The Margarita Salas Center for Biological Research celebrates this September the 25th anniversary of the discovery of the gene that causes alkaptonuria. The finding was led by researchers Santiago Rodríguez de Córdoba and Miguel Ángel Peñalva and was on the cover of the prestigious journal Nature Genetics in September 1996, representing the first complete sequencing of a human gene that took place in Spain.
Alkaptonuria is a rare disease that affects one in every 250,000 people in the world and it is the first disorder of genetic origin which have been described in history. It was the English doctor Archibald Garrod who, at the beginning of the 20th century, became interested in this pathology, whose most characteristic feature is that the urine of those who suffer from it is stained a dark color when it comes into contact with the air. His investigations led him to the conclusion that the origin of the disease had to be the malfunction of an enzyme, caused by a defect in the instructions to produce it; which was a very successful approach to the function of genes in living beings.
To commemorate this scientific anniversary, different activities have been organized. On Thursday, September 23, at 6:30 p.m., Miguel Ángel Peñalva and Santiago Rodríguez de Córdoba have offered the virtual conference ‘Alcaptonuria: 25 years of molecular cloning of the gene responsible for the disease that gave rise to human genetics’, which can be watched here.
Likewise, on Friday, October 8, the CIB Margarita Salas (CSIC) has organized a scientific symposium that will include the participation of several of those responsible for the discovery and other specialists in the genetics of metabolic diseases.
More information (in Spanish):
CSIC press release: link.
Post in 20minutos.es ‘The disease of black urine: a genetic enigma that the CSIC solved’: link.
Video ’25 years of the discovery of the bases… of alkaptonuria’: https://youtu.be/mvlgf_W3hmU
Conference ‘Alcaptonuria: 25 years of molecular cloning of the gene responsible for the disease that gave rise to human genetics’: video here.