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.
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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.
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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 commenced late 2024
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Most common recessive peripheral neuropathy
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No therapies available
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Diagnosis for over 3,000 patients in US alone, many without family history and disease onset in adulthood
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Clinical trial is recruiting (INSPIRE)
FGF14 ataxia, discovered in December 2022 with support of GENESIS
--> therapies already under development
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Most common dominant ataxia
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No therapies available
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Diagnosis for ~20% of patients with ataxia, many without family history and disease onset after age 60
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Therapies are in active development
Repeat stability, published in July 2024 with support of GENESIS
--> the first DNA motif preventing transgenerational repeat expansion
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Short tandem repeat stability is a major theme in disease origin
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Potential drug target
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Predictive marker for families with SCA27B expansion
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Guiding the discovery of other such DNA motifs
The research network of GENESIS
Researchers from around the world safely share data and jointly analyze more than 20,000 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 +
100's
of matchmaking events
17,000 +
disease exomes and genomes in active use
We are thankful to our supporters and partners
