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Peter K. Gregersen, MDPrincipal Investigator

Elena Kowalsky, CCRC, Co-Investigator, Research Coordinator

Genetics of absolute pitch

Absolute pitch, commonly known as perfect pitch, is most often defined as the ability of individuals with some musical training to identify the musical pitch or frequency of a note (or ambient sound) without reference to another pitch. Individuals with absolute pitch hear musical pitches and identify them immediately and effortlessly using letter names, (for example, “C” or “F-sharp”), without looking at the instrument being played or being given a reference.

This cognitive trait is generally considered a musical “gift” or enhancement. The prevalence in the general population is not known, however it has been estimated that 1 of 1,500 school age children experience it.

We have established that absolute pitch has a strong genetic basis. We identified the location of absolute pitch genes on chromosomes 2 and 6 and are focused on identifying the specific genes.

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Absolute pitch and synesthesia

Synesthesia is a neurological condition defined as an involuntary crossing or joining of sensory experience. Information received through one sense experience, (e.g., viewing letters or hearing sound) triggers an automatic, consistent response in another sense perception (e.g., color or smell). Each response remains consistent over time; however, every synesthete’s stimulus/response experience is unique. Synesthesia has been reported to affect approximately 1% of the population.

We have demonstrated that absolute pitch and synesthesia are phenotypically and genetically closely related.

General population pitch perception studies

Our team creates free research apps compatible with the iPhone, iPad and iPod Touch (available on the iTunes app store). The apps are designed to test and understand variation and general musical pitch perception in the general population. They also test for the absolute pitch trait in individuals with little or no musical training; thereby allowing us to assess the prevalence of absolute pitch in the general population for the first time.

Applications for science

Absolute pitch and synesthesia, both quantifiable traits, provide us with the opportunity to look at the relationship between inheritance, brain development, early childhood education and cognition. Large population studies could provide a strong model for further studies of synesthesia, related cognitive traits and also autism, a disorder in which increased incidence of absolute pitch has been reported.