From medicine to science

When I was about 3 or 4 years old, I got very sick. I stayed in bed for many weeks and every day a nurse would come to give me a penicillin shot. The pain from shots turned into fear, in time fear turned into a plan for revenge. When I got better I demanded to have my own syringe and cruelly treated all teddy bears and dolls. If they didn’t look sick I made them sick, just to perform surgeries, sew wounds and give shots. I even offered my service to family members; unfortunately, they stubbornly kept on being healthy.

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Some 3.2 million Americans have chronic hepatitis C , an infection that can linger in the body for years before producing symptoms. It can eventually lead to serious liver scarring and cancer. And most infections in the U.S. are the disease's particularly tough breed, known as genotype 1, which has a cure rate of less than 40 percent with the best current treatment. [More]

Poor sanitation can foster transmission of all sorts of nasty bacterial bugs. But a new study has found that among common bacteria, antibiotic resistance is brewing in the New Delhi water supply--and spreading in at least 20 strains, including some that cause dysentery and cholera. [More]

The underpinnings of autism are turning out to be even more varied than the disease's diverse manifestations. In four new studies and an analysis published June 8 researchers have added some major landmarks in the complex landscape of the disease, uncovering clues as to why the disease is so much more prevalent in male children and how such varied genetic mutations can lead to similar symptoms. [More]

When Jim Laidler’s oldest son, Benjamin, was diagnosed with autism, he and his wife started looking for help. “The neurologists were saying, ‘We don’t know what causes autism, and we don’t know what the outcome for your son will be,’” Laidler relates. “No one was saying, ‘Here’s what causes it; here’s what treats it.’”

But when the Laidlers, who live in Portland, Ore., searched the Web, they found dozens of “biomedical” treatments that promised to improve or even cure Benjamin’s inability to talk, interact socially or control his movements. So the parents tried them on their son. They began with vitamin B6 and magnesium, the nutritional supplements dimethylglycine and tri­methylglycine, vitamin A, gluten- and casein-free diets, the digestive hormone secretin, and chelation, a drug therapy de­signed to purge the body of lead and mercury. They applied the purported treatments to Benjamin’s little brother, David, who also was diagnosed with autism. Chelation did not seem to help much. Any effect from secretin was hard to tell. The diets showed promise; the Laidlers hauled special food with them everywhere. And Mom and Dad continued to feed the boys dozens of supplements, calibrating doses up and down with every change in behavior.

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To celebrate the ends of years, decades and other milestones, science publications often churn out "Whither science?" predictions. Just last week, The New York Times Science Times section celebrated its, um, 32nd birthday with a special issue on "What's next in science". What I found fascinating was the issue's overall tone of caution rather than the traditional boosterish enthusiasm.

Gina Kolata recalled a job interview 25 years ago with U.S. News and World Report, an editor of which asked her, "What will be important medical news next year?" Kolata replied that "next year gene therapy will be shown to work." Gene therapy, of course, has been a big bust. Kolata goes on to say that the best answer to "Whither science?" is to expect the unexpected. (Fortunately for her, Kolata didn't get the job with what a mean friend of mine liked to call "U.S. Snooze and World Distort," the print version of which just died after years of terminal illness.)

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Down's syndrome (DS) is an incurable, heritable disorder affecting an estimated 400,000 people in the U.S. It is characterized by impaired cognitive ability and abnormal physical growth. Whereas scientists have long known that DS is caused by inheriting an extra copy of all or part of chromosome 21 , the underlying cause of the brain defects common in Down's patients has not been fully gleaned.

Now, a collaborative team of scientists working with a mouse model of DS has discovered that just two genes are responsible for the majority of the brain abnormalities present in their animals. The scientists hope that their findings will help scientists understand brain defects in humans with the disorder as well as aid in the development of drugs to treat the cognitive impairment in Down's patients.

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Genetic disorder - Health - Conditions and Diseases - Gene - Brain

Realistic stem cell therapies to replace diseased or damaged tissue may still be years away, but researchers have uncovered a promising new use for these undifferentiated cells: they can be programmed to become patient-specific laboratory models of inherited liver disease. These new tools could be useful for teasing out disease mechanisms and testing new drug therapies.

Scientists from the University of Cambridge's Institute for Medical Research obtained skin cells from 10 patients--seven who had various forms of inherited liver disease, and three healthy controls. They reprogrammed the skin cells, rejuvenating them into an embryolike state (using the four-gene approach described in 2007). The researchers then cultured these so-called induced pluripotent stem cells (iPS cells) in a mixture of chemical factors that triggered their conversion into liver cells, which had the appearance and functional properties of native liver cells.

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Stem cell - Cambridge University - Liver - Medical Research - Disease

Schizophrenia involves some of the same genetic variations as autism and attention deficit disorders, a new whole-genome analysis study has confirmed. [More]

For those of you who like stories with simple plots and tidy endings, I must confess the tale of the Human Genome Project isn't one of those. The story didn't reach its conclusion when we unveiled the first draft of the human genetic blueprint at the White House on June 26, 2000. Nor did it end on April 14, 2003, with the completion of a finished, reference sequence. [More]

Human Genome Project - White House - Biology - genetic - Francis Collins

It turns out that not all the hairlike cilia projecting from the surfaces of many cells in the human body are equal--there are the myriad ones for sweeping, swimming and other functions, and then there is the until recently mysterious primary cilium.

Nearly all human cells contain these numerous microscopic projections. The more abundant variety of cilia are motile; they act like oars, paddling in coordinated waves to help propel cells through fluid, or to sweep material across cellular surfaces (as in the respiratory system, where millions of cilia lining the airways help to expel mucus, dead cells and other bodily debris). By contrast, cells also contain a single, nonmotile cilium known as the primary cilium. Its presence on cells has been known for more than a century, but many believed it was a functionless evolutionary remnant.

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Cell - Biology - Cell biology - Cilium - Human body

Editor's Note: This is an expanded version of the Q&A that will appear in the November 2010 issue of Scientific American.

Name: Greg Graffin [More]

Greg Graffin - BadReligion - Punk rock - Punk - Shopping

SAN DIEGO-- On day two of TEDMED , running between Oct. 27 and 30, three themes stood out: the difference between children and adults for therapies; the connection between animals, people and disease; and how genetics will shape health care.

Frances Jensen of Harvard University and Children’s Hospital Boston explained the dramatic differences between developing and adult brains. With faster synapses, teens learn faster than adults, for instance. But as a consequence, they also "get addicted faster, longer and stronger than adults do," she said. Because teens have more synaptic material to affect, they suffer greater brain damage from alcohol than in adults. Differences in developing brain mean should have "no more hand-me-down drugs" for youths, added Jensen.

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By Ewen Callaway of Nature magazine

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Editor's Note: Read our blog series on psychiatry's new rulebook, the DSM-5.

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I stared at my desk incredulously, not a pen in sight.  In fact, I scoured the office up and down for minutes without luck.  Apparently, I wouldn't be able to write that all important script. One could conclude from this exercise that my office staff needs to better monitor our supply reserves.  Or, one could draw the conclusion that physicians are greedy, overpaid, untrustworthy scoundrels.

That's right, doctor's used to suck on the teet of big pharma by taking advantage of their logo bearing gifts of writing utensils.  Yet, some genius in the government decided that such influence was affecting prescribing patterns and unethical.  Unethical?

Wake up America!

Has anyone looked at the government lately.  How do you think congressman and ...

Source:
http://www.medworm.com/rss/medicalfeeds/therapies/Gene-Therapy.xml

NOVEMBER

4–5 According to the World Health Organization, one in four of us will develop at least one mental illness or behavioral disorder in our lifetime. Depression alone affects an estimated 121 million people worldwide. At the two-day EMBO/EMBL Science and Society Conference , biologists, psychologists and neuroscientists will explore the ethical and social implications of major mental illnesses as well as their causes and treatment. Attendees will debate the definitions of mental disorders, financial interests in the refinement of both diagnoses and drugs, and controversial new therapies, among other topics. [More]

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The patient had endured 20 years of pain: her calves had turned into two bricks,  and she now had trouble walking. A slew of doctors had failed to treat, let alone diagnose, her unusual condition. So when her x-rays finally landed on William A. Gahl’s desk at the National Institutes of Health, he knew immediately that he had to take her case.

Gahl is the scientist and physician who leads the Undiagnosed Diseases Program, which tries to unravel the underlying causes of, and find therapies for, mysterious maladies and known but rare conditions. Louise Benge’s x-rays had revealed that blood vessels in her legs and feet bore a thick coat of calcium that restricted blood flow. Benge’s sister, Paula Allen, along with several other members of the family, also shared the disorder. Over the course of several months Gahl identified the genetic root of the disorder--a mutation in a gene that regulates calcium--and he went on to propose a treatment with drugs already on the market. He continues to assess the treatment’s value.

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Steve Jobs was a rare case, right down to his death. Announced Wednesday, Jobs's death from "complications of pancreatic cancer" only hints at the vast complexity of the disease to which he succumbed at the age of 56. [More]

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Exact details of the alternative natural and traditional therapies tried by Steve Jobs before he underwent surgery in 2004 and eventually died of pancreatic cancer earlier this month have not been disclosed. (A representative from Apple declined to comment on any aspect of the Apple co-founder's illness.) He reportedly restricted his diet to just fruits or just fruits and vegetables, tried out something called hydrotherapy and consulted psychics. In any case, a mounting body of scientific and anecdotal reports provides compelling evidence about the potential impact, both positive and negative, of so-called complementary practices on the health and longevity of cancer patients following their diagnosis. And, although Jobs's unconventional early-treatment choices may not have done much to stave off the spread of deadly cancer cells in his case, they provide an opportunity to discuss what makes cancer grow and how to stop it.

Jobs had a rare form of pancreatic cancer known as pancreatic neuroendocrine tumor (pNET). Accounting for about 1 percent of all pancreatic cancers, pNET is a cancer of the endocrine cells, known clinically as the islets of Langerhans, which exist in small clusters throughout the pancreas. These cells produce hormones such as insulin, which lowers blood sugar, and glucagon, which increases it.

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