A few days ago I was invited to give a conference on the topic “”.Rare childhood diseases: albinism As one of the activities of the ASISA-RANF Chair of Rare Diseases at the Royal National Academy of Pharmacy (RANF). The invitation came from Mariano Esteban, fellow researcher at the National Center for Biotechnology, full academician and honorary president of the RANF, having also been its president, and Honorio Bando, honorary professor at the Faculty of Medicine of the Autonomous University of Madrid. and associated RANF academics, who coordinated the programme. The entire programme, including the introduction, conference and subsequent debate, can be watched again on both the RANF website and YouTube.
During the conference I spoke about rare diseases, highlighting that rare diseases are diseases, not people, and although each of these diseases affects a very small number of patients, globally, thousands of rare diseases affect millions of people. This is one of the many controversies surrounding these disorders or low-prevalence genetic conditions, which almost always appear by surprise in families. I focused on the onset of most rare diseases in childhood, given that they commonly occur in pediatric presentation (2–3% of all newborns may be born with a rare disease). And in particular albinism, a rare genetic condition that affects 1:10,000-20,000 people and which we have been investigating in our laboratory for over 30 years. In particular I noted the different problems that people with albinism face in Africa compared to Europe, and that the existence of some types of syndromic albinism can lead to death of those affected.
Naturally I also talked about our research with animal models of different types of albinism, our avatar mice. And various strategies have been implemented in our laboratory to better understand how albinism is established and why its fundamental consequences are associated with visual disability, beyond pigmentation problems, which are not always manifest. I invite you to watch my conference on the topic “Rare diseases in childhood: Albinism” that I gave at RANF through the website or YouTube channel.