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I keep hearing that MSA is so rare, as a

reason for the lack of research, funds, etc. But surely the “bubble boy disease” is more rare than

MSA! Anyway it looks like

someone somewhere is making progress with stem cells.

This article was in our newspaper yesterday.

Jim

Posted on Fri, Jun.

28, 2002

New gene restores

immune system

By PAUL RECER

The Associated Press

WASHINGTON - A single injection of

genetically modified stem cells is all it took to cure two children of a

complex form of an inherited immune system disorder often referred to as the

" bubble boy disease, " researchers report.

An experimental

technique that altered genes in bone marrow stem cells restored the immune

systems of the children, researchers from Italy and Israel reported in the

journal Science. The children were born with what experts said was the most

complex form of severe combined immunodeficiency disorder, or SCID.

" Both children

have been cured, but ... both will be closely followed to see how it develops

in the future, " said Grazia Roncarolo of the San Raffaele Telethon

Institute for Gene Therapy in Milan, Italy.

The children, who were

7 months and 2 1/2 years old when the therapy began, were released with

healthy, functioning immune systems 15 months to 24 months ago, Roncarolo

said.

Their form of SCID

was caused by a gene flaw that blocks production of an enzyme called ADA,

essential to the body's production of disease-fighting immune cells.

The treatment

consisted of removing stem cells from the bone marrow of each patient,

inserting a normal gene for ADA into the stem cells and injecting the new

cells into the patients. A chemotherapy drug was used to encourage the

migration of the modified cells back to the bone marrow.

The children's bone

marrow soon began producing normal disease-fighting blood cells. Within

months, their immune systems overcame common childhood infections that had

not responded to treatment.

French researchers

an-nounced in April that they had corrected genetic flaws in the immune

systems of five boys who had X-linked SCID, the most common form of the

immune system disorder.

ONLINE: Science: www.sciencemag.org

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Jim,

You know, I have been having the same thoughts. ALS gets much more attention, and I just read that about 30,000 in the US have ALS -- the estimate for MSA is 25,000 to 100,000. At the Boston conference we learned that 20% of patients with Parkinsonism (not Parkinson's disease) actually have MSA, although many are misdiagnosed as having Parkinson's disease or are still seeking diagnosis.

I have two thoughts on this dilemma. First, kids born with rare disorders are much more sympathetic than adults who develop disorders later in life. This is especially true of kids who look normal, like the bubble-boy kid. Second, no one famous has had MSA. Look at the attention Dudley brought to PSP, J. Fox to Parkinson's and Lou Gerhig to ALS. I certainly don't wish this disease on anyone, but if someone famous happens to get it would be a boon to name recognition and probably to research.

Carol & Rob

Lexington, MA

Stem Cell research

I keep hearing that MSA is so rare, as a reason for the lack of research, funds, etc. But surely the “bubble boy disease” is more rare than MSA! Anyway it looks like someone somewhere is making progress with stem cells.

This article was in our newspaper yesterday.

Jim

Posted on Fri, Jun. 28, 2002

New gene restores immune systemBy PAUL RECERThe Associated Press

WASHINGTON - A single injection of genetically modified stem cells is all it took to cure two children of a complex form of an inherited immune system disorder often referred to as the "bubble boy disease," researchers report.

An experimental technique that altered genes in bone marrow stem cells restored the immune systems of the children, researchers from Italy and Israel reported in the journal Science. The children were born with what experts said was the most complex form of severe combined immunodeficiency disorder, or SCID.

"Both children have been cured, but ... both will be closely followed to see how it develops in the future," said Grazia Roncarolo of the San Raffaele Telethon Institute for Gene Therapy in Milan, Italy.

The children, who were 7 months and 2 1/2 years old when the therapy began, were released with healthy, functioning immune systems 15 months to 24 months ago, Roncarolo said.

Their form of SCID was caused by a gene flaw that blocks production of an enzyme called ADA, essential to the body's production of disease-fighting immune cells.

The treatment consisted of removing stem cells from the bone marrow of each patient, inserting a normal gene for ADA into the stem cells and injecting the new cells into the patients. A chemotherapy drug was used to encourage the migration of the modified cells back to the bone marrow.

The children's bone marrow soon began producing normal disease-fighting blood cells. Within months, their immune systems overcame common childhood infections that had not responded to treatment.

French researchers an-nounced in April that they had corrected genetic flaws in the immune systems of five boys who had X-linked SCID, the most common form of the immune system disorder.

ONLINE: Science: www.sciencemag.org

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Jim,

Good article, be aware that this type of research would be banned in the

USA under the Brownback Bill now before the Senate. And if a cure was

found, your doctor could be fined and thrown in jail for even telling

you about the cure.

Take care, Bill Werre

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