If at the beginning of last century began with small steps genetics to incite and find answers to existential questions, today is rightly considered one of the most important events in human history.
From timid attempts to penetrate the universe being to decipher the mechanisms of heredity passed less than a century. Today terms such as chromosomes, genes, DNA mutation, are part of current scientific language and are no longer amazed that our entire life is genetically conditioned.
All these discoveries have revolutionized medicine transforming it into a genetic medicine. Many diseases could be understood as a mechanism, and their treatment has been enriched with a new perspective, gene therapy. Entire human pathology classification changed.
Knowledge of human chromosome 46 described a new type of disease: chromosomal diseases. Down syndrome, described by English physician Down in 1869, is today known as the most common chromosomal abnormality caused by the presence of an extra chromosome 21 and the formation of an abnormal set of chromosomes, 47.
Opportunity to investigate genes allowed the definition of monogenic diseases caused by abnormalities in the structure of a single gene. Haemophilia, described since antiquity as only affecting males and characterized by severe bleeding, he found the explanation in genetics: an abnormal gene on the X chromosome
Cancer, hypertension, diabetes, schizophrenia and many other disorders could be studied and better understood in the light of changing some of the 25,000 human genes that become clinically apparent as environmental factors.
Genetic diseases are extremely diverse, occurs at different ages can affect any organ and have serious medical and social implications:
• In 50% of cases, miscarriage in the first 8 weeks of pregnancy are caused by a chromosomal abnormality of the embryo.
• Congenital heart malformations are found in 5 of 1,000 newborns, can be diagnosed in utero and, depending on the complexity and severity, surgery may help.
• Duchenne Muscular Dystrophy affects 1 in 3,300 male newborns, manifest around the age of 4 years and is developing progressive disability from difficult course to immobilization in a wheelchair and death by respiratory failure 20 years ...
• Alzheimer's affects 5% of people aged over 65 years and is characterized by memory loss, slow and progressive intellectual deterioration, to dementia.
Part of human genetics, medical genetics aims diagnosis and care of patients with genetic diseases and, equally, prevention of these diseases. Through genetic counseling, patients and their relatives are informed by your genetic consequences of disease or risk of transmission in the family, and the ways in which the disease can be prevented or ameliorated. Special screening programs, some genetic diseases can recognize early and appropriate intervention allowing an informed decision:
Neonatal screening for congenital hypothyroidism hypothyroidism allows diagnosis and immediate initiation of appropriate treatment with somatic and mental development of the child affected normal.
Screening and prenatal diagnosis provides an important option reproductive couples at risk, allowing assessment of the health of the fetus and diagnose serious conditions.
Genetic consultation, genetic counseling and genetic testing option to be granted by the Genetic specialists in medical services, complying with the principles of ethics and patient rights.
