Decoding DNA
March 14, 2010
PBS' To the Contrary, hosted by Bonnie Erbé, has developed a three-part series called "Decoding DNA: Helping Children With Rare Diseases." The program looks at genetic mapping and finding cures for children with rare diseases like Charcot-Marie-Tooth Disease. To view the first two parts of the series, please visit PBS at the links below. Part 3 will be shown later this month. Please view your local listing for further information.
Decoding DNA Part 1
Decoding DNA Part 2
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Boy with Dejerine-Sottas in the news
March 11, 2010
My trusty sidekick Google alerted me to the following story of a boy with Dejerine-Sottas in England whose horseback riding program may be cut due to lack of funds and volunteers.
Michael Murphy, 13, has Dejerine-Sottas disorder, which affects the nervous system. He attends the centre every week instead of doing physical education lessons at his school in Mill Hill.
He has won a number of dressage awards and will be representing Great Britain at a dressage competition in Belgium next month.
His mother, Sue, said: “It would be terribly sad if the centre had to close on a Sunday as it really benefits the children and adults that come here.
“Parents are also encouraged by watching their children progress and I have been so happy to see my son not only enjoying himself here but also getting exercise to strengthen his core muscles.”
Knowing the way these things work (at least here in the States) I have to wonder if Michael took up horseback riding because his school doesn't offer an adaptive physical education program and won't accommodate him in a regular P.E. class. In any case, kudos to Michael for his achievements on horseback!
Full article after the jump.
Riding school in Elstree could close on Sundays due to lack of volunteers
By Suruchi Sharma
A RIDING school for the disabled in Elstree could close on Sundays if more volunteers are not found to help.
Penniwells RDA Centre, in Edgwarebury Lane, has up to 30 disabled children and adults on a Sunday with a total of 140 through the week.
The centre is reliant on volunteers and also requires up to three people for each rider.
Instructor Sarah Healing said: “If we cannot boost our Sunday volunteer base then we are going to have to close and all these riders will lose out.
“For many this really is the only exercise they can take part in all week. In the last few weeks we have already had to cancel some sessions and so we desperately need those volunteers who have drifted from us over this particularly hard winter to come back.”
Michael Murphy, 13, has Dejerine-Sottas disorder, which affects the nervous system. He attends the centre every week instead of doing physical education lessons at his school in Mill Hill.
He has won a number of dressage awards and will be representing Great Britain at a dressage competition in Belgium next month.
His mother, Sue, said: “It would be terribly sad if the centre had to close on a Sunday as it really benefits the children and adults that come here.
“Parents are also encouraged by watching their children progress and I have been so happy to see my son not only enjoying himself here but also getting exercise to strengthen his core muscles.”
Volunteer Pam Hooper, 71, from Borehamwood, said: “I actually joined as a volunteer after my husband read an article in the paper so I hope other people will see this and want to help.
“I had experience as I used to ride in my twenties. People are very busy nowadays but it is for such a worthwhile cause.”
Ms Healing added: “It is not only the riders' who benefit but also the volunteers themselves. It is such a rewarding and exciting place where you really can make a difference.
“Volunteers can be between 14 years to 80. We have many things for volunteers to do and it is not just about the ponies and riders. If anybody is good at maintenance, plumbing, gardening then we would love to hear from them.”
Some experience with horses is preferred but not essential as all volunteers receive full training.
Sunday hours are 9am-1.30pm but the centre welcomes volunteers for a minimum of two hours also.
Anyone interested in volunteering at the centre can contact Penniwells RDA Centre on penniwells.rda@btconnect.com or 0208 207 4525.
For more information log on to www.penniwellsrda.org.uk
© Copyright 2001-2010 Newsquest Media Group
http://www.borehamwoodtimes.co.uk
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Turning Back The Clock For Schwann Cells
May 20, 2008
Myelin-making Schwann cells have an ability every aging Hollywood star would envy: they can become young again. According to a study appearing in the May 19 issue of the Journal of Cell Biology, David B. Parkinson (University College London, London, UK) and collogues have pinned down a protein that returns the cells to their youth, a finding that might help researchers understand why myelin production falters in some diseases.
Wrapped around neurons in the peripheral nervous system, Schwann cells can "dedifferentiate" into a state in which they can't manufacture myelin. Reverting to an immature type of cell speeds healing of injured nerves. Researchers knew that the protein Krox-20 pushes immature Schwann cells to specialize and form myelin, but they didn't know what prompts the reversal. One suspect was a protein called c-Jun, which youthful Schwann cells make but Krox-20 blocks.
Parkinson et al. cultured neurons with Schwann cells whose c-Jun gene they could activate. Turning on the gene curbed myelination, suggesting that c-Jun prevents young Schwann cells from growing up. c-Jun also prodded mature Schwann cells to become youthful again, the researchers discovered. Schwann cells that are separated from neurons normally dedifferentiate, but the team found that the cells remained specialized if c-Jun was missing. They suspect that c-Jun works in part by activating Sox-2, as this protein also inhibits myelination.
The researchers now want to investigate whether c-Jun is involved in illnesses where myelin dwindles, such as Charcot-Marie Tooth disease and Guillain-Barre syndrome. The results might also provide clues about multiple sclerosis, in which immune attacks destroy myelin in the central nervous system. Unlike Schwann cells, oligodendrocytes, the myelin makers in the central nervous system, can't revert to an immature state. Whether c-Jun affects oligodendrocyte differentiation isn't known.
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Article adapted by Medical News Today from original press release.
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Parkinson, D.B., et al. 2008. J. Cell Biol. doi:10.1083/jcb.200803013.
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9-year old hurdles her disability to be in PossAbilities Triathlon
April 27, 2008
LOMA LINDA - Abbey Umali does not care if she comes in last place.
The 9-year-old girl is just happy to compete in the sixth annual PossAbilities Triathlon today at Loma Linda University.
Abbey - who has a rare form of muscular dystrophy - will compete against other able-bodied athletes in her age group.
"First, we run, then we bike, then we swim," said Abbey, the Muscular Dystrophy Association's 2008 National Goodwill Ambassador. "It's really fun."
According to the university, PossAbilities is a community outreach program developed by the Loma Linda University Orthopaedic and Rehabilitation Institute. Its goal is to offer people with disabilities who were born with or have suffered a permanent physical injury a sense of community and provide activities and practical help to integrate them into society.
When she was 2 years old, Abbey was diagnosed with a form of Charcot- Marie-Tooth disease, characterized by lack of balance and coordination as well as muscle weakness.
Abbey walks with the aid of leg braces.
But the third-grader at Montessori in Redlands does not feel sorry for herself.
Abbey loves to read, sing, play the piano and visit libraries, bookstores and animal parks. When she grows up, Abbey wants to be a veterinarian.
As ambassador, she travels through the United States and represents families that are affected by neuromuscular diseases and participates in Muscular Dystrophy Association events.
Today, Abbey will be competing in her third triathlon.
"She was born with a lot of determination," said Wendi Umali, Abbey's mother. "She doesn't let anything get her down. Anything she wants to do, she just goes after it."
To cheer her on
The sixth annual PossAbilities Triathlon is at 7 a.m. today at Drayson Center on the Loma Linda University campus, 25040 Stewart St.
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One big step for Geron: Therapy that enabled paralyzed rats to walk ready for test on humans, stem-cell firm says
February 24, 2008
(Editor's note: This will have implications for Dejerine-Sottas research in the future:)
Using human embryonic stem cells, the Menlo Park company has developed a therapy that enables paralyzed rats to walk and that it claims shows no dangerous side effects in experiments with about 2,000 animals.
Others also are studying such cells for medical uses, including Stanford University scientists, who last week said they had used them to help stroke-disabled lab rats walk better. But none are as close to seeking permission for human tests as Geron, whose treatment is for spinal injuries.
For its application requesting regulatory approval from the U.S. Food and Drug Administration, the public company has gathered 25,000 pages of data - far more than normal for such requests, Geron Chief Executive Dr. Thomas Okarma said. He told analysts recently that Geron would submit it to the FDA during the first part of this year. But he declined to reveal the actual filing date, he said, "to minimize any kind of pressure on the agency."
Yet Geron's bid isn't certain.
Although the FDA would not comment on Geron's application, President Bush objects to most research with embryonic stem cells, which come from discarded embryos. Moreover, his administration has become intrigued with recent studies showing skin cells can be manipulated to have embryonic-like properties without harming an embryo.
Read the rest of One Big Step for Geron.
Posted by Michelle at 04:11 PM |
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