Science Compass | Blue Cone Monochromacy (BCM)
La blue cone monochromacy (BCM) è una malattia genetica molto rara che causa principalmente ipovisione, ridotta acuità visiva, fotofobia e nistagmo.
Science Compass, malattia genetica, ipovisione, ridotta acuità visiva, fotofobia, nistagmo, ricerca scientifica, sostenere lo sviluppo terapeutico, blue cone monochromacy
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Blue Cone Monochromacy (BCM)/en

Associazione per la BCM

Towards the cure


Blue cone monochromacy (BCM) is an ultra-rare genetic disease causing mainly blindness, reduced acuity of vision and nystagmus.



The Italian BCM Association was promoted by the mother of two children born with this disease who had been active in the field for some years through an outreach campaign to contact other families at the international level and the private funding of some research projects.


The creation of an international patients’ association, formally founded in the United States through the assistance of ScienceCompass, led the way to the definition of a structured plan to support research, based on a therapy-driven investment strategy.

The association aims at


  • overseeing the science hotspots on BCM and supporting development of the most promising research avenues;
  • implementing standards of care for patients and building an international disease registry in preparation for future clinical trials;
  • raising awareness on the disease and triggering development and distribution of visual aids to grant patients with a better quality of life.
In order to support these activities, ScienceCompass has provided the association with accurate scenario analyses, mapping research on BCM, and proposed strategies to build upon and grow as the reference organization for BCM. This work resulted in a formal stra-tegic plan.

To achieve an overall view of the state of the art and potential areas to act on, ScienceCompass integrated the strategic plan with insights that came from international stakeholders and the scientific community.


The study highlighted the opportunity to pursue a co-development partnership with a US biotech that was interested in the gene therapy of eye diseases and owned the know-how to bring the research funded by the association to the patients’ bedside.


Such agreement was recently signed; a gene therapy for blue cone monochromacy is now being developed.