Oculocutaneous Albinism News and Research

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First patient-derived stem cell model developed for studying oculocutaneous albinism

Researchers at the National Eye Institute have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA).

11 Jan 2022

Drug increases melanin production in some people with albinism

A small pilot clinical study at the National Eye Institute suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism type 1B, a rare genetic disease that causes pale skin and hair and poor vision.

21 Feb 2019

Study finds that TPC2 protein regulates melanin production

A year and a half ago, researchers at Brown University found a molecular gas pedal for melanin production. Now they've found a brake. For scientists, the finding deepens not only the basic understanding of how eyes, skin and hair gain color, but also what perhaps can be done in disorders, such as albinism, when that doesn't happen.

27 May 2016

Research finding could inspire new ideas for treating type 2 oculocutaneous albinism

Newly published research provides the first demonstration of how a genetic mutation associated with a common form of albinism leads to the lack of melanin pigments that characterizes the condition.

17 Dec 2014