in the know
Genetic disorders, like any complex disease, require a great deal of research. For patients and families, understanding the complexities can often be difficult. Finding the answers you seek is time-consuming and probably frustrating.

One of our missions at Medical Neurogenetics is to help you learn about the complexities of genetic disorders. We strive to provide the explanations we can and help you navigate the Internet to other sites of value.

To learn more about genetic disorders, please visit these sites. The following links are provided as a public service and for informational purposes only. Since Medical Neurogenetics does not participate in the development of these sites we take no responsibility for the content or information contained on these sites. Internet users should always exercise their own judgment about the quality and usefulness of information obtained through these sites.

searching the horizon
Medical Neurogenetics is dedicated to helping those suffering from genetic disorders. Our research and clinical laboratory focuses on identifying and studying the cause and effect of genetic disorders that can have a dramatic impact on many lives.

What is a genetic disorder?

A genetic disorder is a condition caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body and present since conception.

Some genetic disorders are caused by chromosomal abnormalities due to errors in meiosis, the process which produces reproductive cells such as sperm and eggs. Other genetic changes may occur during the production of germ cells by the parent.

Focus on Mitochondrial Research

Mitochondrial diseases are caused by failure of the mitochondria to function properly. Mitochondria are compartments present in every cell of the body, except red blood cells, that are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. Mitochondrial diseases affect both children and adults.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.

Medical Neurogenetics’s clinical laboratory focuses on researching the cause, symptoms, treatments and cures for mitochondrial diseases.

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