December 2007 Archives
Even before the holiday season, 13-year-old Conner Smith was feeling a little like George Bailey at the end of the classic film It's a Wonderful Life.
"He had lots of friends who showed him how much they cared about him," Conner said. "Our family and friends have been like that too."
Conner and his Lafayette family needed a lot of support this past year. The teenager went through a national search for a bone marrow donor and finally underwent his transplant in August in Cincinnati.
The transplant was his only chance at being cured of a rare immune disorder, called Nuclear Factor Kappa B Essential Modifier Deficiency, or NEMO. Conner and his mother, Kristin Smith, spent more than three months living in Cincinnati -- inside or close to the hospital where he had his transplant -- until finally being allowed to return to Lafayette the week of Thanksgiving.
Doctors have ruled Conner's transplant a success, but he's not out of the woods yet and hasn't had an easy time so far.
"The most annoying side effect has been the BK virus, which has caused lots of pain and bleeding," Conner said. "It's getting better, but still is not completely gone, I've been dealing with it for more than three months."
The BK virus commonly reactivates in patients' bodies after a transplant, especially when aggressive chemotherapy regimens are used, Kristin Smith said. At its worst, Conner's BK virus landed him in the hospital for six weeks to get daily blood and platelet transfusions.
Conner is still at high risk of developing other infections, which could be life-threatening due to his decreased immune function. So he's not allowed visitors at his home, and he won't really go anywhere except doctor's appointments for at least the next few months.
Conner stays home while his two brothers -- fraternal triplets Evan and Hayden -- and his younger sister, Kelsey, go to school. Some teens might think that sounds like a good arrangement, but Conner misses his friends and even his classes. He won't be able to return to school until next year at the earliest, Kristin Smith said.
Despite some setbacks, Conner said he's more optimistic about life since his transplant.
It "helped me realize how important my family and friends are to me," he said. "I guess it helped me appreciate my life more."
Each of the Smith children carry a variation of immune deficiencies, and most recently 11-year-old Kelsey, who's also a NEMO carrier, has been struggling with a respiratory illness.
"The container of Clorox wipes is my best friend at the moment," said Kristin Smith of her efforts to keep germs away from Conner and the rest of her children.
She and her husband, Chris, feel grateful for Conner's success through the transplant so far, but are still apprehensive about how far they still have to go.
"There's aren't any guarantees," Kristin Smith said. "So we're cautiously optimistic and are just trying to focus on the positives."
"Two roads diverged in a wood, and I -
I took the one less traveled by,
And that has made all the difference."
~Robert Frost
PARIS (AFP) -- A team of American scientists reported Sunday that they had widened the scope of a Japanese breakthrough in stem cells that many experts have hailed as the greatest medical achievement of 2007.
In November, Shinya Yamanaka of Kyoto University and colleagues announced they had reprogrammed human skin cells to have the multiple potency of stem cells culled from human embryos.
Stem cells are early cells that differentiate into one of the 220 different types of cells in the body.
Medical researchers hope that one day, these cells can be grown in a lab dish to become specific replacement tissue to replenish organs ravaged by disease or damaged in accidents or warfare.
Yamanaka's team used a retrovirus to deliver four genes into skin cells taken from a mouse and an adult human.
In essence, this turned the clock back so that these cells lost their differentiated profile and became so-called induced pluripotent stem cells, or iPS.
Reporting on Sunday in Nature, a team led by George Daley of the Children's Hospital, in Boston, Massachusetts, say they have been able to use the same four genes to derive iPS from foetal lung and skin cells, from neo-natal skin cells as well as from skin samples taken from a healthy human volunteer.
The research is important as it marks a step forward to "patient-specific" stem cells -- in other words, transplanted stem cells that carry the same genetic code as the patient and thus cannot be rejected as alien by the body's immune system, they say.
The researchers also found that they could generate iPS without a cancer gene called c-Myc that has been implicated in tumours in many lab mice in earlier experiments.
That replicates a similar finding by Yamanaka's own team, published after the first breakthrough was reported.
The researchers stress, though, that many hurdles lie on the road ahead before iPS is certified as safe and effective and can be used to grow replenishment tissue.
"Clinical success with human iPS cells must await the development of methods that avoid potentially harmful genetic modification," they write, saying that "a worthy goal" would be to find biochemicals to replace gene infiltration for inducing iPS.
by Nathan Bevan, Wales On Sunday
IT'S the Christmas they thought he'd never see.
This time last December the parents of little Rhys Harris were told that because of an ultra-rare genetic illness their son would have less than a year to live.
But now the courageous six-year-old from Newbridge has amazed doctors by being discharged from hospital just two months after receiving a life-saving bone marrow transplant.
"They say this time of year is a time for miracles and that's what we've been given - a miracle," said Rhys' ecstatic dad Kevin, 43.
"Last Christmas we took him to Lapland because we honestly believed it would be last one he'd ever see.
"I never would have dreamed back then I'd be having this conversation with you now. I would never have dared."
Rhys' plight touched hearts around Wales.
The Hollybush Primary school pupil was diagnosed in 2004 as having NEMO, a terminal condition that affects only 35 people in the world.
"NEMO attacks the body's immune system and leaves the sufferer extremely susceptible to disease," said Kevin, who gave up his job running a car repair firm to be his son's full-time carer.
"Then when Rhys contracted TB, we were told there were drugs that could fend it off for a while but after a while they'd lose their effect and that would be it."
Both he and wife Dawn, a former beautician, were left with the agonising choice of watching their son slowly die or risk him having a bone marrow transplant and the chemotherapy killing him instead.
Finally, in September this year, the Harris family were told a bone marrow match had been found for Rhys in the US, a moment they thought would never come.
"We'd waited so long to be told that, after a while, you begin to wonder if it would ever happen - it's sad but inevitable," said Kevin.
So, along with Dawn and older son, Morgan, they prepared to make the move to Newcastle, the General Hospital there being one of only two places in the UK where the gruelling medical procedure could take place.
"The doctors only gave it a 30 to 40 per cent chance of it working and we were told Rhys would be in a bubble for up to nine months afterwards," he said, describing the grim prospect of their boy being kept in strict isolation in sterile ward while being unable to so much as give him a kiss.
"We couldn't even hug him unless we'd been surgically scrubbed first
"But even that had to be kept at a bare minimum just in case we passed on an infection that could kill him."
The whole process was made even harder because Rhys is severely deaf - the result of meningitis at nine months old.
"It's difficult for Rhys to communicate his feelings, but he's really tough and resilient," said Kevin. "Then again kids tend to be a lot better at adapting to these sort of things than the adults do.
"And in a way, it is not a bad thing that we couldn't really tell him what was going on. That way he stayed blissfully unaware."
Since October the family have been living in Newcastle, in a flat just four miles from the hospital, but they hope to be back in Wales by the Spring.
"We're not out of the woods for another six months yet," said Kevin.
"Rhys has a whole pharmacy of drugs to contend with, but it is not too bad.
"The main thing we've got to watch for is the chance that his body could still reject the bone marrow," said Kevin.
"But he's itching to go exploring with his brother and has asked me to get his metal detector ready for him.
"He is, to put it mildly, mad and has not stopped running around like a lunatic.
"Hopefully the novelty of being home will wear off soon and he will slow down."
But right now, the family are preparing to be together for Christmas.
Kevin said: "We want to make this the best Christmas ever, I know me and Dawn have already had the best present we could ever ask for."
And what about Rhys, what does he want from Santa?
"Well, you know those big Argos catalogues?" asked Kevin.
"He wants everything in those!"
Article here.
Rare Bone Marrow Disease With Only One Cure
Family Uses Genetic Engineering to Save Daughter's Life
There was one way to cure Katie and allow her to live a normal life: a bone marrow transplant from a perfectly matched sibling. But Katie's older brother Calvin was not a match. They would need to give Katie another sibling. Lipton told them about a specific process that would ensure that their next child, and Katie, would share the same bone marrow DNA. To Steve, the whole thing seemed more like science fiction.
"It was surreal. I mean, I thought it was just in the movies," he said.
There were several steps, starting with in vitro fertilization to help the Trebings produce a maximum number of embryos. Then a doctor would test for embryos with matching bone marrow DNA using a procedure called preimplantation genetic diagnosis, or PGD. The test is done by pulling one cell from each embryo and identifying the ones that match Katie's bone marrow DNA.
"It seemed like a win-win situation," said Stacy.
Via ABC News here.
- People should drink at least eight glasses of water a day
- We use only 10% of our brains
- Hair and fingernails continue to grow after death
- Shaving hair causes it to grow back faster, darker, or coarser
- Reading in dim light ruins your eyesight
- Eating turkey makes people especially drowsy
- Mobile phones create considerable electromagnetic interference in hospitals.
Article here.
Caution urged in new method for stem cells
Harvard sticks to cloning
CAMBRIDGE - The stem cell wars are not over, say leading researchers at Harvard and other universities who believe that the cloning of human embryos still represents the key to developing effective treatments for an array of horrific diseases.
Recent weeks have seen spectacular breakthroughs in creating embryonic-like stem cells without making or destroying human embryos. Politicians, including President Bush, together with religious activists and some highly visible biologists have been quick to proclaim that the new technique for genetically "reprogramming" ordinary adult skin tissue into stem cells marks the moral high road to the future.
It is a route that bypasses thorny issues raised by the use of frozen or cloned human embryos, and is also technically simpler than cloning.
But researchers at Harvard, viewed by many as the world's leading center of stem cell research with some 750 lead scientists at 119 laboratories in the Boston area, are worried that a stampede to the new technique is a gamble that medicine can ill afford to make.
Although new reprogramming techniques are all but certain to yield giant advances in researching disease, they remain far too dangerous for actual treatment, the scientists say. The so-called induced pluripotent stem cells, or IPS, made by the process may never be safe for humans, making it vital to maintain the pace of research on more controversial fronts.
"For doing basic research on human cells, IPS as a method has won - it's huge," said Dr. George Q. Daley, a stem cell researcher at Children's Hospital Boston. "But for the ultimate goal of getting cells into a patient, it's a lot less clear. These cells may never be useful for direct therapy."
That is because the reprogramming technique, conceived by Japanese scientist Shinya Yamanaka, employs genetic alteration to turn back the clock on ordinary cells, making them regress to the desired "blank slate" stem cell form.
Four potent regulator genes are inserted in the adult cells to induce reprogramming. But this may also produce quirks in cells, like so many booby traps - making the reprogrammed stem cells far too unpredictable, for now, to use in human therapy. Moreover, several of the genes used to trigger the reprogramming process are known to cause cancer in mammals.
In what is even more of a lurking threat, the process uses retroviruses to carry the genes into cells. These viruses can disrupt the normal function of DNA and also can spur the birth of cancer cells.
Some proponents of reprogramming argue that problems from genetic modification and use of viruses are purely technical and easily surmountable. But other stem cell researchers are skeptical that reprogrammed cells or specialized cells produced from them will ever win approval for use in humans. "It will never be approved [by the FDA] to put these cells in a patient," said biologist Douglas A. Melton, codirector of the Harvard Stem Cell Institute. "The retrovirus can be a Trojan horse that can carry all sorts of problems."
That's why Harvard, with stem cell funding in excess of $60 million, intends to maintain full-throttle efforts to clone petri dish human embryos, from which to harvest stem cells. This work has so far not been successful, but Harvard scientists also will press ahead with creation of human stem cells from frozen embryos - most embryonic stem cell research around the world involves 42 "lines," or batches of stem cells, forged at Harvard from frozen embryos to bypass Bush's virtual ban on use of federal money for such research.
Bush and other opponents believe that human embryos possess the potential to become full human beings - and thus, scientists are committing murder when they destroy early-stage embryos in the process of culling stem cells. Most scientists acknowledge work with embryos raises difficult questions, but argue that the potential for medical good justifies their pursuit.
"There is a core of scientists, myself included, who deeply believe this an ethical and highly valuable area of research," Daley said.
Harvard is by no means ignoring reprogrammed cells. Several of its labs have made major findings in this area, and Melton, Daley and other Harvard scientists said they are intensifying their work with reprogrammed cells, which they see as likely to produce deeper understanding of cell function and the origins of disease, as well as providing the best realm for testing drugs and other therapies.
In fact, Daley's lab and another led by developmental biologist Kevin Eggan are the only two in the Harvard system pursuing the creation of human embryonic stem cells through cloning. The process, known as nuclear transfer, involves removing DNA from a patient's cell and inserting it into a donated egg, which forms an early embryo genetically matched to the patient - a crucial feature if stem cells are to be used for therapy. Worldwide, fewer than 10 universities and other research centers remain actively involved in the scientifically complex process.
The numbers may dwindle further as researchers - and, critically, funding sources - switch emphasis to reprogramming procedures. Since the technique of genetically manipulating workaday cells into functional embryonic-like stem cells is as simple as it is revolutionary, advanced stem cell research is now feasible for almost any biological lab.
The National Institutes of Health said earlier this month it is about to commit new money to spur work on reprogramming cells. "NIH will be releasing new program announcements soon," Story Landis, head of the institutes' Stem Cell Task Force, told the Globe by e-mail.
That's a big carrot for stem cell research labs across the country.
"A lot of bright scientists have already been carried away from the field - partly by the controversy, partly by lack of money," said Daley.
Harvard scientists, as well as biologists and ethicists from other institutions, argued forcefully that stem cells harvested from human embryos still represent the single best hope for ultimately treating humans with devastating ailments ranging from severed spinal cords to heart disease. Reprogrammed cells represent "a gigantic part of the future of stem cell research, but not the whole future," said Konrad Hochedlinger, a Massachusetts General Hospital lab leader and developmental biologist who has done cutting edge work on reprogrammed stem cells.
"Maybe in a few years all efforts will go in this direction," he said. "But right now that would be a very foolish and maybe tragic bet."
The intense scientific interest in embryonic stem cells lies in their ability to form any of the human body's 220 cell types. Thus, they might be coaxed to form nerve and bone tissue to heal a broken spine; pancreatic cells to treat diabetes; heart tissue to mend coronary artery disease - the potential appears limitless.
The view that efforts to secure stem cells from human embryos should stay on course is one expressed well beyond Harvard.
"It's very early days, the game isn't over," said Christopher Scott, director of Stanford University's Program on Stem Cells and Society. "It would be folly to shove other research in the drawer in favor of following this one new direction, however promising."
Said Ronald M. Green, professor of ethics at Dartmouth College: "Not to move forward with research" involving human embryos "would be grossly irresponsible. These still remain the most realistic routes to the end of the rainbow - that is, true healing therapies for flesh-and-blood patients."
Article here.
"Faith is the strength by which a shattered world shall emerge into the light."
~Helen Keller
Getting the Lead In
A new addition to Children's Hospital Boston is designed to help those with a rare and aggressive cancer
A new lead-lined room at Children's Hospital Boston may sound stark, but it's a welcome addition for some parents of sick children. The $680,000 room will be used in the treatment of neuroblastoma, a solid tumor of the sympathetic nervous system that usually attacks children under 5. The cancer, which affects only about 600 children a year in the United States, is highly curable in about 50 percent of cases. The remaining neuroblastoma patients, however, have a very aggressive form that is often widely metastatic at the time of diagnosis. For these patients, treatment includes surgery, chemotherapy, and stem-cell transplant; but even with this no-holds-barred regimen, about half of these patients relapse, requiring high doses of intravenous radiation.
But last month, construction was completed on Children's Hospital Boston's lead-lined room, which can accommodate up to 52 neuroblastoma patients a year. The sixth-floor room - which includes an extra pull-out bed so that a parent can accompany the young patient - required a major shoring up of the infrastructure to hold the 31,000 pounds of thin lead bricks and lead-covered plywood that line the 256-square-foot space.
Doctors hope MIBG therapy will eventually be used in the initial treatment for kids who have high-risk neuroblastoma, rather than just for those who have relapsed. "It's a very promising therapy," says Dr. Suzanne Shusterman, a neuroblastoma specialist and attending physician in pediatric oncology at Children's. "It has a real possibility to be part of improving cure rates."
Boston Globe article here.
"I do not feel obliged to believe that the same God who has endowed us with sense, reason, and intellect has intended us to forgo their use."
~Galileo Galilei
by Madeleine Brindley, Western Mail
A SIX-YEAR-OLD boy has left hospital less than two months after receiving a life-saving bone marrow transplant.
Rhys Harris, from Newbridge, was discharged on Saturday after living in a "bubble" to protect his new immune system.
His family - parents Kevin and Dawn and brother Morgan - are currently living in Newcastle while Rhys undergoes pioneering treatment to cure him of the genetic disease Nemo.
Mr Harris said, in his online blog, "We are all just trying to get into a normal rhythm again now. Rhys has a whole pharmacy of drugs to contend with, but it is not too bad.
"He is, to put it mildly, mad. He has not stopped, beating on his brother, running around like a lunatic. Hopefully the novelty of being home will wear off soon and he will slow down."
Rhys underwent a bone marrow transplant in October after a donor was found in the US - he had to spend so much time in the sterile bubble because he was unable to fight off any type of infection.
His immune system was destroyed by chemotherapy before the bone marrow transplant could take place.
Rhys, who is deaf as the result of a bout of meningitis, was allowed out of hospital for a day trip at the end of November before doctors said he was well enough to return home with his family.
Article here.
SISTER, SAVIOR
Children's Immunology chief Raif Geha, MD, and gastroenterologist Samuel Nurko, MD, MPH, struggled to bring Andy's infections under control. Meanwhile, Jordan Orange, MD, PhD, an immuno-genetics specialist, searched for clues to Andy's condition. Orange was conducting research on the immune system's master switch, the gene NF-kB Essential Modulator, or NEMO. Nine months after the Treviños' arrival, Orange discovered Andy's problem: a rare NEMO mutation, affecting only boys, was suppressing his immune-response signal. Andy's immune cells, like an army deprived of ammunition, couldn't fire a single defending shot against infection.
Last Resort
The only hope for a cure was risky--chemotherapy to destroy Andy's faulty immune system, followed by a transplant of healthy blood stem cells from bone marrow or umbilical cord blood to restore it. Success depended on a genetically matched donor. The Treviños searched donor registries for two years without success. Andy's best chance would be a sibling--specifically, a girl who might
carry the NEMO mutation, but wouldn't have the disease.Andrés and Paulina Treviño arrived at Children's Hospital Boston in September 2000, with two suitcases and their desperately sick 16-month-old, Andy. He had suffered continual, life-threatening infections since birth, but no one knew why. After consulting 70 doctors and spending 375 days in the hospital in their native Mexico, the Treviños had run out of options.
Sofia's gift
Conceiving this sibling involved the most advanced diagnostics and experimental genetic technology available--sperm sorting to ensure a girl, cell testing for a genetic match, in-vitro fertilization (IVF), and pre-implantation diagnosis. But the Treviños' decision was simple. "We'd always wanted two or three children," says Andrés. "Once we knew having another child could help save Andy, we had no hesitation." After repeated IVF attempts,Paulina became pregnant. In March 2004, the Treviños welcomed Sofia, a red-cheeked, curly-haired beauty. Andy, then 5, was enthralled with his baby sister.
Later that year, in germ-free isolation at Children's, Andy endured 10 days of immune-destroying chemotherapy. Then he received a transfusion of Sofia's blood stem cells, saved and stored from her umbilical cord. Over several months, healthy, normal cells regenerated Andy's immune system. With Sofia's gift, Andy was cured.
Stem cell potential
No child should die because a bone marrow donor can't be found, yet many do. A determination to save these patients, and many more of all ages, drives the Children's Stem Cell Program, led by director Leonard Zon, MD, and associate director George Daley, MD, PhD. Laboratory-grown embryonic stem cells (ESCs) may one day provide the ideal treatment for patients like Andy. With their potential to form not just blood, but any tissue in the body, they may become a limitless medical repair kit. New, healthy cells will take over for cells damaged by diseases like sickle-cell anemia or leukemia and restore normal function rather than simply treating symptoms. Conditions such as Parkinson's or diabetes that require life-long medication will be treated instead with cell implants. Stem cell science promises to restore health for millions suffering and dying from currently incurable conditions.
Smart target
Children's Stem Cell Task Force, a group of business and philanthropic leaders, worked with Zon and Daley to develop a strategic plan for delivering cell-based therapies to the clinic in as few as seven years. There are good reasons the plan's initial target--blood diseases including leukemias, severe anemias, and immune deficiency disorders--is the most efficient way to prove cell therapy works. Bone marrow transplantation, the technique for delivering blood cells that saved Andy Treviño, is well established and effective. (Similar delivery mechanisms don't yet exist for getting most other cell types efficiently and safely to their targets.)
Zon and Daley are renowned blood and cancer specialists as well as internationally recognized leaders in stem cell research. Both are Howard Hughes Medical Investigators (HHMI), one of the most competitive, prestigious, and coveted recognitions in biomedical research. In addition, the Stem Cell Program is one of just a handful worldwide developing somatic cell nuclear transfer (SCNT).
Fast tracks
To speed the science towards cell therapy clinical trials, the program is focused on four key goals:
• Creating rejection-proof cells: SCNT is a leading technique that makes it possible to create healthy cells the patient's body won't reject. Therapeutic cells are created by inserting the nucleus from a regular cell (e.g., skin) into an egg whose own nucleus has been removed, and coaxing it to develop ESCs. Daley was the first to show, in mice, that the new cells, with their gene defects corrected, can be implanted to cure disease--no donor and no rejection involved. His lab is translating SCNT techniques developed in animals to human cells.
• Growing needed tissues: ESCs are so valuable because they're capable of differentiating into any type of cell. The Stem Cell Program has already differentiated human ESCs into blood cells--the next goal is to capture the precursor blood stem cells needed for therapies, as it has been done in mice.
• Modeling disease and devising cell markers: Along the way, Stem Cell Program researchers need to track success. They'll develop biomarkers--biochemical signatures that can be used to measure the progress of disease or the effects of treatment--for blood stem cells.
• Translating findings into treatments: Bringing clinical-grade cells into production quickly and safely is critical to developing treatments. One of the most immediate needs is to buy access to an existing facility nearby where new cell lines can be derived under sterile conditions satisfying the Food and Drug Administration's requirements.
Poised for breakthrough
Several stunning developments this year demonstrate the Stem Cell Program's progress toward its primary target, blood disease. Along the way, its innovative approaches have uncovered important findings for other diseases like cancer and heart disease.
• Existing human stem cells lines available for research are limited. Using discarded IVF embryos--considered medical waste--Daley recently generated 12 new viable hESC lines.
• While perfecting these techniques, Daley also has isolated mouse ESCs from a parthenote--an egg that's been stimulated to start developing without fertilization. A parthenote can't fully develop into a fetus but is a rich source of ESCs. The egg and resulting ESCs have the same genes, making the cells ideal for rejection-proof transplant back to the egg donor.
• The Zon lab is aggressively investigating genes and chemicals that can transform hESCs into the vast quantities of blood stem cells needed for transplant. Zon recently found a drug, prostaglandin E2, that stimulates ESCs to differentiate into blood stem cells. It also boosts blood stem cell production by 300%--the best results ever reported. This finding has immediate benefits--the drug could accelerate recovery for patients who've had bone marrow transplants. Clinical trials may begin within a year.
• Investigators recently coaxed a beating contractile heart muscle cell from a human stem cell. The hope is that one day such cells will be used to repair damaged heart muscle.
• Stem Cell Program researcher Carla Kim, PhD, was the first to discover lung stem cells and is studying the link between the lung stem cells and lung cancer.
Philanthropic turning point
These recent breakthroughs are exhilarating. But delivering on their potential involves hard bottom-line reality.
Bringing blood disease cell therapies to clinical trials will require $50 million. Each subsequent disease target will need an estimated $16 to $20 million. Since federal policy currently prohibits funding for all but a very limited number of stem cell lines, other resources must be used for the rest of stem cell research. Philanthropic support is critical.
Generous donors have given more than $20 million toward our goal, but much more is needed for Children's Hospital Boston to usher in a new era of medical care "We're at a turning point," says Jonathan Kraft, who, with his wife, Patti, co-chairs the Stem Cell Task Force. "We're looking at the greatest, most immediate impact on the lives of sick and suffering patients, at vastly reduced financial and human costs.
This is the place to invest. There's no time to lose."
For more information about supporting the Stem Cell Program at Children's Hospital Boston, please contact Kathy Corcoran, (617) 355-2370; kathleen.corcoran@chtrust.org.Spirit of Giving is a publication of Children's Hospital Trust.
Transplant boy is out of bubbleA six-year-old boy is able to leave hospital seven weeks after receiving a bone marrow transplant from a donor in the United States.
Rhys Harris of Newbridge, Caerphilly county, is one of only about 40 people in the world with Nemo, a genetic disease crippling his immune system.
He has spent months in a sterile bubble at a hospital in Newcastle because he could not fight off infection.
The bone marrow will help him build a new immune system.
Rhys, his parents Kevin and Dawn and younger brother Morgan moved from south Wales to Newcastle, where the treatment took place, after a worldwide search for a donor.
The family have already been able to enjoy a day trip to the seaside from the hospital.
Mr Harris said: "It's earlier than ever we thought we could come out with him - it's great to see him running about, and he really needs to strengthen his feet and start his muscles working again.
"He's seeing all these things he can't remember before, like buses, Christmas trees in people's windows - he sees a dog and he smiles, it's precious."
The donated bone marrow was flown from America in October before the transplant took place.
The youngster's immune system had to be destroyed by chemotherapy before the bone marrow transplant could take place.
Rhys, who is deaf following a bout of meningitis, will have to live in a special germ-free room for 12 months and have restricted contact while his immune system rebuilds.
"We have to be very careful about where we go with him and for how long, but it's nice to get out in the fresh air after so long," said Mr Harris.
Article via BBC News here.
"Great minds have purposes, little minds have wishes."
~Washington Irving
This picture from circa Oct. 2002. Andy taking a bath, Paulina with finger puppets & Charla the fairy at 8 East, Children's Hospital Boston.
Researchers from the Whitehead Institute for Biomedical Research in Cambridge, Mass. and Kyoto University in Japan used an innovative new method to reprogram adult cells to an "embryonic-stem-cell-like" state, and successfully cured mice with sickle-cell anemia.
iPs = induced pluripotent stem
Children's Hospital Trust, the fundraising arm of Children's Hospital Boston invited me to Las Vegas last week to talk about "the healing power of stem cells" at the Caesar's Palace. I was the "Patient Family Speaker".
Here is my talk via You Tube,
Part ONE:
Part TWO:
And some pictures:
Dr. Zon, Mr. Loveman, Mr. Karp, Dr. Daley, Me
This from Kevin, Rhys Dad:
Tomorrow,,,, Rhys comes home......
I find it weird to even write? After what is considered a short period for a complex procedure? 48 days plus 8 days chemo... I left him tonight and said good bye to some of the Nurses, I was actually a bit emotional. After hating going in and following procedures, and being kooked up in a small room watching your child go through a living hell you kind of get used to it and have comfort in the fact that if something goes wrong you have the best of the best medical team close at hand. I have nothing but admiration and envy of the staff there, even though, as always I have not been the easiest to get on with!
There is still a long long way to go, but at this moment in time Rhys is cured of NEMO and everything is going Great, but that is down to one person, RHYS, he is the most determined, single minded, uncompromising child I know, and I am proud to call him my son!!
More at www.cure4rhys.org
Article via PubMed here.
Studies of patients with congenital immunodeficiency due to mutation of the NF-kappaB essential modulator (NEMO) gene have demonstrated that NEMO integrity is required for NK cell cytotoxicity. Thus, we have studied the physiology of NF-kappaB activation in NK cells during the cytolytic program. In resting ex vivo human NK cells or cell lines, IkappaB was degraded after 10 min exposure to PMA and ionomycin, or TNF and was maximally degraded by 30 min. Ligation of several NK cell activation receptors including NKp30 induced a similar response and was blocked by pretreatment with the proteosome inhibitor MG132. There was no short-term effect on p100 processing, the signature of noncanonical NF-kappaB activation. NK cell IkappaB degradation corresponded to increases in nuclear NF-kappaB as detected by EMSA. Supershift of stimulated NK cells and fluorescence microscopy of individual NK cells in cytolytic conjugates demonstrated that the p65/p50 heterodimer was the primary NF-kappaB used. NF-kappaB function was evaluated in NK92 cells transduced with a kappaB GFP reporter, and their conjugation with K562 cells or ligation of NKp30 ligation resulted in rapid GFP accumulation. The latter was prevented by the Syk inhibitor piceatannol. Thus, NK cell activation signaling specifically induces transcriptional activation and synthesis of new NF-kappaB dependent proteins during the initiation of cytotoxicity.
~Francine Ward
