Category Archives: Gene therapy

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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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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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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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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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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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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