DA VINCI Leonardo, 1452-1519, (dyslexia) (epilepsy),
One of the greatest painters and most versatile geniuses in history. He was one of the key figures of the Renaissance era. He was trained as a painter but he had other interests that he dealt with over the years. Many of his inventions and scientific ideas were centuries ahead of his time.
DICKENS Charles, 1812-1870, (mental disorder) (epilepsy),
British author who suffered from clinical depression. Also known for writing A Christmas Carol which depicted a disabled child Tiny Tim.
MICHAELANGELO, 1475-1564, (mental disorder) (epilepsy),
One of the world’s greatest artists. He suffered with mental illness. After 1546 he devoted much of his time to architecture and poetry. Pope Paul III appointed him supervising architect of St. Peter’s Basilica which was one of Pope Julius II’s unfinished projects.
MOHAMMED [Mahomet Muhammad],570-632, (epilepsy),
Arab prophet and founder of Islam, 1622. Prophet of Allah. Wrote The Koran. Considered by most Muslims to have been sinless.
NEWTON Sir Issac, 1646-1727, (epilepsy),
He left college (Trinity College) in Cambridge from 1665-1666 due to the bubonic plague. During this time he developed calculus, the law of universal gravitation, the binomial theorem and discovered the composite nature of white light. Newton was a shy and sickly boy and remained shy as an adult. He went to great lengths to avoid controversy.
NOBEL Alfred, 1833-1896, (epilepsy),
Swedish Chemist, Engineer and Inventor of Dynamite. Philanthropist left $9.2 million for annual Nobel Prizes first awarded 1901. He established the Nobel Prizes.
The Samian Sage. Greek philosopher and mathematician discovered principles of musical pitch. Was famous for formulating the Pythagorean Theorem which states that the square of he hypotenuse of a right angled triangle is equal to the sum of the squares of the other two sides.
Greek Philosopher and teacher. Viewed philosophy as necessary pursuit of all intelligent men, teacher of Plato. Was one of the most original, influential and controversial figures in ancient Greet philosophy and in the history of western thought.
TCHAIKOVSKY Peter Ilyich, 1840-1893, (epilepsy),
First Russian composer whose music became part of the standard concert program in Western Europe. Known for classical ballet scores Swan Lake 1877. Nutcracker Suite l892, Sleeping Beauty 1889.
VAN GOGH Vincent, 1853-1890, (mental disorder)(epilepsy),
Celebrated artist who had bipolar depression. Post-impressionist did not receive recognition for his genius until after his death.
Ludwig Van Beethoven
Deaf, Asthma Larry Flint
Spinal Cord Injury
Spinal Cord Injury Emily Dickinson
Michael J. Fox
Parkinson's Alan Alda
Learning Disability Alexander Graham Bell
Annie Sullivan, Teacher of Helen Keller
Visually Impaired Claude Monet
Ed Roberts, Founder of the Independent Living Movement
Polio Franklin D. Roosevelt
Polio, Impaled Julius Caesar
King George III
Porphyria Louis Braille
Polio Sarah Bernhardt, French Actress 1844-1923
Visually Impaired, ADD Thomas Edison, Inventor
Vincent Van Gogh
Psychiatric Disability Walt Disney
Learning Disability Montel Williams
Blind Donald Sutherland
Traumatic Brain Injury, Epilepsy Agatha Christie
Bi-Polar Pierre-Auguste Renoir, Artist
Rheumatoid Arthritis, used a wheelchair
Club Foot Helen Keller
Blind and Deaf
Spinal Cord Injury Ronnie Milsap
Depression, Marfan's Stephen Hawking, Astrophysicist
ALS (Lou Gehrig's Disease)
Depression John Updike
John Cougar Mellencamp
Spina Bifida Toulouse Lautrec
Hearing Impairment Teddy Pendergrass
Spinal Cord Injury
One Functioning Arm Lance Armstrong, Won Tour de France two years in a row
Chris Burke, Actor
Down's Syndrome Tom Cruise
Marlee Matlin, Actress
Deaf Jim Abbott, Major League Baseball Player
Mike Utley, Athlete
Spinal Cord Injury Terence Parkin, Olympic Swimmer
Marla Runyan, Olympic Runner
Visually Impaired Harry Anderson
Jean Driscoll, Olympic Runner
Spina Bifida Stephen Bacque, Entrepreneur of the Year, 1998
Dyslexic George Burns
Dyslexic Leonardo Da Vinci
Hans Christian Anderson
Dyslexic Danny Glover
Dyslexic Bruce Jenner
Dyslexic George S. Patton
Nolan Ryan, Athlete
Dyslexic Charles Schwab
Dyslexic Tom Smothers, Comedian
Greg Louganis, Olympic Diver
Dyslexic Kurt Vonnegut, Author
Mood Disorder Mike Wallace
Samuel Johnson, 18th Century Writer
Tourette's Syndrome Wolfgang Amadeus Mozart
Mel Tillis, Country Singer
Speech Impediment Daniel Inouye, U.S. Senator
Learning Disability Woodrow Wilson
Learning Disability Alexander the Great
Goya, Spanish Painter
Deaf John Milton, Author/Poet
Lynn Rivers, Congressional Representative
Bi-Polar Carly Simon
James Earl Jones
Stutter Bruce Willis
Charles I, King of England from 1625 until 1649
Stutter Napoleon Bonaparte
Epilepsy, Attention Deficit Disorder
Epilepsy Elizabeth Barrett Browning
Itzhak Perlman, Violinist
Polio Lord Byron, Poet
Heather Whitestone McCallum, Former Miss America
Deaf Richard Burton
Edgar Allen Poe, Author
Epilepsy, Bipolar Sir Isaac Newton
Lou Ferigno, Incredible Hulk
Hearing Impaired John Callahan, Cartoonist
Asthma Jason Alexander
Jackie Joyner-Kersee, Olympic Medallist
Asthma Curtis Pride, Once Detroit Tiger
Buzz Aldrin, Astronaut
Bipolar Disorder Brian Wilson, Musician, Composer (Beach Boys)
Ned Beatty, Actor
Bipolar Disorder Linda Hamilton
Bipolar Disorder Kristy McNichol
Carrie Fisher, Writer, Actor
Bipolar Disorder Ray Davies, Musician
Jonathan Winters, Comedian, Actor, Writer
Bipolar Disorder Axl Rose, Musician
Gordon Sumner (Sting), Musician, Composer
Bipolar Disorder Robin Williams
Attention Deficit Disorder Steve McQueen
Attention Deficit Disorder
Admiral Richard Byrd
Attention Deficit Disorder Bill Cosby
Attention Deficit Disorder
Attention Deficit Disorder Sylvester Stallone
Attention Deficit Disorder
Ann Bancroft, First Woman to Travel Across the Ice to the North and South Poles
Dyslexic Neil Bush, Son of Barbara and Former President Bush
Stephen J. Cannell, Screenwriter, Producer, Director
Dyslexia Dr. Red Duke, Physician, Television Comentator
Dyslexia William James, Philosopher
Edward James Olmos
Dyslexia Jackie Stewart, Race Car Driver
Dyslexia William B. Yeats, Poet
Dyslexia Jay Leno
Dyslexia Anthony Hopkins
Epilepsy Truman Capote
Epilepsy George Freidrich Handel
ADD John F. Kennedy
Attention Deficit Disorder
Attention Deficit Disorder Dan Quayle
Attention Deficit Disorder
Dwight D. Eisenhower
Attention Deficit Disorder F. Scott Fitzgerald
Attention Deficit Disorder
Attention Deficit Disorder Pete Rose
Attention Deficit Disorder
Attention Deficit Disorder John Lennon
Attention Deficit Disorder
Attention Deficit Disorder John Nash
Lionel Aldridge, Football Player
Schizophrenia Peter Green, Guitarist for Fletwood Mac
Syd Barrett, Pink Floyd
Schizophrenia Vaslav Nijinsky, Dancer
Eugene O'Neill, Playwright
Depression Robert Schumann, Poet
John Keats, Poet
Mental Illness Tennesse Williams, Playwright
Depression Vivian Leigh
Bi-Polar Jimmy Piersall
Phenylketonuria (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Loss of this enzyme results in mental retardation, organ damage, unusual posture and can, in cases of maternal PKU, severely compromise pregnancy.
Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid. Mutations in both copies of the gene for PAH means that the enzyme is inactive or is less efficient, and the concentration of phenylalanine in the body can build up to toxic levels. In some cases, mutations in PAH will result in a phenotypically mild form of PKU called hyperphenylalanemia. Both diseases are the result of a variety of mutations in the PAH locus; in those cases where a patient is heterozygous for two mutations of PAH (ie each copy of the gene has a different mutation), the milder mutation will predominate.
A form of PKU has been discovered in mice, and these model organisms are helping us to better understand the disease, and find treatments against it. With careful dietary supervision, children born with PKU can lead normal lives, and mothers who have the disease can produce healthy children. top link
Epilepsy affects approximately 1% of the population making it one of the most common neurological diseases. Epilepsy can strike at any time of life—from infancy to old age. While epilepsy varies widely in type and severity, all forms of this disorder are characterized by recurring seizures resulting from abnormal cell firing in the brain. In approximately 30% of cases, epilepsy is caused by such events as head trauma, tumor, stroke, or infection. In those cases for which there is no known cause, recent evidence suggests there may be genetic predisposition to developing the disease.
There are many forms of epilepsy—most are rare. But to date, at least twelve forms of epilepsy have been demonstrated to possess some genetic basis. For example, LaFora Disease (progressive myoclonic, type 2), a particularly aggressive epilepsy, is characterized in part by the presence of glycogen-like Lafora bodies in the brain. It is an autosomal recessive disorder that has been linked to mutation of the gene EPM2A, found on chromosome 6. This gene produces a phosphatase called laforin. The regulatory function of the phosphatase may be disrupted by mutation, leading to LaFora Disease. Some recent work suggests that laforin may be found in similar parts of the cell as glycogen synthase, a glycogen processing enzyme, and that the mutations may misplace laforin within the cell, leading indirectly to a loss of EPM2A function.
Much progress has been made in narrowing down regions of chromosomes associated with different forms of epilepsy. With this effort, scientists continue to expand the list of genes involved in seizure disorders. Animal models of epilepsy also contribute to our understanding of electrical brain disturbances. By focussing on the genetic basis for epilepsy, scientists hope to develop more effective anticonvulsive treatments and, possibly, gene replacement therapies for seizure disorders such as LaFora Disease.top link
Nov 18, 2004
Addiction may be in the genes
SCIENTISTS have uncovered at least half a dozen genes which could predispose a person to becoming an alcoholic or drug addict, or protect him from going down that road.
These small genetic differences, they say, could also point the way towards curing people of these addictions.
GENE THERAPY: The Chinese, as well as the Japanese, find it difficult to metabolise alcohol. Such a genetic prediposition means that there are substantially fewer alcoholics in these races. Scientists are now studying how small genetic differences could point the way towards the treatment of alcoholism.
Said an expert in the field, Professor Jay Tischfield of Rutgers University in the United States: 'Nobody's suggesting that we're not responsible for what we do. With proper support, motivation and will power, most people can stop drinking. It may just be easier for some to do so.'
The adviser to Singapore's Institute of Molecular and Cell Biology and scientific advisory board member of the Genome Institute of Singapore is one of more than 80 speakers sharing their expertise at the Human Genome Organisation (Hugo) Pacific Meeting and Asia Pacific Conference on Human Genetics which began yesterday at research centre Biopolis in Buona Vista.
More than 700 scientists from all over the world have gathered to find out the latest on the impact genomics has on the understanding of the human condition and human disease at this four-day event.
Speaking to The Straits Times, the professor, who has helped shape Singapore's scientific direction over the last 16 years, predicted that within the next decade, breakthroughs in learning about genetic differences in various groups of alcoholics - now a field in its infancy - could dictate treatment regimes.
Already, new treatments are pointing in that direction, since any one drug may work only on a fraction of people.
For example, one drug - Naltrexone - seemed to help some alcoholics by blocking off receptors in the brain which made drinking pleasureable. It failed on others whose genetic makeup differed slightly.
Close to one in 10 people in some countries is an alcoholic - a huge public health problem second only to smoking.
Some races however, including the Chinese and Japanese, have substantially fewer alcoholics because of genetic differences which make it hard for them to metabolise alcohol.
To develop effective treatments, an eight-university consortium in the US - the Collaborative Study on the Genetics of Alcoholism - of which the professor is a key member, is studying thousands of alcoholics and their families.
It is collecting blood samples and doing extensive tests on them, and looking at common genetic links in an effort to uncover the biological underpinnings of alcoholism.
So far, it has helped identify a number of genes which seem to play a role in alcoholism, and genetic variations which predispose individuals to this.
Ironically, tests have also shown that alcoholics are less impaired by constant drinking than others.
Said Prof Tischfield: 'The people who are lucky are the ones who become hopelessly drunk and throw up.
'They are less likely to become alcoholics.' -- CHANG AI-LIEN
Colon Cancer Linked To Genes, Not Lifestyle
MADISON - Colon cancer and many other geriatric diseases in primates appear to be natural outcomes of aging, rather than being caused by outside factors, a scientist at the University of Wisconsin-Madison has found. The findings, reported recently in Age and The American Journal of Primatology, adds to evidence that how we age may be linked more to our genes than our lifestyle.
"The simple lives of captive-born, aged rhesus monkeys result in minimal or no exposure to the varying environmental and lifestyle factors that affect humans," said Hideo Uno, senior scientist at the Wisconsin Regional Primate Research Center and adjunct professor of pathology and laboratory medicine. "Yet the monkeys still get many of the same geriatric diseases people get."
From 1980 to 1994, Uno compiled autopsy data from 175 monkeys, all aged 20 to 37 years, roughly the equivalent of people in their 50s to 80s. The animals, which were used for breeding rather than scientific experimentation during their lifetimes, either died spontaneously or were euthanized due to severe illness.
Autopsy data revealed that most of the diseases appeared to be brought on by old age and predisposing genetic factors, versus environmental or lifestyle factors. Colon cancer, coronary sclerosis, degenerative joint disorders, and cerebral amyloid plaque (a component of Alzheimer's disease), were among the disorders, Uno said.
Despite a simple diet of high-fiber monkey chow and fruit, a relatively nonstressful environment, lack of exposure to known carcinogens, and good veterinary care-old monkeys often get colon cancer, Uno discovered. "As in humans, the incidence of colon cancer dramatically increases with aging," he said.
Colon cancer is the third most common cancer in men, following prostate and lung cancer, and the third most common in women, following breast and lung cancer. In captive rhesus monkeys it appears to be the most common.
Uno's data did show, however, that certain other geriatric diseases are much less common in monkeys than in humans. "Lung and prostate cancers in elderly people are extremely common, for example, but those two cancers are very rare in our monkeys."
Rhesus monkeys share 93 percent of the human genome, which makes them the prime animal model for researchers seeking answers to human diseases like cancer, AIDS and diabetes.
"We have only now been able to study colon cancer and other aging-related diseases more closely in monkeys and compare it to that in humans," said Uno. "Few populations of aged monkeys were in captivity up until about 15 years ago."
Uno said the data will be valuable to scientists working on preventive or experimental studies related to geriatric diseases in humans.
The UW Primate Center is one of seven primate research centers in the U.S. supported by the National Center for Research Resources at the National Institutes of Health. It is a base for local, national and international research in biomedicine and conservation biology and has an annual operating budget of approximately $25 million.
Last Updated Fri Jul 14 07:40:22 2000
STOCKHOLM - Researchers say our genes cause more cancers than they thought but environmental factors are still the bigger cause.
Scientists used to think that our genes were responsible for causing about 10 to 20 per cent of cancers.
But a new study by researchers in Scandinavia says genes increase the risk of getting prostate cancer by 42 per cent, 35 per cent for colorectal cancer and 27 per cent for breast cancer.
The researchers, led by Paul Lichtenstein at the Karolinska Institute in Stockholm, examined the role of genes and cancer in 44,788 sets of twins in Sweden, Denmark and Finland.
They found identical twins have a greater chance of developing the same cancer than fraternal twins. That's because identical twins have identical sets of genes while fraternal twins are no more alike than other siblings.
Scientists expect the recently-completed human genome map will lead to cures for genetic diseases.
Cancer that isn't inherited is caused by environmental factors, like what we eat, where we work and whether we smoke.
The team's study appears in Thursday's New England Journal of Medicine.
The Scandinavian team limited its study to the three most common types of cancer but hope to expand the study to include 10 more types of cancer as more information becomes available."
Breast Cancer Genes and Inheritance
Breast cancer is the most common cancer that affects women in the United States. There are at least two majors genes (BRCA1 and BRCA2) that when they mutate can cause breast cancer. These genes can be passed from parent to child, increasing the risk of developing cancer in those child that have parent carrying these genes. BRCA1 and BRCA2 genes are located on chromosome 17 and chromosome 13 respectively. There is a 90% chance of developing breast cancer for a woman that has these mutated genes. In contrast, men carrying BRCA1 have no risk to develop breast cancer, but those carrying BRCA2 genes have high risk. It is important to note that mutations in these genes can be passed on to children by either parent. A man with a mutation is just as likely to pass this gene to his children as a woman with a mutation. Hereditary cancer occurs at young age, for instance a woman in her 20's with breast cancer is more likely to have hereditary type of cancer that a woman in her 50's. (http:www.familycancer.org/FamHist.stm)
BRCA1 and BRCA2 are tumor suppressor genes, these genes also called "Anti- Oncogenes" which normally are involved in regulating cell growth, the proteins inhibit the proliferation of cell, which is crucial for the normal cell development and differentiation. (Britanica on line).
Since the discovery of the BRCA1 and BRCA2 in 1994 and 1995 about 80% of the women who inherit mutated forms of these genes will develop breast cancer in their lifetime, usually at relatively early age and woman with BRCA1 mutations have a high risk of developing ovarian cancer as well.
Kudson in 1971 proposed a two-mutation theory of cancer causation. His theory stated that all cancer are of two kind, hereditary and sporadic In the case of hereditary cancer, at the time of fertilization, the zygote (the fertilized egg) receives a imperfect copy of a gene (mutation). Subsequently, each cell that develops from the fertilized egg will receive this mutated gene. He states that for a cancer to manifest, two mutations must occurs. In hereditary cancers, the person inherit one mutant gene. The second mutation occurs as result of a mitotic error during the many cell division that occurs in the person's lifetime. In sporadic cases both mutation occur in the person's lifetime. In sporadic cases both mutation occurs after fertilization an are acquired much later in life. From this Kudson conclude that hereditary cancers manifest at younger age and there is a higher incidence of multiple tumors, where sporadic cancers occur late in the life and usually only a single tumor occurs. The principal causes of cancer appears to be environmental agents. A good example of this is skin cancer. The condition has increased among fair skinned people who expose themselves to too much sunshine, while being very uncommon among dark skinned races (knudson 1971, cited in Ormiston, 1995). Therefore, most genetic alteration are acquired through our life time from environmental carcinogens with only a small percentage been inherited. However, inherited cancers are very important as it appears that the genes responsible for, hereditary cancer maybe the same as those involved in sporadic malignancies.
There are two important type of genes responsible for the development or cancer namely tumor suppressor because their normal function is to suppress cell growth. The inactivation of these genes lead to uncontrolled cell growth. The oncogenes are responsible for the promotion of cell growth. Mutation of these genes cause a uncontrolled growth. The development of cancer due to an inherited risk is not though to occurs through this mechanism (Ormiston, 1995).
In September 1994, a new breast cancer susceptibility gene. BRCA2, was identified on chromosome 13q and BRCA1 on chromosome 17q, which had been identified in 1990, was sequenced. Given the current stage of knowledge it is felt that these two genes together account for at least two thirds of familial breast cancer or roughly 5% of all cases. BRCA1 is also associated with the predisposition to ovarian cancer. Analysis of more than 200 families worldwide has shown that the BRCA1 gene is probably linked to on third of families who present with multiple cases of breast alone, but more than 80% of families in which there are both breast cancer and ovarian cancer.. The life time risk of breast cancer in BRCA1 mutations carriers is about 70% by the age 70 years. In ovarian cancer the lifetime risk is approximately 40%. BRCA1 is believed to be a tumor suppressor gene (Ormitom, 1996).
BRCA2 is believed to be equal in importance to the BRCA1 gene. There are however, differences in these genes. The high incidence of ovarian cancer-linked to the BRCA1 gene, but the BRCA2 gene is associated with very low incidence of ovarian cancer. No male breast cancer cases have been seen in the BRCA1 family sets, whereas several cases are present in the BRCA2 families. To date linkage of these two genes has not been proven for all families with inherited predisposition to breast cancer, so further genes conferring inheriting risk remain to be discovered (Brody and Bowles,,1998).
Breast cancer is far the most frequently diagnosed neoplasm in women. Each year, over 186,000 new cases and 46,000 death are reported in the United states alone. The majority of breast cancer diagnosis occurs late in life (postmenopausal) and no strong inheritance factor or gene mutation are present. A number of risk factors for the development of breast cancer have been identified. Non-genetic risk factors include age of menarche, menopause, and first child birth. Early parity and menopause appears to decrease risk, while early menarche correlates with an increased risk. Risk is also found to increase with a positive breast cancer family history, presumable due a genetics factors. Mutation in susceptible genes of high penetrance such as BRCA1 and BRCA2 is estimated to account for 3% to %5 of all breast cancer. It is now estimated that two independent loci, BRCA1 and BRCA2, are likely to account for the majority of inherited cancer cases. In this case cancer susceptibility is inherited in autosomal dominant manner. Men and woman who carry a mutation in one of these genes have a 50% chance of passing it on to each of their children (Brody and Bowles,,1998).
Initial penetrance estimates for BRCA1 and BRCA2 mutation have been generated from high risk families. Data from the breast cancer Linkage Consortium families predict that woman carrying a BRCA1. Mutation have approximately an 80% lifetime risk of breast cancer . Even though this estimates are corrected, it is possible that penetrance of mutation in the context of high risk families is influenced by other factors. Accurate penetrance estimates are important component in the process of clinical risk assessment . Knowledge of factors that modify penetrance will be require before risk reduction and cancer prevention treatments designed to BRCA1 and BRCA2 mutation carriers can be developed. (Brody et al., 1998).
Allan Bradley' group at Baylor college of Medicine in Houston, report evidence that the protein made by BRCA2 play a critical role in enabling cells to repair their DNA when it damaged. The group find, for example, the BRCA2 binds to a known repair protein called RAD51, There has been another report that suggests BRCA1 protein also associates with these proteins. Possibly both genes are part of the same DNA repair pathway. The genes were originally considered to be classical tumor suppressor, which normally hold cell growth in check and which, if inactivated, can lead directly to cancer. But the new work suggests the mutations act indirectly, by disrupting DNA repairing and allowing the cell to accumulate mutations including those that foster cancer development (Science vol.276, 1997).
BRCA1 and BRCA2 are unrelated at the sequence level, recent research has reveal similarities between them. First, both contain a region that can act as a transcriptional activation domain when is it fused with the DNA binding domain from another gene. Naturally occurring mutation found in both BRCA1 and BRCA2 in breast cancer families can compromise this transcripcional activation. As a transcriptional factor are often found among the gatekeeper class of cancer (Gatekeeper are genes that directly regulate the growth of tumors by inhibiting growth or promoting death.) This properties indicates that BRCA1 and BRCA2 may directly control cellular proliferation. Moreover, BRCA1 can inhibit the growth of cell in which it is over expressed. There is also a link between an inhibitor of cell cycle dependant kinase and the BRCA1 protein.
The second similarity is that both BRCA1 and BRCA2 bind to Rad5 protein that is involved in maintain the integrity of the genome (Kinzler et al, 1997).
A mutation in the AT, or ATM, gene on chromosome 11 also is associated with breast cancer, and it may be much more common in the general population than BRCA1 or BRCA2 mutations. Seven percent of familial breast cancer may be associated with the AT gene mutation (Radford and Zehnbauer, 1996, cited in McCain, 1997). It is not known whether the AT mutation increases the risk of breast cancer for men. Ataxia teleangiectasia is an autosomal recessive neurologic syndrome. The cancer incidence among those people who inherit two copies of the AT mutation, and who are affected by Ataxia teleangiectasia syndrome, is 100 times greater that the general population. Women who have inherited one copy of the mutation (approximately 1.4% of the general population) may be more susceptible to breast cancer.
Women with mutations in the p53 gene also may be at increased risk of developing breast cancer. However, mutations of the p53 gene are rare, affecting an estimated 1 in 10,000 individuals (Athma et al., 1996 cited in McCain, 1997).
Mutations in HRAS1, the Cowden disease gene, p65, and TSG101 may also confer a higher risk of developing breast cancer (Easton et al., 1993; Krontiris et al., 1993; Greene, 1997 cited in McCain, 1997).
BRCA1 and BRCA2 mutations and breast cancer seem to be distributed among a variety of populations. Several studies indicate that the Ashkenazi, a population of Eastern European Jews, may have a higher proportion of BRCA1 and BRCA2 mutations than the general U.S. population (Struewing et al., 1997; Levy-Lahad et al., 1997; Egan et al., 1996). ( Britanica on line).
Recently, it was discovered that in the Ashkenazi Jewish population a single BRCA1 mutation called 185delAG is commonly seen in breast and ovarian cancer families. Preliminary studies have shown that about 1% of Ashkenazi Jews carry the 185delAG mutation. This genetic alteration has been estimated to account for 20% of cases of breast cancer and 39% of ovarian cancer diagnosed in Jewish women before age 50. In addition, two other BRCA1 mutations, 188del11 and 5382insC, seem to be overrepresented in the Ashkenazi Jewish population.
A specific mutation in BRCA2 (6174delT) has been identified in Ashkenazi Jewish women with early onset breast cancer. The 6174delT BRCA2 mutation is approximately as common as the 185delAG BRCA1 mutation, and the 5382insC mutation is about half as frequent as the 185delAG. These results indicate that approximately 1 in 40 Ashkenazi women may carry one of these three BRCA mutations. This current data also implies that hereditary breast cancer may account for at least 15-20% of all breast cancer in Ashkenazi Jewish women.
A recent multi-institutional study of 235 Jewish individuals from families with high frequencies of breast or ovarian cancer found either the 185delAG, 5382insC or 6174delT mutations in 43% of patients. Even more remarkable are data regarding a series of Ashkenazi women with ovarian cancer who were NOT selected for family history, age or other criteria. Results of DNA testing for 185delAG, 5382insC or 6174delT showed that 36% of these women were positive. This information, along with other data, indicates that genetic testing for mutations of BRCA1 and BRCA2 has a significant role in clinical management and counseling of high risk Ashkenazi Jewish families.(http://www.givf.com/brca1.html).
It is generally accepted, that woman who are at increased risk of hereditary breast cancer require intensive surveillance. Mammography and annual clinical breast examination is standard practice from age 35 years onward or from 5 years before the earliest onset of breast cancer in family (Evans et al 1994). However is unclear if mammography in women under the age of 50 year is effective because of the increased density of the breast tissue in premenopausal women. There is concern also about the accumulative radiation dose with repeated scan in women already genetically predispose to breast cancer. Clinical and breast self examination are recommended. (Ormison, 1996)
Another drastic attempt to reduce the risk of breast cancer to woman who have very high risk of the disease is bilateral prophylactic mastectomies, but there is no epidemiological data which supports the theory that removing breast tissue and ductal cells completely removes the breast cancer risk. The best clinical management involves asking the woman concerned to consider several factor in making a choice for or against surgery. These include her individual risk, how difficult her breasts are to examine by mamography and physical examination, and her attitude to living with extremely high risk, versus the emotional and physical consequences of breast surgery with unknown remaining risk.
There may be a genetically inherited component to some breast cancers. For example, inherited genetic mutations to BRCA1 and BRCA2 seem to confer an increased risk to developing breast cancer for some people. However, not all familial breast cancer is inherited. In fact, inherited genetic mutations may contribute to only 5% to 10% of all breast cancers. Nor does the presence of genetic mutations accurately predict the development of breast cancer, when cancer might occur or with what severity. Families also share many environmental and cultural similarities that may affect their risk of developing breast cancer and other diseases. Medical researchers don't know all the factors that contribute to developing cancer but have isolated some potential risk factors (besides genetic mutations) that appear to increase the chance of developing cancer. These include a diet high in fat and calories, smoking, exposure to environmental toxins and pesticides, exposure to various hormones, lack of exercise, exposure to sunlight, and some other kinds of radiation. Like genes, cultural behaviors are passed on from generation to generation within families. Our patterns of diet and exercise are good examples. Members of families live together in the same community, sharing the same water supply, foods and environmental exposures. Breast cancer may result from a combination of two or more of these cultural and environmental factors, or in combination with certain genetic mutations. The occurrence of breast cancer in families also can be coincidental.
The interaction between cultural behaviors, the environment and a person's genetic makeup makes it difficult for health-care professionals to determine what part genetic mutations play in understanding how breast cancer can develop in several members of the same family. Researchers hope the social and medical sciences working together will be better able to explain the interaction of genes, culture and environment in the near future. The prevention and treatment of breast cancer will depend upon the knowledge provided by both sciences. (http://www.ncgr.org/gpi/odyssey/BCAN2/fambc.html).
Soon after the discovery and cloning of the BRCA1 and BRCA2 mutations, companies and research laboratories began offering genetic testing for people interested in knowing whether they were carriers of these mutations. However, genetic testing for BRCA1 and BRCA2 is controversial. Tests may not provide information useful to test recipients; they cannot predict who will get breast cancer or how severe its manifestations might become. Tests can tell the customer whether he or she carries the mutation, but what preventive treatments are available?
Information from tests can do more harm than good. Clients who discover they have a mutation can be vulnerable to insurance and employment discrimination. They may also experience depression and other psychological and social stress while waiting to see whether the disease develops and the disease may never develop.
For these reasons, many groups and individuals oppose genetic testing for breast cancer mutations. Supporters believe these concerns can be minimized if potential consumers are educated about the limits of tests and their potential consequences. In most cases, tests are offered only to people with strong family histories of breast cancer who have undergone pre-test counseling and education ( http://www.ncgr.org/gpi/odyssey/BCAN2/gtest.html).
I think the genetic counseling is a way to understood the nature of the disease, severity, prognosis and, whether or not there is an effective therapy, but the amount of information need it depend of each person. The alternative of breast cancer gene testing should be offered only a woman with a strong family history of breast cancer, because if she carries the mutation will benefit from a strict surveillance and monitoring or from a bilateral mastectomie, and also avoid in same degree the pain suffered by her relatives that were not diagnosed earlier in their life.
I believe that one of the most difficult thing in life is confront our own mortality and this test make us aware of it. But also provide the relief from anxiety if the result is negative, but if the opposite result means that is a high probability to develop cancer and also pass the defective genes onto our children, and take a lot of courage to overcame the negative attitude that the result can lead.
1.-Brody L., and Bowles B., 1998. Breast cancer susceptible genes BRCA1 and BRCA2. Medicine 77:208-26.
2.-Ormiston W. 1995. Hereditary breast cancer. European Journal of Cancer Care. 5, 13-20
3.-Social and Ethical issues of breast cancer gene testing. Obtain from http://www.ncgr.org/gpi/odyssey/BCAN2/gtest.html 10/29/98
4.-Kinzler, Kenneth W., and Vogelstein, Bert. 1997. Breast cancer susceptibility genes BRCA1 and BRCA2. Nature. V. 386. 761-763.
5.-Marx, Jean. 1997. Possible function found for breast cancer genes. Science vol.276. 531- 532.
6.-McCain, L., and Dilligham, C., 1997. Genetics Mutation Associated with Breast Cancer . Obtain from http://www.ncgr.org/gpi/odyssey/BCAN2/genrisk.html 10/12/98
7.-Tumor suppressor gene" Obtain from http://www.eb.com:180> 10/19/98, search word: tumor suppressor gene.
8.-Breast and/or ovarian cancer risk in Jewish women: Role of the 185delAG and other mutations in the BRCA1 and BRCA2 genes. http://www.givf.com/brca1.html 10/12/98.
Student Essay List
Two Genes Cause Colon CancerBy Thomas H. Maugh II
Los Angeles Times
With the discovery of a second colon cancer gene, researchers reported Wednesday that they now have identified the causes of more than 90 percent of the inherited form of the disease.
Together, the two genes are responsible for one in every six of the 156,000 new cases of colon cancer diagnosed each year. They also appear to account for as many as 30 percent of sporadic (noninherited) cases of colon cancer.
Researchers expect within a few months to develop diagnostic tests that will show whether an individual has either gene. If one of the genes is present, doctors can monitor for tumors frequently, enabling their detection while they are still curable by surgery.
"We can reduce cancer deaths in these families by over 90 percent," said Dr. Bert Vogelstein of Johns Hopkins University, a co-leader of one of the two groups that report the discovery Thursday in the British journal Nature and Friday in Science.
The discovery could also lead to new anticancer drugs within three to five years, predicted microbiologist Richard Fishel of the Unversity of Vermont, a leader of the team that reported its findings in Nature. "I am very confident that in short order we will be able to develop appropriate therapeutics based on our knowledge of these genes," he said.
The same two teams reported the discovery of the first colon cancer gene in December.
Both genes, which are found on different chromosomes, act like the spell-check function in a word processing program, checking newly synthesized DNA to ensure that no mistakes -- mutations -- occur during cellular proliferation. When either gene is defective, "You accumulate these alterations at an extremely high rate and cancer is the result," said Fishel. Inherited colon cancer usually strikes before the age of 50.
"This is a great triumph for science," said Department of Health and Human Services Secretary Donna E. Shalala. "These discoveries ... will lead to screening tests for high-risk individuals soon. Doctors will be able to save countless lives and prevent much needless suffering."
But Shalala raised the concern, shared by the researchers, that screening for the impaired gene could hinder the ability of people who have the gene to purchase health insurance. Because virtually everyone who has the gene will develop cancer, carriers might be excluded from coverage. About one in every 200 people has one of the defective genes, Vigelstein said, making it the most common genetic defect in the world.
Copyright 1994,95, The Tech. All rights reserved.
This story was published on March 18, 1994.
Volume 114, Number 15.
This story appeared on page 3.
This article may be freely distributed electronically, provided it is distributed in its entirety and includes this notice, but may not be reprinted without the express written permission of The Tech. Write to email@example.com for additional details.
CELINE THRILLED BY MADONNA LINKS
Canadian pop superstar CELINE DION is hoping to make the most of reports she's related to MADONNA by inviting the MATERIAL GIRL to join her onstage in Las Vegas, Nevada.
The singer is fascinated by historical links to Madonna's family, and she's keen to team up with her distant relative for one of her shows at CAESAR'S PALACE.
She says, "I don't know if it's true, but we can have both of us on the show and sing. My parents have 14 kids, maybe they had 15."
Madonna, Celine Dion, and Camilla Parker-Bowles: Relatives
– Dick Eastman
What do pop queen Madonna, Canadian singer Celine Dion, and the Prince Of Wales' mistress Camilla Parker-Bowles have in common? One genealogist claims that they are all related.
American genealogist William Addams Reitwiesner has found that Bowles' great-grandparents from nine generations ago were also ancestors of the two singers. The relevant individuals, all French-Canadians, lived in the seventeenth century.
Camilla and Madonna are both descended frpm Zacharie Cloutier (1617-1708), while Camilla and Celine descend from Jean Guyon (1619-94) - both of whom died in Chateau-Richer, Quebec.
You can see William Addams Reitwiesner’s work at: members.aol.com/eurostamm/camilla.html.
You can also view Madonna’s ancestry on Genealogy.com’s website. In fact, you can even download a GEDCOM file from that site to your hard drive and then import that data directly into your Windows or Macintosh genealogy program. That certainly saves a lot of manual typing. Look at www.genealogy.com/famousfolks/madonna/index.html for details.
NOTE: All of the information presented on the webpages mentioned is offered on an "as is" basis. Accuracy of the information is not guaranteed by anyone. As with any genealogy information, it is up to you to verify the accuracy of the data by independent means.
By the way, the writer of this newsletter is also descended from both Zacharie Cloutier and Jean Guyon. In fact, almost everyone with French-Canadian ancestry can find these two men in their family trees as well. If you can find these two men in your family tree, you, too, are a distant cousin of Madonna, Celine Dion, and Camilla Parker-Bowles.
George fattens up; Victoria switches careers; John plays it safe.
By Bill Picture | Staff Writer
Published on Friday, October 22, 2004
E-mail this story | Print this page
A genealogist from My-Family.com claims he can prove that Madonna and Celine Dion are related. Troy Dunn told 'The View' that the two singers are distant cousins and said he tried to contact both women with the surprising news. 'Madonna's people had no comment,' he said. 'Celine's people were horrified.'"