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.