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Barahona & Ayala1 describe the development of genetics in Mexico. However, they devote little space to human and medical genetics, fields in which Mexican scientists have enjoyed a fruitful history since the 1940s (Ref. 2). Despite the relatively small number of specialists who are devoted to human genetics, Mexican researchers and clinicians have made important contributions to the field.

The Mexican Association of Human Genetics was created in 1968. It has nearly 600 members and since 1975 it organizes the Annual National Congress of Human Genetics. Mexico was also the first Latin American or Caribbean country to create, in 2003, a National Institute of Genomic Medicine and an Association of Genomic Medicine.

The first postgraduate programme in Medical Genetics in Mexico was established in 1969 in the Unit for Research in Human Genetics at the Pediatric Hospital, National Medical Center, of the Mexican Institute for Social Security (IMSS)3. There are currently 25 M.Sc. and Ph.D. programmes that are related to human genetics and genomic medicine. The Mexican Board of Human Genetics, an affiliate of the National Academy of Medicine of Mexico, was created in 1977 and has 250 members.

Research in human population genetics in Mexico began in 1949. The first study on the distribution of genetic markers in the Mexican Mestizo and Indian population in 1952 (Ref. 4) was followed, throughout the 1960s and 1970s, by studies to characterize the genetic composition of the Mexican population (these data are summarized in Ref. 5).

Mexico has also made important contributions to human cytogenetics, particularly medical cytogenetics. The first Unit for Research in Human Genetics in the country was launched in 1966 at the IMSS. This Unit has contributed, for example, to exploring new methods of chromosome banding, the effect of severe protein calorie malnutrition on chromosome structure6 and the effect of mutagenic agents on chromosomes. New genetic2 and chromosome syndromes have been reported, and novel hypotheses on the aetiology of Down syndrome have been developed7. Other programmes and accomplishments are discussed in Ref. 2. The social implications of research in genetics have also been discussed8,9.

Two genetic screening programmes have become models for other developing nations: the Program of Early Detection of Inborn Errors of Metabolism10 and the Registry and Epidemiological Surveillance of External Congenital Malformations11 involve 15 hospitals across the country.

The rapid development of molecular genetics and the application of these achievements to medicine constitute a singular challenge for developing countries. Mexican researchers have been at the forefront of human molecular genetics and biotechnology. So, Francisco Bolivar, the first Director of the Institute of Biotechnology of the National Autonomous University, was awarded the Principe de Asturias Prize for his work on insulin and somatostatin synthesis and the attainment of plasmids as cloning vectors2.

Mexico is currently an enthusiastic participant in the International HapMap Project12 and is collecting genomic data on several Mexican populations.

The successful developments of human genetics in Mexico are examples of how domestic research can improve the standard of living in developing countries by linking advances in human genetics to health improvement.