June 2007 Archives
The first ever talk about NEMO.
Immune Deficiency Foundation conference at St. Louis by Dr. Jordan Orange
Pioneers: someone who went to an area before it was settled.
If you can keep your head whell all about you
are loosing theirs and blaming it on you.
If you can trust yourself when all men doubt you
but make allowance for their doubting too;
If you can wait and not be tired by waiting
or being lied about, don't deal in lies,
or being hated don't give way to hating
and yet don't look to good, nor talk too wise;
If you can dream and not make dreams your master;
if you can think and not make thoughts your aim
If you can meet with triumph and disaster,
and treat those two impostors just the same;
if you can bear to hear the truth you've spoken,
twisted by knaves to make a trap for fools
or watch the things you gave your life to broken,
and stoop and build'em up with worn out tools;
If you can make one heap of all your winnings
and risk it on one turn of pitch and toss
and lose, and start again at your beginnings
and never breathe a word about your loss;
If you can force your heart and nerve and sinew
to serve your turn long after they are gone
and so hold on when there is nothing in you
except the will which says to them: hold on!
If you can talk with crowds and keep your virtue
or walk with kings nor lose the common touch
If neither foes nor loving friends can hurt you
IF all men count with you, bot none too much;
If you can fill the unforgiving minute
with sixty seconds worth of distance run,
yours is the Earth and everything thats in it
and what is more, you'll be a Man, my Son!
Rudyard Kipling
Sofía is three years old and full of energy, we can see clearly that saving her brother’s life was only the beginning...
Genetic testing of embryo seen safe for offspring
By Anne Harding
NEW YORK (Reuters Health) - A new study provides "reassuring" evidence that babies born from in vitro fertilization with preimplantation genetic diagnosis (PGD) -- in which a cell or two are removed from the developing embryo to screen for genetic problems -- are not at increased risk of birth defects.
However, the rate of stillbirth and early neonatal death in PGD pregnancies was higher than would have been expected among children conceived through in vitro fertilization who didn't undergo PGD, or among infants conceived naturally.
"For me it's reassuring, but I think we have to continue with this follow-up, specifically with regard to the stillbirth rate," Dr. Ingeborg Liebaers of the Research Centre for Reproductive Genetics at the Free University of Brussels in Belgium, the study's author, told Reuters Health.
Liebaers presented the findings, on 583 births at the center after PGD of the embryo, this month at the European Society of Human Genetics' annual meeting in Nice, France. The study is the first, Liebaers said, to look at a large group of children treated at a single center, although she said there have been follow-up reports from multiple centers that also produced "reassuring" results.
Couples who are at risk of certain genetic defects may choose to undergo assisted reproduction with PGD. In the procedure, a single sperm is injected into an egg (a technique called intracytoplasmic sperm injection, or ICSI) and then a cell or two is removed from the developing embryo to check for genetic problems. Embryos that are free of known defects are then transferred to the uterus.
Concerns have been raised that children born after PGD would face a higher risk of malformation, given that the procedure involves removing cells from an embryo, Liebaers noted in an interview. However, the rate of malformations found in the group in the current study -- 3.6% -- was no higher than among children born after IVF who did not undergo PGD.
However, 20 of the PGD babies were stillborn and nine died as newborns, a rate higher than that seen after IVF and ICSI without PGD. The risk was particularly high for multiple births, with 23 of the 29 deaths occurring in multiple pregnancies.
Liebaers and her colleagues are performing additional studies to attempt to identify the cause of the higher death rate, and are also following the live born PGD infants to see if they remain healthy and develop normally.
More via Reuters here.
Article published yesterday at The Journal of Clinical Investigation (where Dr. Orange published the NEMO article about Andy) from Dr. Alain Fischer regarding gene therapy.
I called Dr. Fischer once about 5 years ago and he told me he was not ready to use gene therapy to treat children with NEMO.
In this article he mentions NEMO:
Within the past 10 years, spontaneous, partial corrections of the phenotype of severe T cell immunodeficiencies (e.g., ADA deficiency, SCID-X1, Wiskott-Aldrich syndrome, RAG1 deficiency, CD3 deficiency, and NF-κb essential modulator (NEMO) deficiency syndrome) have been reported
And then he says,
These results constitute a strong rationale for the development of a gene therapy approach that recapitulates these rare spontaneous events.
His trials:
Between 1999 and 2002, 10 children with SCID (Severe Combined Immune Deficiency) under the age of 1 were enrolled into a gene therapy clinical trial with Dr. Fischer.
9 children developed corrected T and NK lymphocytes
7 of the 9 developed T cells and their counts were normal within 3 months and are still normal now.
2 of the 9 experienced partial T cell reconstitution.
Now, 7.5 years later, these 7 patients retain a functional immune system, enabling them to live normally.
There is a new trial and 20 children enrolled.
17 out of the 20 have been successfully treated in London and Paris.
WOW
Find the article here.
What a great surprise to see Dr. Orange at the cover of The National Newsletter of the Immune Deficiency Foundation. It means that the IDF is doing things right.
Download House
Great program!
Its all about the possibility!
My notes regarding stem cell research talk by Sir Paul Nurse, George Daley, Doug Melton, Larry Goldstein, Story Landis at the Charlie Rose program:
"The aim of all this is to revolutionize medical treatment and understanding of disease"
"Learn about mechanisms of diseases."
"Develop new therapies."
"Repair degenerative diseases."
"Stem cells are the units of life."
"Deliver cells as medicines.. a mayor impact of medicine"
Dr. Daley regarding bone marrow transplants:
"Too old or they don't have a match. No siblings..
The right transplant is the genetically identical transplant.. The patients own cells."
One of the most promising fields of science: stem cell research. The panel discusses existing successes in the use of stem cells, such as bone marrow transplants, and the hopes for future applications of both adult and embryonic stem cells, both as a way to model and study disease and a possible treatment for a variety of conditions, such as heart and blood disease, diabetes , Parkinson's, Lou Gehrig's disease, Alzheimer's, spinal cord injuries, and cancer.
