Scientific American Topic - Gene Therapy

How Has Stephen Hawking Lived to 70 with ALS?

Sat, 07 Jan 2012 06:00:00 EST

Stephen Hawking turns 70 on Sunday, beating the odds of a daunting diagnosis by nearly half a century. [More]

Baby Monkeys with 6 Genomes Are Scientific First

Fri, 06 Jan 2012 19:00:00 EST

They look like ordinary baby rhesus macaques , but Hex, Roku and Chimero are the world's first chimeric monkeys, each with cells from the genomes of as many as six rhesus monkeys.

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The Top 10 Science Stories of 2011

Thu, 22 Dec 2011 11:00:00 EST

Inevitably, year-end lists invite plenty of debate and criticism, and Scientific American 's is no exception. Certainly, we could have included the discovery of new worlds beyond our solar system, including Kepler 22 b, an exoplanet in the "Goldilocks" zone of habitability, as well as the first known Earth-size exoplanets . Or noted the accumulating evidence suggesting that hydraulic fracturing, or fracking, to retrieve natural gas is likely to contaminate water supplies. (Final New York State regulations, expected in mid-2012, could determine the future of fracking in the U.S.)

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He's No Gregory House--Which Is a Good Thing (preview)

Mon, 14 Nov 2011 09:30:00 EST

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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Calendar: MIND Events in November and December

Tue, 01 Nov 2011 09:00:00 EST

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]

Did Alternative Medicine Extend or Abbreviate Steve Jobs's Life?

Thu, 27 Oct 2011 08:00:00 EST

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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The Puzzle of Pancreatic Cancer: How Steve Jobs Did Not Beat the Odds—but Nobel Winner Ralph Steinman Did

Fri, 07 Oct 2011 07:00:00 EST

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]

Gene-Therapy Successes Spur Hope for Embattled Field

Thu, 25 Aug 2011 06:00:00 EST

From Nature magazine.

When it was first used in the 1990s to treat an immune deficiency, gene therapy -- treating diseases by correcting a patient's faulty genes -- was touted as a breakthrough that was likely to cure scores of hereditary diseases. But when 18-year-old Jessie Gelsinger died in 1999 after having a corrected gene injected to treat his liver disease, the field became wary, and researchers found it difficult to fix the problems associated with the technique. [More]

Studying Mental Illness in a Dish

Tue, 09 Aug 2011 07:00:00 EST

No organ in the human body is as resistant to study as the brain. Whereas researchers can examine living cells from the liver, lung and heart, taking a biopsy of the brain is, for many reasons, more problematic.

The inability to watch living human brain cells in action has hampered scientists in their efforts to understand psychiatric disorders. But researchers have identified a promising new approach that may revolutionize the study and treatment of conditions such as schizophrenia, autism and bipolar disorder. A team led by researchers at the Salk Institute for Biological Studies in La Jolla, Calif., took skin cells from a patient with schizophrenia, turned them into adult stem cells and then grew those stem cells into neurons. The resulting tangle of brain cells gave neuroscientists their first real-time glimpse of human schizophrenia at the cellular level. Another team, from Stanford University, converted human skin cells directly into neurons without first stopping at the stem cell stage, potentially making the process more efficient. The groups published their results recently in Nature ( Scientific American is part of Nature Publishing Group).

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A Breath of Fresh Air: New Hope for Cystic Fibrosis Treatment (preview)

Mon, 25 Jul 2011 08:00:00 EST

In 1989 when scientists discovered the defective gene that causes cystic fibrosis, a serious hereditary disorder that primarily strikes children of European descent, it seemed as though a long-hoped-for cure might soon follow. After all, tests in many laboratories showed that providing normal copies of the gene should enable patients to make healthy copies of the protein specified by the gene. If successful, that feat would go a long way toward restoring health in the tens of thousands of people around the world who suffered from cystic fibrosis and typically died in their late 20s. (Half of all patients now live to their late 30s or beyond.) The question was whether researchers would be able to reliably insert the correct gene into the proper tissues in patients’ bodies to rid them of the illness forever.

That task proved harder than anyone had believed. Although scientists successfully engineered viruses to ferry copies of the correct gene into patients’ cells, the viruses did not do the job well. By the late 1990s additional unexpected complications made it increasingly obvious that another approach to addressing the fundamental problem in cystic fibrosis would need to be found.

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New Report Details Uphill Battle to Solve the U.S.'s Pain Problem

Fri, 01 Jul 2011 17:30:00 EST

Chronic pain affects at least one in three adults in the U.S., which is more than the sum total of those with heart disease, cancer and diabetes combined. For many of these 116 million Americans, their pain is severe and eludes available treatments. In addition to the human suffering, the monetary cost of medical treatment and lost productivity has reached $635 billion a year. [More]

A New Look at Obsessive-Compulsive Disorder (preview)

Thu, 09 Jun 2011 10:00:00 EST

One day 12-year-old Elizabeth McIngvale became obsessed with the number 42, which happened to be her mother’s age at the time, 11 years ago. When she washed her hands, she had to turn the sink on and off 42 times, get 42 pumps of soap and rinse her hands 42 times. Sometimes she decided that she actually needed to do 42 sets of 42. When she dressed, she put her right leg in and out of her pant leg 42 times, then the left. Even getting up from a chair took 42 attempts. She was afraid that if she did not follow her self-prescribed ritual, something terrible would happen to her family--they might die in a car accident, for instance. “Everything I did was completely exhausting and grueling,” she recalls. “I was probably doing 12 to 13 hours a day of rituals.”

McIngvale was diagnosed with obsessive- compulsive disorder (OCD), a psychiatric illness that afflicts 2 to 3 percent of Americans, not all of them as severely as McIngvale. Individuals with OCD experience debilitating recurrent and persistent thoughts, or obsessions, which they try to suppress or eliminate with rituals, known as compulsions. Compared with people who have other anxiety or mood disorders, adults with OCD are more likely to be single and unemployed. In fact, OCD is among the 10 most disabling medical and psychiatric conditions.

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Autism's Tangled Genetics Full of Rare and Varied Mutations

Wed, 08 Jun 2011 19:00:00 EST

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]

The Hidden Brain (preview)

Wed, 08 Jun 2011 08:30:00 EST

Sitting in a darkened lab at the National Institutes of Health in 1999, my colleague Beth Stevens and I prepared to send a mild electric current through fetal mouse neurons in a cell culture. We were using a new microscope technique that would let us see electrical activity as a bright fluorescence emitted from a dye we had added to the culture, and we were hoping to find out if another kind of cell common in the nervous system would react in some way--Schwann cells, odd-looking cells that fabricate insulation around neurons. We didn’t really expect them to; Schwann cells cannot communicate electrically. I flipped the switch. The neurons immediately glowed. But then the Schwann cells began to glow as well. It was as if they were talking back.

The most mysterious substance on earth is the stuff between your ears, and much of the intrigue exists because many long-held beliefs about how the brain works have turned out to be wrong. Like medieval astronomers who were shocked to learn that the earth is not the center of the universe, neuroscientists today are facing a similar revelation about neurons.

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Fast Track to Vaccines: How Systems Biology Speeds Drug Development (preview)

Mon, 25 Apr 2011 07:02:00 EST

Aids researchers and advocates were devastated in 2007, when a much anticipated vaccine against HIV unexpectedly failed to protect anyone in a clinical trial of 3,000 people. Even worse, the experimental inoculation, developed with money from the Merck pharmaceutical company and the National Institute of Allergy and Infectious Diseases, actually increased the chances that some people would later acquire HIV. Millions of dollars and more than a decade of research had gone into creating the vaccine. Meanwhile, in that same 10-year period, 18 million people died of AIDS, and millions more were infected.

The Merck vaccine failed in large part because investigators do not yet know how to create the perfect vaccine. Yes, a number of vaccines have been spectacularly successful. Think of polio and smallpox. In truth, though, luck played a big role in those successes. Based on limited knowledge of the immune system and of the biology of a pathogen, investigators made educated guesses at vaccine formulations that might work and then, perhaps after some tinkering, had the good fortune to be proved right when the vaccine protected people. But all too often lack of insight into the needed immune response leads to disappointment, with a vaccine candidate recognized as ineffective only after a large human trial has been performed.

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New Drugs for Hepatitis C on the Horizon

Wed, 30 Mar 2011 17:30:00 EST

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]

Giving HIV a Poor Reception: New AIDS Treatment Tinkers with Immune Cell Genes

Thu, 03 Mar 2011 12:10:00 EST

BOSTON--A novel treatment for HIV could involve changing the genes in a person's immune cells and, ultimately, in his or her stem cells, as well. It might even lead to a cure for that deadly disease. Promising advances in that direction were presented here Monday at the 18th Conference on Retroviruses and Opportunistic Infections.

The pieces have been coming together for some time. First came the understanding that HIV enters a cell by grabbing on to a CD4 receptor molecule on the surface, and then on to a co-receptor molecule--the one most commonly used is called CCR5.

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Steps toward a Bionic Eye

Tue, 15 Feb 2011 09:00:00 EST

The human eye is a biological marvel. Charles Darwin considered it one of the biggest challenges to his theory of evolution, famously writing : that “To suppose that the eye with all its inimitable contrivances for adjusting the focus to different distances, for admitting different amounts of light, and for the correction of spherical and chromatic aberration, could have been formed by natural selection, seems, I freely confess, absurd in the highest degree.” Of course he did go on to explain how natural selection could account for the eye, but we can see why he wrote these words under the heading of “Organs of Extreme Perfection and Complication.” [More]