Category Archives: Gene therapy

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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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.

[More]

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]

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]

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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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.

[More]

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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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]

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.

[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]