Genetic/ Hereditary Diseases
- On the T.V. show "House" there was an episode about a women with obsessive compulsive disorder, chorea, kidney failure, etc. House’s diagnosis: McLeod neuroacanthocytosis syndrome. This disorder affects movement in various parts of the body. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). Also known as McLeod syndrome, McLeod neuroacanthocytosis syndrome is a genetic disorder that occurs almost exclusively in males. This proves that this episode is unrealistic, and shows that common misconceptions about genetic disorders are made easily; like who it can affect.
- On the T.V. show "Doctors" there was an episode named “Outsmart Your Genes” where the doctors asked Existence Genetics to perform Existence’s unique genetic testing on three individuals for the show (one teenager and one newlywed couple) and the results were discussed during the episode. This episode was a good way to inform people that there are ways to be tested for genetic risk factors.
"Genetic Instabilities and Hereditary Neurological Diseases" by
Robert D. Wells, Stephen T. Warren, and Marion Sarmiento. The book describes investigations into the underlying molecular mechanisms responsible for these syndromes. The book includes:
First authoritative review of neurological diseases related to repeat expansions
- Description of clinical, human genetics, molecular biological, and biophysical investigations into these syndromes
- Contributions by most of the principal research teams in the area, edited by world-renowned leaders
Lays the background for future investigations on related diseases
This book is good resource for those looking to expand their knowledge of genetic diseases
Here are a few examples:
- You can contact the Genetic and Rare Disease Information Center. They're staffed by experienced information specialists to answer questions in English and Spanish from the general public, including patients and their families, health care professionals and biomedical researchers. It was established by the National Human Genome Research Institute and the Office of Rare Diseases Research.
Immediate and Long Term Risk Factors
RISK FACTORS OF GETTING THIS HEREDITARY DISEASE:
- Age. The risk of developing AD rises after age 65, and rises sharply after age 75. While 1% of the population has AD at age 65, almost 50% of those over 85 have it.
- Gender. Women are more likely to develop AD than men. As of 2002, however, it is not known whether women are more susceptible to the disorder, or more likely to develop it because they live longer than men, on average.
- Family history of AD.
- Having Down syndrome.
- History of head injuries
- Substances in the environment. Higher-than-average amounts of aluminum have been found in the brains of patients with Alzheimer's.
- Low occupational attainment and education level. Studies have found a clear correlation between employment in jobs that are not mentally challenging and an increased risk of AD. In addition, taking less rather than more challenging jobs as one grows older is associated with a higher risk of AD.
- High systolic blood pressure.
- High blood cholesterol levels. When both high systolic blood pressure and high cholesterol are present, the risk of developing AD increases by a factor of 3.5.
- Mild cognitive impairment (MCI). Mild cognitive impairment is a transitional decline in cognitive functioning that precedes the onset of AD. MCI is characterized primarily by memory loss while other cognitive functions remain intact. People with MCI are at higher risk for AD than people who do not develop the condition; 12% of people with mild cognitive impairment develop Alzheimer's disease each year, compared with 1–2% per year of people without MCI. After four years, 40% of people diagnosed with mild cognitive impairment have clear symptoms of Alzheimer's disease
- short-term memory loss
- temporary episodes of spatial disorientation
- groping for words while one is speaking
- minor problems with basic math, and small errors of judgment
MIDDLE STAGE: (typically begins two to three years after onset)
- The person begins to lose awareness of his or her cognitive deficits
Memory lapses are more frequent and the person begins to have more severe problems with language
Behavioral and psychiatric symptoms that are so stressful to caregivers often begin— the agitation, wandering, temper outbursts, depression, and disorientation
Patient is at high risk for falls and similar accidents
Patient becomes increasingly unable to understand simple instructions or to follow a conversation, and begins to lose his or her basic sense of personal identity
- Marked by the loss of the ability to walk and eventually even to sit up
- Patients may be able to use a wheelchair for awhile but eventually become
- They lose bladder and bowel control
- When the disease begins to affect the patient's brain stem, the basic processes of digestion, respiration, and excretion shut down
- Patients usually stop eating at this point and sleep most of the time
The hands and feet begin to feel cold, the breathing becomes shallow, and the patient is generally unresponsive to caregivers
Eventually the patient's breathing simply stops
The global market for products to treat genetic disorders was worth $12.8 billion in 2009 and is estimated to reach $17.3 billion by 2014, a compound annual growth rate (CAGR) of more than 6%.
- There has also been the discovering of new genetic mutations in genes, and scientists are learning how to treat them. Here is an article that applies to this (http://io9.com/5835215/10-recent-genetic-discoveries-and-the-diseases-they-will-help-treat)
- http://www.ncbi.nlm.nih.gov/pubmed/11233657 “A clustering of Crohn's
disease in Mankato, Minnesota.” By Van Kruiningen HJ, Freda BJ.