As much as I love the science of genetics, none of it matters except for the people. Some people clearly have it worse than others.
In the Negev desert south of Israel bordering Gaza, Bedouins are suffering from genetic diseases at a higher rate than the average population because of their tradition of marrying first or second cousins.
Bedouins do not carry more genetic mutations than the general population. But because so many marry relatives — some 65 percent of Bedouin in Israel’s Negev marry first or second cousins — they have a significantly higher chance of marrying someone who carries the same mutations, increasing the odds they will have children with genetic diseases, researchers say. Hundreds have been born with such diseases among the Negev Bedouin in the last decade.
Over the past couple of years, researchers have identified eight genes not previously associated with disease as well as new mutations in other disease genes. Some of the diseases the Bedouins are currently experiencing:
Aplasia cutis - babies are born with no skin on their skulls
Neurological-spastic disease
Blindness
Severe mental retardation
Congenital insensitivity to pain with anhidrosis
Breaks my heart to think of these young children and their families suffering. Generations of inbreeding based on tribal custom and no knowledge of genetic consequences has come to a head. What’s the solution?
Genetic testing is being offered although the Bedouins mistrust it and the politics of the Middle East is preventing medical science from being offered freely and easily. Some, however, are willing to take the risk in order to have healthy children. Perhaps this is the turning of the tide.
This story makes me want to ask many questions, like how could genetics really do all that to you? It's crazy and kind of scary, because what if that starts happening more? I mean what do you do if a baby is born with no skin on his skull? Most of all why wouldn't the middle east want their children to be healthy? That's stupid if they are telling the people they will get killed if they get tested. I just don't understand any of that.
Aplasia cutis - babies are born with no skin on their skulls
Neurological-spastic disease
Anhidrosis-The lack of sweating
http://www.geneticsandhealth.com/2006/03/27/a-heartbreaking-story-about-genetics
Thursday, January 15, 2009
Friday, November 21, 2008
Stressed to Death: Mental tension ages cells
A new study puts evidence behind the old adage that stressful experiences can give a person gray hairs. Scientific data now indicate that prolonged psychological stress might cause a person's cells to age, and possibly die, significantly faster than normal.
Previous research had shown that protein-DNA complexes called telomeres serve as a cell's timekeeper, telling it how long to live. Telomeres protect the ends of chromosomes, much as plastic tips protect shoelaces. Each time a cell divides, enzymes chew off a tiny portion of its telomeres. When the caps are whittled down to nubs, cells cease dividing and soon die.
Scientists have long known that stress can harm a person's health by, for instance, lowering immunity or raising blood pressure. "We wanted to look at some of the molecular underpinnings of why that might be true. No one actually has clear ideas," says Elizabeth Blackburn of the University of California, San Francisco.
Blackburn and her colleagues examined whether telomeres might play a role. Her team recruited 58 healthy women between the ages of 20 and 50. While all the women were mothers of at least one child, 39 members of the group were primary caregivers for a child who was chronically ill with a disease such as cerebral palsy.
Each volunteer answered a questionnaire on how much day-to-day stress she perceived in her life. Not surprisingly, mothers with chronically ill children generally reported more stress than did women with healthy children.
Blackburn's team measured telomere lengths in immune cells called mononucleocytes collected from blood samples of each volunteer. The researchers also assessed the activity of an enzyme called telomerase, which maintains telomeres.
"There was a very striking connection" between stress and telomere length, Blackburn reports. Mothers who perceived their stress levels as high had significantly shorter telomeres and less telomerase activity than did women reporting lower stress. From the telomere lengths, the researchers estimate that cells from the highly stressed women resembled cells of low-stressed volunteers who were 10 years older.
The researchers aren't sure how stress affects telomere length and telomerase activity, but they speculate that chemicals known as free radicals might impede telomerase function. Further tests showed that women who reported higher stress also had more free radical damage to their cells than women under less psychological strain did.
The findings, to be published in the Dec. 7 Proceedings of the National Academy of Sciences, are "very provocative, in the best sense of the word," says Robert Sapolsky, a biologist at Stanford University. "This is very exciting because it ties in stress to, arguably, the best cellular pacemaker of aging out there."
Blackburn's results "make sense," says Fred Goldman, a pediatric oncologist who studies telomere biology at the University of Iowa in Iowa City. "We know that people who are stressed out look haggard. … If we have less stress in our lives, we might live longer."
Previous research had shown that protein-DNA complexes called telomeres serve as a cell's timekeeper, telling it how long to live. Telomeres protect the ends of chromosomes, much as plastic tips protect shoelaces. Each time a cell divides, enzymes chew off a tiny portion of its telomeres. When the caps are whittled down to nubs, cells cease dividing and soon die.
Scientists have long known that stress can harm a person's health by, for instance, lowering immunity or raising blood pressure. "We wanted to look at some of the molecular underpinnings of why that might be true. No one actually has clear ideas," says Elizabeth Blackburn of the University of California, San Francisco.
Blackburn and her colleagues examined whether telomeres might play a role. Her team recruited 58 healthy women between the ages of 20 and 50. While all the women were mothers of at least one child, 39 members of the group were primary caregivers for a child who was chronically ill with a disease such as cerebral palsy.
Each volunteer answered a questionnaire on how much day-to-day stress she perceived in her life. Not surprisingly, mothers with chronically ill children generally reported more stress than did women with healthy children.
Blackburn's team measured telomere lengths in immune cells called mononucleocytes collected from blood samples of each volunteer. The researchers also assessed the activity of an enzyme called telomerase, which maintains telomeres.
"There was a very striking connection" between stress and telomere length, Blackburn reports. Mothers who perceived their stress levels as high had significantly shorter telomeres and less telomerase activity than did women reporting lower stress. From the telomere lengths, the researchers estimate that cells from the highly stressed women resembled cells of low-stressed volunteers who were 10 years older.
The researchers aren't sure how stress affects telomere length and telomerase activity, but they speculate that chemicals known as free radicals might impede telomerase function. Further tests showed that women who reported higher stress also had more free radical damage to their cells than women under less psychological strain did.
The findings, to be published in the Dec. 7 Proceedings of the National Academy of Sciences, are "very provocative, in the best sense of the word," says Robert Sapolsky, a biologist at Stanford University. "This is very exciting because it ties in stress to, arguably, the best cellular pacemaker of aging out there."
Blackburn's results "make sense," says Fred Goldman, a pediatric oncologist who studies telomere biology at the University of Iowa in Iowa City. "We know that people who are stressed out look haggard. … If we have less stress in our lives, we might live longer."
This is pretty crazy to me because people thought that grey hairs were bad, now they have to think about death also! I would have never of guessed that stress could kill your cells and eventually yourself! It's mind-blowing
Tuesday, October 14, 2008
Ecology
Scientists agree that climatic events such as storms and heavy rainfall could become more intense as the climate changes. New research suggest that global warming not only increases the likelihood of such events, but also leads to heater extremes in rainfall, making moves to tackle global warming and implement measures such as improved flood defences increasingly important. Global warming is now taking place, and recent flooding and heavy rainfall in parts of Europe highlight the increasing frequency of extreme weather events. Scientific understanding of how rain and other precipitation forms is limited, as the ability to model these processes in global and regional climate models.
This is kind of frightening because the everyday items we use are causing things to fall apart, and if we keep using them just as much as we do now or even more than that, then the results will be disasterous. We should really watch what we do to make sure that it doesn't get to far out of hand, to were we can't change it back.
Friday, October 3, 2008
A real bionic women!
This story is about an ex-Marine who lost her arm in a motorcycle wreck. They failed to reconnect her real arm. So instead they attached a fake arm on her nub, along with her motor, and sensory nerves!
I think the story sounds pretty amazing! I just think that if we are doing this kind of stuff now just think about what's going to happen in the future! It's mind-blowing!
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