June 2004 Archives

From a very reliable source, I have found out that in the entire history of Mexico, 397 cases of immune deficiency have been diagnosed.
There are more than 100 million Mexicans. Statistically, and by nature, (data from the Jeffrey Modell Foundation), one of every 500 people is born with a primary immune deficiency.
This means that today there are about 200 thousand people in Mexico that do not know or did not known that they had a primary immune deficiency. Surely, they are being treated with inadequate medicines.
What do you think?

Translation by Eugenia Gutierrez Ortiz Mena - Genesis Translations

De muy buena fuente me entero que en toda la historia de México se han diagnosticado 397 casos de inmunodeficiencias primarias.
Somos mas de 100 millones de mexicanos. Estadisticamente y por naturaleza (datos del Jeffrey Modell Foundation) una de cada quinientas personas nace con una inmunodeficiencia primaria.
Entonces el dia de hoy, hay por ahi 200 mil personas en México que no saben o no supieron que tenian una inmunodeficiencia primaria. Seguramente se les está tratando con medicamentos inadecuados.

Que opinas?

FELICIDADES!!
Mis papás cumplen más de 14,600 días y 350,400 horas de casados. Por lo menos llevan 116,800 horas uno alado del otro (durmiendo juntos).

Researchers Bid to Screen Embryos for Cancer, by Ben Mitchell, PA News.
Scientists in the UK are preparing to seek permission to screen embryos for genes that lead to breast and bowel cancer to enable parents to prevent placing their children at risk of the diseases, it emerged today.
“If someone has the gene, they have a high risk of having bowel cancer.The whole idea is to select the embryo that doesn’t have the gene so the woman can start their pregnancy knowing the baby is safe.”
The founder of Core (Comment on Reproductive Ethics), said: “By the time these embryos have reached the age when they are at risk of breast cancer, medical science will have advanced by 30 years and we may even have a cure.“What we are doing here is getting away from the concept of curing disease and towards eliminating the person with the disease.”
But defending the proposed process....(they) said it was an extension of the IVF treatment which had become part of mainstream medicine.
He said: “If we have a family that has a genetic make-up that is pre-disposed to cancer, with current technology, it is not unreasonable to run the idea with the patient and let them decide. “I disagree with Mickey Mouse people saying it is meddling with nature, it is simply a selection process to try to get rid of these genetic diseases.”

The "Core" comment is wrong. Following that train of thought, we wouldn’t have antibiotics to assist in infections. It's a choice, and the affected couples should make their own decisions.

ATF

Embryo test to cut cancer risk, by Mary Papadakis, June 27, 2004.
Using embryos without faulty forms of genes BRCA1 and BRCA2 - also linked to ovarian cancer - would cut the risk of a child developing breast cancer ...
Professor Bob Williamson said yesterday that screening for gene defects was a major progression for women prone to breast and, to a lesser degree, ovarian cancers.

"This is exciting because it is one more advance based on the human genome project that allows people to avoid a gene mistake that passes on a serious disease to their children," he said. "This is not a test for a perfect baby," he said.

"It's a test to see whether a baby can inherit a very serious disease. "Most breast cancers are not due to these mutations. BRCA1 and BRCA2 account for about 5 per cent," he said.

This will be helpful for people that already know that they have the BRCA1 & BRCA2 gene mutation. But if only 5% of breast cancer cases are caused by mutations on these genes, they need to find the other genes that cause breast cancer.

ATF

"New Jersey takes the unprecedented step of including funding for stem-cell research in its state budget. The move is controversial, because it allows the state to pay for embryonic stem cell research and circumvent federal government funding guidelines. Barbara Mantel reports."

And what will Mr. Bush say??

Hear the story here.

ATF

"Dawn of baby-to-order era.
Doctors last night announced a test that would allow women with a high genetic risk of breast cancer to choose an embryo that will ensure the risk is not passed on to their daughters."
The Times claims that the possibility of designer babies has moved a step closer to reality.
A new test would allow women with a high genetic risk of breast cancer to choose an embryo that will ensure the disease is not passed on to daughters.

This would mean that these doctors know the exact genetic condition that causes breast cancer. Good news!

ATF

What if my insurer knew that I have a gene that predisposes me to diabetes? Will they cover me?

Theres a very interesting article today from switzerland:

"Insurers are to be granted access to genetic tests, but only in cases involving large life insurance policies. Parliament approved the measure on Wednesday as part of a series of proposals designed to tighten legislation on genetic testing for hereditary diseases."

I wonder where this will go...

Find the article here.

ATF

From the Washington Times today,

"Above all, we must look to the future not with fear, but with the hope and the
faith that advances in medicine will advance our best values," John Kerry said.

Yesterday the New England Primary Immune Network NEPIN invited us to a harbor cruise that departed from the Boston Aquarium. On the boat I had the priviledge to speak to whom a lot of people consider, the most important pediatrician in the United States and the best immunologist in the world. I asked him for his opinion on the government restriction on stem cell research and his response was that "its a matter of stupidity".

I agree! Restriction on stem cell research is stupid.

ATF

Andy will walk for Children's Hospital Boston, Sofia will follow on her stroller...

This is the second Miles for Miracles Walk and will be on June 19. Its a 7-mile walk, "a celebration of children's health", and it begins and ends at Lederman Field.

We will see there Farley the Tortoise and Hunne the Hare.
Pictures from last year walk, including the famous Spider Man picture can be found here.

Funds raised from Miles for Miracles will support Children's Hospital Boston and its effort to provide children's health care.

ATF

I've received 34 responses out of 100 letters sent to the first Fortune 500 corporations in the United States.

The idea came out when we started the fundraising efforts for the Kids at Heart Marathon Team from Children's Hospital Trust. We teamed up with Elyse and Brian who dedicated their marathon race to Andy and also raised funds for the hospital.

Elyse website www.elyse4andy.com
Brian website www.brian4andy.com

I decided to create this letter to the Fortune 500 CEO's and I asked Dr. Samuel Nurko, Dr. Raif Geha and Carole Ferguson-Page to do one also.

I printed and prepared the envelopes that went out around February, 2004.

I'm amazed that 33 responded! Some of the responses are very inspiring. Some even called me on the phone like CVS Pharmacy who told me that they are already helping Children's Hospital with more than 250,000 dollars.

I found that the majority of the CEO's after receiving the letter forward it to their corporations foundations. There, the director examines the letter and sends a response. Some of them are standard responses, but there are others that really make a difference. We appreciate their attention.

Next time I will send letters to celebrities.

Copies of the letters, emails and even voice mails (except CVS Pharmacy which was a telephone conversation) are here.

ATF

Clinic in US isolates 50 lines of stem cells, by Gareth Cook, Globe Staff , June 9, 2004.

Gareth Cook said,
"A private Chicago fertility clinic is set to announce this week that its scientists have isolated 50 new lines of human embryonic stem cells, part of an ambitious effort to create specialized colonies of cells that could help uncover cures for muscular dystrophy and other genetic diseases."

We decided not to donate embryonic stem cells to RGI, because first of all they did not do the IVF procedure, we did that here in Boston, and also because we didn't have details about their research.

I wish we could find more people with a NEMO mutation. This would bring more people thinking about options for a cure.

The article continues,
"Critics have said that the destruction of embryos to create stem cells amounts to the taking of human lives, and on Aug. 9, 2001, Bush said the government would fund research only on human embryonic stem-cell lines that had already been created.... Verlinsky said he intends to make all the cell lines created at the institute available to other researchers......a Globe survey found that 128 cell lines had been created since the Bush ban on working with new cell lines. "

In the near future stem cells will give medicine in general a very important boost. Doctors will be able to give their patients new options to cure diseases and fix disabilities. I guess that anyone taking care of any other currently or in the past that suffers a terminal disease will agree that stem cell research is urgently needed. I think that what Mr. Bush is saying is that the US goverment is not providing funds for stem cell research. And from what I understand any private laboratory can do stem cell research with their own money. Its not a crime!

ATF

Healthy babies for disease carriers, by JUDY SIEGEL-ITZKOVICH, Jun. 5, 2004 23:10

The author describes the case of the first woman to use PGD to find a healthy baby.
"A Jerusalem woman suffering from myotonic dystrophy is due to give birth in December to a healthy baby identified as a normal ovum and two-day-old embryo by a unique but complicated polar body pre-gestational diagnosis (PGD) that weeded out those with the disease. Shaare Zedek Hospital, which is the first and only place in the country and one of the few in the world to perform the technique..."

"Although known genetic diseases in newly created embryos can be identified by removing one cell from an eight-cell blastomere mechanically or by using lasers, the error rate can be relatively high and damage could be done to the embryo. But testing polar bodies, which are microscopic and unnecessary cells on the unfertilized and fertilized egg that will in any case degenerate, has been found to be much more accurate."

We used both... biopsy and polar bodies..

"It has done what Harvard has not yet managed to do. The technique can be used to detect any genetic mutation, either a disease caused by one molecularly analyzable gene or several."

I think Harvard does manage this..

Find the complete article here (requires subscription to the Jerusalem Post)

Testing new hope for IVF success By ZOE TAYLOR Medical Reporter, June 7, 2004

In this article Zoe Taylor describes PGD as a "world-first trial". I guess that the clinic (Sydney IVF) didnt explain to the reporter that there are more than 1,000 babies born using PGD.

"Several hundred women under the age of 37 will take part in the clinic's year-long trial. Half of the women will have their embryos screened using PGD. The rates of pregnancy, miscarriage and live births will then be compared with women not offered the extra screening. For the duration of the trial, there will no extra cost for the PGD screening. If successful, PGD screening could become standard for all IVF cycles.
"We are very excited," Dr Bowman said. "We are hoping that, by better embryo selection, our success rate will improve."

Free PGD! GOOD!

Find the complete article here

The Journal of Clinical Investigation found today 2 articles citing Dr. Orange research on NEMO.

Dr. Orange's article is "Deficient natural killer cell cytotoxicity in patients with
IKK-{gamma}/NEMO mutations" published in 2002.

And the articles are:

Combined deficiency in I{kappa}B{alpha} and I{kappa}B{epsilon} reveals a
critical window of NF-{kappa}B activity in natural killer cell
differentiation
Samson, S. I., Memet, S., Vosshenrich, C. A. J., Colucci, F., Richard,
O., Ndiaye, D., Israel, A., Di Santo, J. P.
Blood 2004 103: p. 4573-4580

From the Unité des Cytokines et Développement Lymphoïde and Unité de Biologie Moléculaire de l'Expression Génique, Institut Pasteur, Paris, France.

and,

X-linked ectodermal dysplasia and immunodeficiency caused by reversion
mosaicism of NEMO reveals a critical role for NEMO in human T-cell
development and/or survival
Nishikomori, R., Akutagawa, H., Maruyama, K., Nakata-Hizume, M.,
Ohmori, K., Mizuno, K., Yachie, A., Yasumi, T., Kusunoki, T., Heike,
T., Nakahata, T.
Blood 2004 103: p. 4565-4572

From the Department of Pediatrics and Laboratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan; Department of Pediatrics, Hyogo Prefectural Tsukaguchi Hospital, Tsukaguchi, Japan; Department of Pediatrics, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan; and Department of Laboratory Sciences, School of Health Sciences, Faculty of Medicine, Kanazawa University, Kanazawa, Japan.

ATF