Medical Genetics in Zulia, a State of Venezuela

Abstract

Zulia is a state located in the northwest of Venezuela. Congenital malformations, deformities and chromosomal anomalies are the second cause of infant and neonatal mortality. There are seven public and private groups providing genetic services, the most important of which, the Medical Genetic Unit at the Zulia University was created in 1973. So far, this unit has provided genetic services to 12,000 families, and has been responsible for undergraduate and postgraduate education in human and medical genetics. Prenatal diagnosis is performed at the Unit and a private practice group, the most frequent referral reason being advanced maternal age. The most frequent genetic diseases in the state are Huntington’s disease, sickle cell anemia, neural tube defects and Down’s syndrome. Research in genetics includes the clinical, epidemiological and molecular characterization of hereditary diseases, cancer, reproductive problems and genetic diversity. Other public groups are conducting research on dementias, including Alzheimer’s disease, and on the genotoxic effects of environmental pollutants.

3-Nitropropionic Acid as a Tool to Study the Mechanisms Involved in Huntington’s Disease: Past, Present and Future

“…HD is catalogued as a rare disease, with a stable prevalence in white populations affecting 5-7 individuals per 100,000 [ 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 ]. The age of onset ranges between 30 and 40, with death occurring after 15–20 years; onset sometimes occurs early in young people at around 20 and evolves over periods of around five years [ 1 , 11 , 12 , 13 , 14 , 15 , 16 , 17 ].…”