Keeping the faith for Parker

Keeping the faith for Parker
Canadian boy will return to Italy for treatment of his rare disease
By Mariella Policheni

Parker DesLauriers, 2, will be returning to the San Raffaele Hospital in Milan in May for further testing.
Parker, with his blond page-boy hair cut and the energy typical of children his age, is afflicted with a rare disease known as Severe Combined Immunodeficiency Disease (Ada-Scid) a disease without a cure that makes him vulnerable to virus, bacteria, and fungus.
“However, there are experimental treatments available, like the one administered by Doctor Alessandro Aiuti at San Raffaele in Milan, which we had our Parker undergo with the hope of seeing some positive results,” says Parker’s mother Tracy DesLaurier. “It will take a lot of time, maybe years, before we know for sure if Parker is cured, but in May we’re heading to Milan to learn, through a series of tests, if the treatment works.”
Severe Combined Immunodeficiency Disease (Ada-Scid) is so rare that in the past 20 years only 15 children have been treated for it at Sick Children’s Hospital in Toronto.
We wanted to try Doctor Aiuti’s treatment, which has proven to be successful on many other children,” adds DesLauriers. If he succeeds in overcoming the disease, Parker will be able to lead a normal life, he’ll be able to attend school, interact with others and live like a normal child, whereas for now, we have to limit his interactions, his time outdoors, and we have to provide a home environment that is as sterile as possible.”
Parents Tracy and Kevin DesLauriers are full of hope for their son Parker who has had to live a sheltered first two years of life under extreme safety measures.
“We have always been positive and continue to be so,” says Tracy DesLauriers, “with test results from gene therapy, which ended last September showing that the number of lymphocytes is increasing although they are obviously not at the level they should be. This is encouraging news for us, although we remain with our feet planted to the ground, so that we don’t get overly optimistic.”
To be near Parker, his parents have had to quit their teaching positions and move to Italy for seven months, facing many challenges.
“The language, being away from our families and our home, and the financial challenge of not having worked in months has naturally affected our situation,” says DesLaurier. “But we have friends and family who help us, and in Milan we’ve come to know and appreciate Doctor Aiuti’s team, who have been marvelous, as has been all the hospital staff. We wanted to try out this treatment with the hope of guaranteeing a normal life for our son. We’re confident and are making this second trip to Italy with much hope – with the hope that everything is moving in the right direction.”
In a show of support, family and friends of the DesLauriers have organized a fundraiser, Golfing ‘Fore’ Parker, to be held June 1 at Four Seasons Golf Club (www.2golf.ca) at 1 p.m.

Anyone wanting to buy tickets, donate prizes, help organize the event, or who wants to get further information, can write to golfingforparker@gmail.com. For donations visit the blog at http://www.scidada.blogspot.com.

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Castleford mum told: ‘Kiss could kill your new baby’

Castleford mum told: ‘Kiss could kill your new baby’
By Stuart Robinson

DOCTORS have told proud mum Lauren Travis that a kiss could kill her new baby Melody.

Three-month-old Melody Davies was diagnosed with a genetic disorder called severe combined immunodeficiency (SCID) which affects just one in 500,000 babies and means she has no immune system so even a common cold could kill her.

Parents, Lauren, 23, and Scott Davies, 28 must find a bone marrow donor in the next three weeks before Melody will be sent for gene therapy at Great Ormond Street Hospital, London.

Lauren, of Briggs Avenue, Castleford, said: “None of her family are matches. I’m close, but the doctors want a perfect match.

“It’s a waiting game. They’re doing an international search, but it gets worse every day. You know she’s running out of time before she has to go to London.”

SCID means children need a germ-free environment to survive before treatment.

Melody is currently in a room filled with filtered air at a specialist hospital in Newcastle.

Lauren said: “Things like a cold, or a cold sore, can be lethal, because she has no cells to fight them off. It’s awful, you can’t kiss her. You can’t have facial contact with her. It’s why they say ‘a kiss can kill’, because you could pass a cold on.”

A bone marrow transplant would give Melody an immune system but un
less the match is perfect, she could reject the cells.

Gene therapy is being tested as a treatment but the procedure is not without risks.

Lauren said: “It’s horrifying to think that she’ll be a guinea pig but you can’t think of it like that. She’s not the first. They’ve done trials in Italy, America, France and at Great Ormond Street.

“Obviously they don’t know the long term effects but what do you do? If she doesn’t get the treatment she will probably die.

“You are put in the position where you have to make a decision. You just have to weigh it up.

“She was lucky doctors at Pontefract diagnosed her so early.

“I think if it had been much longer, we would have been looking at a different outcome.

Lauren has also asked people to put themselves forward as bone marrow donors. For more information visit http://www.melodysdiary.piczo.com which has been set up by her parents.

The full article contains 395 words and appears in EP Leeds First & County newspaper.
Last Updated: 28 March 2008 8:18 AM

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Quinn to launch proms night

Sunderland, AFC, UK

Niall Quinn is to help launch an exciting proms night at the Stadium of Light to raise cash for “bubble” children.

Northern Proms CIC are holding a variety concert at the SoL later this year to benefit the Bubble Foundation, a charity which helps to fund high-tech treatment for tiny children.

And Sunderland chairman Quinn will join two other local celebrities – TV agony aunt Denise Robertson and Durham County Cricket Club president Tom Moffat – at a special media launch this Friday (March 28 from 1pm) at the Stadium of Light.

The variety concert, to be held on Saturday May 24 on a specially erected stage inside the SoL, will include an evening of entertainment from a host of top musicians, entertainers and groups.

All profits from the event are going to the Bubble Foundation UK, which raises funds to help children who suffer from a rare, inherited condition called Severe Combined Immune Deficiency Syndrome, or SCID, in the children’s bone marrow transplant unit at Newcastle.

Children who suffer from the deficiency are born without an immune system and cannot fight infection. The only way of keeping them safe from infection is to care for them in a “bubble” – a high-tech sterile space, measuring eight square feet.

The concert will take place within the Stadium of Light’s main internal seating bowl, located outdoor but under cover within the (main) West Stand.

The stage is erected every summer by SAFC to stage several high-profile events during the close season.

Entertainment will include Bobby Thompson tribute Tony Washington, soprano Carole Marnoch, tenor Jon Grave, the Stokes Collins School of Irish Dancing, the Tavistock Chester-le-Street Riverside Band and the Youth Connection Youth Theatre, as well as The Word, an anti-racist rap group based at Thornhill School in Sunderland.

Tickets are priced £20 for adults on the night (£15 pre-booked) and £15 for children on the night (£10 pre-booked).

Family-of-four tickets (two adults and two children) are priced £50 on the night (£40 pre-booked). Group bookings can also be made, with tickets £10 for adults and £7 for children in groups of 15 or more (pre-booked).

Meanwhile, there’s also a range of top-class corporate packages available, along with executive box opportunities, where a range of bars will be open throughout the event.

Tickets are available from Sunderland AFC on 0845 671 1973, Tom Moffat on 0191 388 0421 or Keith Moffat on 0191 3886529.

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Professor innovates gene therapy

TGRx provides jobs, brings revenue

J.J. Alcantara

Issue date: 3/25/08 Section: News

Richard Cooper, veterinary science professor, is leading students and professionals to research and develop treatments for certain genetic diseases.

Cooper, TransGenRx executive vice president of research and development, expands and enhances the way gene therapy works.

Gene therapy is used to treat individuals with single-disorder genes such as cystic fibrosis, sickle-cell anemia and certain types of diabetes.

Cooper said his technology has made gene therapy more efficient than previous methods.

“Every gene therapy trial that’s been started has been shut down because people are dying because they use viruses to transfer the genes,” said Bill Fioretti, co-founder and president of TGRx. “Those viruses have a habit of integrating to cancer-causing genes, if they integrate at all.”

Fioretti said TGRx’s gene therapy is different because Cooper’s technology has the ability to know which specific genes to change and will not cause cancer if it fails.

“[It does] it at a rate … of 100 more times efficient than traditional gene transfer technologies,” Fioretti said. “You know where it’s going to integrate and it does not cause cancer.”

Fioretti said the TGRx is the only company using this form of gene therapy because the technology is patented.

Fioretti co-founded TGRx in 2002 to license Cooper’s technology but the University also benefits.

Cooper said the University owns shares of the company and has a royalty agreement with TGRx.

“Both the AgCenter and the main campus are in the top-tier of royalty-producing income,” Fioretti said.

He said TGRx’s technology helps increase the University’s revenue because they own part of the license.

TGRx also produces protein drugs such as insulin and growth hormones for 10-20 times cheaper than the current costs using Cooper’s technology.

Cooper said TGRx uses chickens and chicken eggs to develop the protein.

He said TGRx engineers chickens to produce human proteins in their eggs.

Fioretti said TGRx’s first commercial product is a derivative of a human growth hormone.

“We will be making intermediate pharmaceutical ingredients,” Fioretti said. “We will sell that to someone who further processes it and sells it.”

TGRx partnered with the University and the AgCenter to develop this technology.

Fioretti said this partnership allows the company and the University to benefit.

He said TGRx first looks to the University before they advertise elsewhere to find graduates to work for the company.

Today, Fioretti said TGRx employs about 10 scientists who graduated from the University and about 12 student workers.

“Most [graduates] come out of biological sciences,” Cooper said. “But we’ve had a few come out animal sciences with an emphasis in poultry.”

Fioretti said as the company continues to expand, he will broaden his search for business, accounting and management graduates.

“We want to give graduates that are getting degrees in areas like molecular biology and biochemistry a place to work when they stay here,” Cooper said.

Fioretti said his long-term goal is to establish TGRx as an anchor for a viable biotech industry in Louisiana – specifically around Baton Rouge.

He said TGRx will attract support services and businesses like companies that raise poultry and purify and finish protein drugs.

“As we grow, there’ll be not just the jobs that we can provide,” Fioretti said. “Other companies that move in to provide services for us will be hiring people as we go.”

Fioretti said another goal of TGRx is to be a large-scale contract manufacturer.

“The companies that we partner with would have an interest to putting small- to medium-sized operations down here,” Fioretti said. “The whole thing goes toward not just attracting or keeping students and graduates in the state but bringing companies that will bring their workforce with them as well.”

Fioretti said this goal will help the biotech industry grow faster in Louisiana.

TGRx is currently located at the Wilson Laboratories but will soon move to the Louisiana Emerging Technology Center.

Fioretti said once the move to LETC is complete, TGRx will be able to increase their workforce.

“It’s really good for our company to have that kind of opportunity to expand in size and bring everybody together,” Fioretti said. “There’s something to be said about working in contact with all your peers and exchang[ing] ideas.”

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Contact J.J. Alcantara at jalcantara@lsureveille.com

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Blood drive remembers Calgary’s ‘Boy in the Bubble’

Joel Kom, Calgary Herald

Published: Saturday, March 22, 2008

CALGARY – A blood drive in memory of Evan Pogubila – who captured the city’s attention last year as Calgary’s own “Boy in the Bubble” – brought in 90 donations on Saturday, meeting the drive’s target to garner enough blood to help up to 270 people.

It was exactly a year ago today that Evan got his stem cell transplant, giving him the bone marrow his parents hoped would pull him through his severe combined immunodeficiency disease.

The disease, also known as SCIDs, meant that any contact Evan had with anybody could compromise what little immune system he had.

Evan died a little more than three months after the transplant, but his parents kept his memory alive by organizing a blood drive – something they plan to do annually from now on.

“If someone comes to me in the next 10 years and says, ‘Frank, I’m a bone marrow match for someone’ and donates it, that’d be like winning the lottery,” said Frank Pogublia, Evan’s father.

The drive brought in 90 people Saturday, and Pogublia hoped more people would take about an hour of their time to give blood.

The permanent clinic in the Beltline needs donors to come in on Easter Monday, either from 9 a.m. to 1 p.m. or 3:30 p.m. to 8 p.m. You can call 1-888-2-DONATE to get more information or visit http://www.blood.ca.

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Logan Wilkieson celebrates first birthday

A FIRST birthday is always a special occasion – but for one family it is a day they feared they would never see.

Little Logan Wilkieson was diagnosed with a rare life-threatening diesease in October last year.

He spent four months in hospital in Newcastle living in a bubble of clean air because the slightest infection could have killed him.

But today the smiling youngster was at home to celebrate his first birthday with his family.

It was a low key affair because Logan cannot be in contact with other children yet, and he didn’t have a cake because he cannot eat dairy products.

But he enjoyed unwrapping his presents, which included DVDs and books, and he is getting a bike from his parents and a swing and slide from his grandparents in the summer.

The past few months have been a difficult for his parents, Ruth Lawrie, aged 21, and Gareth Wilkieson, aged 22, who had to give up their home in Dale Street West, Horwich, and move to Newcastle to be near their son.

Mr Wilkieson continued to work as a door shutter fitter and travelled to Newcastle at the weekends.

But earlier this month Logan was well enough to leave hospital, after undergoing a successful stem cell transplant and blood transfusion.

Now the family are getting used to a more normal lifestyle at their home in Kendal Road, Wigan.

Miss Lawrie said: “It is brilliant that Logan has reached this milestone and we had a great day.

“A few months ago it was a bit touch and go when Logan was diagnosed with the disease, but fortunately the operation was successful.

“Things are still a bit different for Logan – everything has to be cleaned thoroughly before he can touch them and he cannot have any contact with children yet.

“But he enjoys being home and it is great to see him giggling and laughing and getting better.”

Logan suffers from severe combined immunodeficiency (SCID) which affects one in 100,000 babies.

Eventually he should go on to live a normal life.

6:45pm Friday 21st March 2008

By Amanda Smith

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Hope keeps growing in Chelmsford

By Kevin Zimmerman/Staff Writer

Wed Mar 19, 2008, 10:52 AM EDT

Chelmsford –

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Chelmsford – Sen. John Kerry, D-Mass., dropped by the Chelmsford Senior Center Sunday morning to announce his plan to file legislation to reform how Medicare helps people with primary immunodeficiency disease cover the cost of treatments.Kerry opted to make his announcement at a blood drive in Chelmsford to honor Team Hope — a local group which advocates for patients with primary immunodeficiency — and resident Stefani Bush who has worked for several years to get the word out about her children, Will and Sasha, and their debilitating illness.“Sometimes the democratic process — little D — really works,” said Kerry. “When people make their voices heard, and they come together in a community like this and they bring an awareness to something that people didn’t normally have an awareness of.”Sunday’s blood drive, sponsored by Team Hope and administered by the American Red Cross, was an effort to collect gamma globulin, a blood plasma protein that helps fight infections.

The only treatment for primary immunodeficiency disease consists of gamma globulin replacement therapy, which involves a weekly infusion of the blood product.

Under the current Medicare system, doctors do not receive full reimbursement for this costly medicine many believe helps patients lead a more normal life.

Kerry hopes to change that.

He believes because the treatment decreases the amount of time patients spend in hospitals or away from work, it ultimately saves money.

And, because primary immunodeficiency is caused by genetics, Kerry thinks it’s unfair to force families and private insurers to make up the difference in what Medicare will reimburse.

“We’re going to try to change that. There is legislation thanks to your efforts,” said Kerry. “I want to thank Team Hope. Team Hope has given hope. And it has brought an awareness to all of us. Thanks to all of you. We’re going to try to remedy this situation.”

For Bush, Sunday’s announcement comes after two years of telling anyone who would listen about primary immunodeficiency and the need to help some families pay for treatments.

“It means so much to have someone like Senator Kerry behind us,” said Bush. “Just the fact that he made a public announcement shows his commitment. He feels it is a worthy cause.”

Bush believes her job now is to keep spreading the word about primary immunodeficiency and the need to educate parents about it.

Susan Bennett, 36, of Methuen, knows education is important. She spent her whole life fighting one infection after another but no one could tell her why.

“They said it was allergies, or it runs in the family, or there’s no real reason for it,” said Bennett.

Finally, three years ago, Bennett met a doctor who ran a blood test to check for an immune deficiency. It turns out Bennett has a disorder called common variable immune deficiency. With globulin infusions, she has seen a dramatic increase in her energy level and a decrease in infections.

“I live more of a normal life,” said Bennett. “I basically got my life back.”

Team Hope works to make a story like Bennett’s the norm.

That is one of the reasons Team Hope organizes blood drives, so more people can learn about the disease and help defeat it.

Bush likens it to a quilt hanging on the wall at the Senior Center.

Although many people may have helped sew the different squares, you don’t look at a quilt as a collection of separate pieces. You need to step back and see the quilt for what it is — one complete project.

“Everybody is important, no matter how small the contribution,” she said. “It’s amazing the cascading effect one person can have.”

For more information on Team Hope and its upcoming Promise of Hope Wine Tasting on May 3, check out its Web site at www.teamhope.info.

Kevin Zimmerman can be reached at chelmsford@cnc.com.

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Way to target genes devised for gene therapy

Way to target genes devised for gene therapy

By Roger Highfield, Science Editor
Last Updated: 10:01pm GMT 17/03/2008

A way to carry out genetic surgery has been devised by a British Nobel prizewinner that is already under test on diabetic patients and being readied for use to treat Aids, blocked blood vessels and chronic pain.

So called gene therapy was hailed as a medical revolution two decades ago but progress has been slow, the successes have been hard to come by, and there have been a few deaths.

One key problem is that it has been hard to control where newly introduced genes end up in the genetic makeup of the patient – one fear is that they damage existing genes, or the way they are used.
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Now Sir Aaron Klug, a Nobel laureate working at the Medical Research Council’s Laboratory of Molecular Biology in Cambridge, has developed a more efficient way to target genes, so gene therapy can be done with surgical precision.

His team reports a new application of the gene fingers in the Proceedings of the National Academy of Sciences that it has have modified a piece of natural cellular machinery called “zinc fingers”.

These are zinc-containing proteins that bind to DNA and control how the genetic code – and the genes it contains – are read in our cells, so that a liver cell is different from a brain cell.

They have devised synthetic versions, called zinc-fingered nucleases, which have the capacity to recognise specific sequences of DNA which makes them extremely good at latching on to a specific spot, targeting particular genes without affecting others, so they can carry out genetic surgery to knock out genes or introduce new ones.

The new method is already being tested on more than 100 young diabetic patients who have lost sensation, a common complication, by the Californian company Sangamo BioSciences, after encouraging results in preliminary tests of the method to introduce a gene encoding a growth factor that can help restore sensation.

The work, backed by the Juvenile Diabetes Research Foundation, will be extended to see if it can help treat spinal injury.

Animal trials are already under way to use the same targetted gene therapy to reduce chronic pain and to knock out a gene called CCR5, the docking point used by the Human Immunodeficiency Virus to invade white blood cells, called T-cells, in AIDS patients, leading to a supply of non-infectable T-cells, which will combat HIV and the other infections which occur in AIDS patients.

Clinical trials are also in progress for stimulating the growth of new arteries in patients suffering from obstruction of the blood vessels in the limbs, which can lead to gangrene and amputations.

The new study shows they are effective at knocking out harmful genes too, also a fundamental tool for animal research to work out what genes do.

Sir Aaron explains: “The beauty of zinc-finger nucleases lies in their simplicity. Where other methods are long, arduous and often messy, it is relatively easy to switch off genes using this method.

“The zinc-finger design allows us to target a single gene, while the nuclease disrupts the gene. The single step process is extremely quick and reliable and opens up exciting possibilities for research and gene therapy.”

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