Rare genetic conditions, one research method
The groundwork for a gene therapy is the same across many rare inherited diseases: patient data, natural history, and the preclinical first steps.
- Furthest along
MSUD
Maple syrup urine diseaseThe body cannot break down three amino acids found in protein.
Where it occurs: most concentrated in Lancaster County, PA, with higher rates in parts of Brazil, Portugal, Turkey and the Philippines.
What is MSUD? → - Next
TNNT1
Nemaline myopathyAn inherited muscle disease that affects breathing and movement from infancy.
Where it occurs: small communities in several countries.
- Next
GM3
GM3 synthase deficiencyAn inherited condition that affects brain development from infancy.
Where it occurs: small communities in several countries.
What does groundwork mean?
- Patient data
- Information gathered from people living with the condition, so researchers know who it affects and how.
- Natural history
- A record of how the condition develops over time, which gives researchers a baseline to measure a future treatment against.
- Preclinical first steps
- The laboratory work that comes before a therapy can be tested in people.
The Harvest of Compassion Foundation is an independent nonprofit. It funds the early groundwork and treatment access for this pipeline. It works with clinics and research organizations, and it does not develop or sell the therapies itself.