze more than 17,000 deidentified genomic datasets from rare disease patients. 

The Genesis Project is supporting impactful science

100 +

supported discoveries of novel disease - gene relationships

papers that cited, used, or mentioned Genesis

200 +


of matchmaking events

17,000 +

disease exomes and genomes in active use

We are thankful to our supporters and partners

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