Info about Genetics
How can help us medical genetics
If genetic early last century began with small steps to encourage and find answers to existential questions, today it is rightly considered one of the most important events in human history. Today, terms such as chromosomes, genes, DNA mutation, are part of current scientific language and the whole life is conditioned genetically.
These findings have revolutionized medicine, turning it into a medical genetics. Many diseases could be understood as a mechanism, and their therapy was enriched with a new perspective, gene therapy. The 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 anomaly, caused by the presence of an extra chromosome 21 and forming an abnormal set of chromosomes, 47.
Opportunity to investigate these 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 haemorrhage, has been found the explanation: an abnormal gene of chromosome X. Cancer, hypertension, diabetes, schizophrenia and many other diseases could be studied and better understood, which are under the influence of clinical factors of the environment.
Genetic diseases are extremely diverse, occurs at different ages and may affect any organ and have serious medical and social implications:
• In 50% of cases, miscarriage in first 8 weeks of pregnancy are caused by chromosomal abnormality of the embryo.
• Congenital heart malformations are meet in 1000 newborns and can be diagnosed in utero, depending on the complexity and severity, surgery may help.
• Duchenne muscular dystrophy affects one in 3,300 newborn males, manifest around the age of 4 years, from a wheelchair to death by respiratory failure 20 years later ...
• Alzheimer's disease affects 5% of persons aged 65 years and is characterized by memory loss, slow and progressive intellectual deterioration, to dementia.
Part of human genetics, medical genetics purpose is diagnosis and care of patients with genetic diseases and, equally, prevention of these diseases. Through genetic counseling, patients and their relatives are informed by the doctor on the consequences of genetic disease risk occurrence or transmission in the family, and ways in which disease can be prevented or ameliorated, some genetic diseases can be recognized early and appropriate intervention allowing an informed decision: