Posts Tagged ‘rare diseases’

Why We Give: Brett Kopelan and the Worst Disease You’ve Never Heard Of

Wednesday, July 6th, 2011

Everyone gives for their own reasons – compassion, anger, or sometimes just the tax deduction. But some people have personal experiences that change them forever – and compel them to fight for a cause they truly believe in.

Brett Kopelan is the Executive Director of Debra, a charity that funds research for a terrible disease called Epidermolysis Bullosa (EB for short). Debra also runs programs that help families whose children are afflicted with the disease. Brett has an M.A. in Child Psychology from Columbia University and a daughter with ED. His personal experience with the disease inspired him to make it his life’s work to combat the disorder and support families like his own.

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Scientists Stumble Upon Potential Key To Eternal Youth In Stem Cell Research

Friday, February 26th, 2010

An unprecedented breakthrough in stem cell research may hold the key to combating a terrible disease and unlocking the gate to immortality…

  • In the process of working with a new type of cell—induced pluripotent stem cells, a stem cell similar to embryonic stem cells but made from ordinary skin cells—a team of researchers at the Children’s Hospital Boston and the Harvard Stem Cell Institute were able to reverse the aging process of a rare genetic disease.
  • The disease, dyskeratosis congenita, is a blood marrow disorder that causes premature aging, warped fingernails (among other symptoms) and an increased risk of cancer. In the process of creating iPS cells from diseased patients’ skin cells, the scientists found that a gene in the cells multiplied three-fold, helping to restore telomeres (little caps on the ends of the chromosomes that carry DNA), which are integral in the process of aging and death in cells. Replenishing the telomeres could, in theory, help reverse the aging process.
  • About half of the people with the disease have bone marrow failure (meaning that their bone marrow stops making blood and immune cells properly), and of those people, many often die during bone marrow transplants. However, researchers think that bone marrow transplants from a patient’s own cells may be a gentler process.

Facts & Figures

  • Dyskeratosis congenita is a very rare disease and is usually diagnosed between the ages of 10 and 30.
  • In dyskeratosis congenita, the cells lose telomerase, an enzyme that helps maintain the telomeres. As telomeres deteriorate, cells age, and disease and death follow.
  • In cancer, telomerase apparently helps tumor cells become immortal and proliferate. Experimental cancer drugs target telomerase.
  • TERC helps rejuvenate telomeres, and researchers suspect that tumor cells employ TERC in order to achieve immortality.
  • Researchers speculate that replenishing TERC might help the sufferers of dsykeratosis congenita.

Best Quote

“We’re not saying we’ve found the fountain of youth, but the process of creating iPS cells recapitulates some of the biology that our species uses to rejuvenate itself in each generation.” – Suneet Agarwal, Researcher at Harvard Stem Cell Institute