Genetic Medicine: The Roots Of Human Beings

<P>Genetic medicine, also known as medical genetics, is a branch of medicine that specializes in diagnosing and treating disorders that are genetically inherited: in other words they are hereditary conditions.  Genetic medical paradigms include gene therapy (which treats diseases through DNA supplementation and modification) and personalized medicine (the treatment of patient in an individual program, based upon his genetic predisposition to disease).  </P> <P>Another, far more speculative branch of this paradigm is predictive medicine, the prediction of diseases and treatments required in advance of the patient actually getting or needing them.  It is speculative because it bases the prediction for needed future medical care on genetic predispositionto disease in the individual patient.  <BR>To a large extent, doctors already do this.  Most medical specialists, whether they are involved in the treatment paradigms of medical genetics or not, will to a large extent base their diagnoses of patients upon family history and predisposition on a genetic basis.  A patient whose family has a history of obesity or heart trouble will raise a red flag for the doctor, whether the patient himself exhibits symptoms of these disorders or not, and the doctor will often fit both diagnosis and treatment to the prevention of a condition that may happen, rather than one that actually exists.  </P> <P>The field of genetic medicine is in principle almost unlimited.  It can encompass the study, diagnosis and treatment of birth defects, autism, mitochondrial disorders, degrees of mental challenge or retardation, the predisposition to cancer, dysplasia (usually skeletal) and even pre-natal diagnoses.  </P> <P>Here are some of the fields of specialization for those interested in genetic medical studies: </P> <UL> <LI> Biochemical and metabolic genetics study metabolic deficiencies that may cause medical conditions such as enzyme deficiencies.  These conditions usually block or seriously curtail the proper metabolic processing of carbohydrates and amino acids, resulting in disorders in the urea cycle, absorption of sugar (called galactosemia), absorption of lipids (called lysosomal storage disorder) and absorption of amino acids (a disorder called phenylketonuria).  </LI> <LI> Cytogenetics is the medical field studying chromosome abnormalities, including birth defects and some cancers (in patients who have either a single missing chromosome or an extra chromosome), in conditions known as aneuploidy and chromosomal rearrangements.</LI> <LI> Molecular genetics studies DNA mutations that result in what are known as single-gene disorders, some of which include achondroplasia (dwarfism), cystic fibrosis (afflicting the lungs with thick secretions) and Rett syndrome (a form of dwarfism of both head and feet, found almost exclusively in females).  </LI> <LI> Mitochondrial genetics is the diagnosis and treatment of such mitochondrial disorders as diabetes, myopathy and numerous systemic maladjustments.  </LI></UL> <P>Treatments for these are as varied as the patients for whom they are prescribed, however, almost all of them center on the patients diet.  These must be tailor-made for the patient, and are usually restrictive dieting, which can assist with urea cycle disorders, galactosemia and phenylketonuria.  The treatments are carefully monitored by nutritionists, since restrictive diets are very difficult for some patients to maintain).  </P> <P>Treatments can also include medications such as enhancements for enzymatic deficiencies or inhibitions to enzymes that are over-prevalent in the patients metabolism.  Vitamin dosages and the use of sodium benzoate are common in the treatment of urea cycle disorders.  </P> <P>A more interesting and controversial treatment program is the enzyme replacement therapy, which infuses patients with recombinant enzymes (usually laboratory-produced), thus reducing deficiencies and imbalances.  </P> <P>The career path for a medical expert in genetics is the same as for most other specialties.  He/she completes not only medical school training but also 4000 clinical hours (often much more) as well as two to three years in study in genetic paradigms and treatments11 to 12 years in all. </P> <P>The path of genetic medicine is a fascinating new one, as it examines and treats the very roots of what molecular elements make up individual human beings.</P>