Research Areas
 

Genetic Disorders

A genetic disorder is a disease caused by an abnormality in an individual’s genome (an individual’s genetic material). Abnormalities can range from an unwelcome mutation (an alteration of a gene), as are most cancers, to the addition or subtraction of an entire chromosome or set of chromosomes.


The defective genes are often inherited from the person’s parents. This kind of genetic disorder is known as a hereditary disease. A mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease.

There are four different types of genetic disorders: single-gene, multifactorial, chromosomal and mitochondrial.


Single-gene

This type is caused by changes or mutations that occur in the DNA sequence of one gene. When a gene is mutated, resulting in an enzyme or protein not being produced or having altered functionality product can no longer carry out its normal function, a disorder can result.

Multifactorial

This type is associated with the effects of multiple genes in combination with lifestyle and environmental factors. Multifactoral disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified.

Chromosomal

This type is caused by a change in the number or structure of chromosomes. Changes that affect entire chromosomes or segments of chromosomes can cause problems with growth, development, and function of the body’s systems.

Mitochondrial

This type of inheritance is a relatively rare type of genetic disorder. It is caused by mutations in the nonchromosomal DNA of mitochondria.


Individualized Medicine or Pharmacogenomics

As human beings we have single genetic blueprints, which affect our risks for illness and how our bodies respond to disease. Each person who has a disease reacts to that disease in his or her own way. However, still nowadays, the treatment it is not totally individualized. Pharmacogenomics is the science that studies how individuals react to medications.


Pharmacogenomics segment promises to offer personalized medicine treatments based on a person’s genetic profile. Pharmacogenomics allows us to identify sources of an individual’s profile of drug response and predict the best possible treatment option for this individual (dosage, for instance). In addition to new possibilities of discovery and development of a drug, Individualized Medicine is also important to ensure better detection, prevention, treatment, and hopefully eradication of diseases.


Advantages

• Using medication for a specific need
• Reduce adverse reactions to medications
• Safer dosing options
• Improvements in drug discovery and development
• Reduced healthcare costs and medical expenditures
• Better diagnoses and earlier disease intervention