Research
Aligned with the second pillar of its mission — enhancing knowledge about albinism — the Global Albinism Alliance has, since its inception, initiated various projects and activities to advance research on albinism.
To date, the focus has primarily been on the biomedical aspects of albinism. However, the GAA envisions broadening its scope in the future to support research across all fields, including social sciences and human rights.
The International Scientific Conference on Albinism – ISCA – was created by the Global Albinism Alliance (GAA) in 2022. It is currently the cornerstone of the Alliance’s workstream aiming at improving knowledge about albinism.
ISCA is THE meeting point worldwide for all scientists interested in sharing and improving knowledge of the biomedical aspects of albinism. It is a space where researchers and healthcare providers from all countries of the world can meet, exchange and discuss solutions to improve the health of those with albinism.
The inaugural ISCA conference took place online in November 2022, building on the momentum of the European Days of Albinism (EDA) conference series. From 2012 to 2020, the EDA conferences were co-organized biennially by Albinism Europe—a network of European associations representing individuals with albinism—and a different national albinism association from Europe.
The Albinism Variant Curation Expert Panel established in 2023 through the initiative of the Global Aniridia Alliance and several internationally renowned experts in albinism, was created to develop criteria for classifying genetic variants (i.e., mutations) in genes linked to ocular and oculocutaneous albinism.
It is co-chaired by Dr. David Adams from the NIH (Bethesda, MD, USA) and Dr. Panagiotis Sergouniotis (Manchester, UK) and coordinated by Antoine Gliksohn, the GAA Executive Director.
The Albinism VCEP will initially generate criteria for the Tyrosinase (OCA1) and OCA2 genes. In the longer run, the group intends to currate all remaining albinism genes, including TYRP1, SLC45A2, SLC24A5, LRMDA, DCT and GPR143 corresponding respectively to OCA3-8 and OA1.
The ultimate goal of this years-long project is globally-available resource to provided highest-possible-quality diagnostic information for persons with albinism and their families.
Project website: https://clinicalgenome.org/affiliation/50154/
In many regions of the world, particularly in the tropics, a significant proportion of persons with albinism develop skin cancer before the age of 30, with some cases arising even in childhood. The lack of timely and effective diagnosis and treatment contributes to skin cancer being the leading cause of premature mortality among PWA in these affected regions.
Despite the alarming scale of this public health issue, only a limited number of studies have been conducted to enhance understanding of skin cancer in PWA. Consequently, data on its epidemiology and prevalence remain scarce.
This lack of evidence and knowledge poses a significant barrier to effective advocacy and hinders the development of appropriate policies and programs to address this critical issue. To tackle this challenge, the GAA has initiated a series of activities aimed at promoting research on skin cancer in persons with albinism.
A significant step forward was taken in 2023 with the establishment of a collaboration with the International Agency for Research on Cancer (IARC), the specialized cancer agency of the World Health Organization whose mission is to foster international collaboration in cancer research.