Thursday, October 14, 2010

660)Studying Tropical Genetic Blood Diseases: A Conversation With David J. Weatherall On Thalassemia; Quotes From Blogpost Four Hundred.

"In Shia Islam, intellect is a key component of faith. Intellect allows us to understand the creation of God"(Aga Khan IV, July 23rd 2008, Lisbon, Portugal)

"Islamic doctrine goes further than the other great religions, for it proclaims the presence of the soul, perhaps minute but nevertheless existing in an embryonic state, in all existence in matter, in animals, trees, and space itself. Every individual, every molecule, every atom has its own spiritual relationship with the All-Powerful Soul of God"(Memoirs of Aga Khan III, 1954)

"Nature is the great daily book of God whose secrets must be found and used for the well-being of humanity"(Aga Khan III, Radio Pakistan, Karachi, Pakistan, February 19th 1950)

"In fact this world is a book in which you see inscribed the writings of God the Almighty"(Nasir Khusraw, 11th century Fatimid Ismaili cosmologist-philosopher-poet)

"In sum the process of creation can be said to take place at several levels. Ibda represents the initial level - one transcends history, the other creates it. The spiritual and material realms are not dichotomous, since in the Ismaili formulation, matter and spirit are united under a higher genus and each realm possesses its own hierarchy. Though they require linguistic and rational categories for definition, they represent elements of a whole, and a true understanding of God must also take account of His creation. Such a synthesis is crucial to how the human intellect eventually relates to creation and how it ultimately becomes the instrument for penetrating through history the mystery of the unknowable God implied in the formulation of tawhid."(Azim Nanji, Director, Institute of Ismaili Studies, London, U.K., 1998)

http://gonashgo.blogspot.com/2008/09/400blogpost-four-hundred-knowledge.html



Quotes from article below:
What exactly is Thalassemia?
"It’s a defect in the genes that makes it impossible for hemoglobin to properly form. Of course, in the 1950s, we understood little about hemoglobin’s biochemistry. Thalassemia was, and is, a terrible disease. The children generally don’t live to adulthood — and then only with constant transfusions. In the case of this little girl, her parents eventually took her to their village in Nepal, where she died."
"Eventually, we were able to employ newly invented biochemistry techniques to work out how a gene expresses the proteins that make the molecules of hemoglobin. It would turn out that hemoglobin is made up of two different strings of amino acids, alpha and beta, that should bind together. My colleagues and I found that there are two main types of the disease due to the defects in the alpha or beta chains.



A Conversation With David J. Weatherall

Studying Tropical Genetic Blood Diseases

By CLAUDIA DREIFUS
Published: October 12, 2010

Sir David Weatherall, 77, an Oxford researcher-physician, was among the first to use the tools of molecular biology to understand thalassemia. He was in New York to receive the Lasker-Koshland Special Achievement Award for “50 years of international statesmanship in biomedical science.” A condensed version of conversations with him follows:


Q. YOU GREW UP IN LIVERPOOL. HOW DID TROPICAL GENETIC BLOOD DISEASES BECOME YOUR LIFE’S WORK?

A. In 1956, after I’d finished my medical training, I was drafted for compulsory military service. At the time, there was an insurgency in Malaya, where the Commonwealth forces were fighting the Communists, and I was not anxious to get involved with that. Nonetheless, I soon found myself on a troop ship for Singapore.

When I got there, because I had no pediatric training, the army put me in charge of a children’s ward looking after the families of Commonwealth soldiers. And there I encountered a 2-year-old, the daughter of a Gurkha from Nepal. She had profound anemia. No one understood why. We kept her alive with transfusions.

So in my spare moments, I went to the biochemistry department at Singapore University Hospital, and worked with people there to try to figure it out. Within six months, we had an answer: thalassemia. That was a big surprise. This genetic disease was thought to occur only in the Mediterranean.


Q. WHAT EXACTLY IS IT?

A. It’s a defect in the genes that makes it impossible for hemoglobin to properly form. Of course, in the 1950s, we understood little about hemoglobin’s biochemistry. Thalassemia was, and is, a terrible disease. The children generally don’t live to adulthood — and then only with constant transfusions. In the case of this little girl, her parents eventually took her to their village in Nepal, where she died.


Q. SO SHE WAS THE BEGINNING OF YOUR INTEREST?

A. Yes. The army next sent me up to northern Malaya, where the last of the fighting was going on. I used this time to search for more thalassemia. I’d construct equipment from old car batteries and filter paper, and that’s how I separated the different hemoglobins in the blood samples I’d collect. Whenever I found anything abnormal, I’d post the slides to a good old boy, Herman Lehman, at a laboratory in London. We actually found one or two more cases that way.
By 1960, when I was done with my service, I was totally hooked on genetic blood diseases. I wrote my mentor at medical school back in Britain that I wanted to go somewhere to learn more about genetics, blood and protein chemistry. He wrote back, “If you try to do this in England, you will be sent for psychiatric advice. Better go to America.”


Q. AND THAT’S HOW YOU ENDED UP AT JOHNS HOPKINS FOR FOUR YEARS?

A. Exactly. But they failed to tell me that there were no thalassemics in Baltimore! So I found myself making frequent trips to New York to locate Greeks and Italians with the gene. I’d take the blood samples back on the train and sit all night working them up.

Eventually, we were able to employ newly invented biochemistry techniques to work out how a gene expresses the proteins that make the molecules of hemoglobin. It would turn out that hemoglobin is made up of two different strings of amino acids, alpha and beta, that should bind together. My colleagues and I found that there are two main types of the disease due to the defects in the alpha or beta chains.


Q. WAS THAT THE KEY TO UNDERSTANDING THE DISEASE?

A. Yes. Later, when I returned to Britain, we and others were able to use that to develop a prenatal test for it — you looked for that imbalance of chain production. Also, in 1974, we found a form of it where there was no alpha strand present at all, causing babies to be stillborn. From that came the first demonstration of a gene deletion.

What was so important about our thalassemia research was that the techniques we pioneered became a kind of template for understanding genetic diseases. Breakthroughs from other researchers soon followed in cystic fibrosis, Huntington’s. This was an example of where studying something considered rare had truly widespread consequences.


Q. HOW COMMON IS THALASSEMIA?

A. No one knows precisely. It’s believed that there are about 60,000 births with it in a year in the poorer parts of the world. So there are hundreds of thousands of these children. What we certainly know that the impact is devastating.

That hit me very hard with the families we’ve come to know in Sri Lanka, where my Oxford research institute has a partnership to provide health care. Genetic diseases are sometimes difficult to explain, and people there are often unwilling to accept that both parents’ genes are equally responsible for the disease. The men blame the women, who suffer enormously. Lots of the families break up. There’s quite a high suicide rate, as well.


Q. WHEN YOU OFFER PRENATAL TESTING, YOU ARE ALSO OFTEN OFFERING ABORTION. IS THAT A PROBLEM IN SOME COUNTRIES?

A. It’s a problem in predominantly Catholic countries like the Philippines. It’s not been a problem in Cyprus, where 20 percent of the population carries the gene. It was a problem in Islamic countries, but that has now been rethought. In the intensely Buddhist countries, the reaction varies. In Sri Lanka, it’s not acceptable. In Thailand, they’ve come to some kind of an arrangement.


Q. IN YOUR ACCEPTANCE SPEECH FOR THE LASKER PRIZE, YOU COMPLAINED THAT MANY OF THE INTERNATIONAL HEALTH ORGANIZATIONS IGNORE GENETIC DISEASES. WHY IS THAT?

A. They don’t think enough people are impacted, so they are more interested in solving communicable diseases. Well, they are making progress with those, but they recognize that once you do that the frequency of the genetic diseases increases. As you start to control infections, you lower childhood mortality and many children with genetic diseases who might have died in their first years are living long enough to present for treatment. They have to deal with that.


Q. WHAT ARE YOU GOING TO DO WITH YOUR LASKER PRIZE MONEY?

A. Probably use it for research. I’m 77, and I’ve been officially retired since 2000. In Britain, it’s not easy to stay working when you’re older. People don’t like it, which is foolish because some researchers are burned out at 30 and then someone like Max Perutz did 100 papers after his “retirement.” But it’s hard to get grants at my stage, though I’ve been very kindly supported with a small one from the Wellcome Trust.

If I’m spared another year or two, I want to look into a form of Asian thalassemia where there’s a strong hint that a high proportion of the kids might be able to go through their lives with low hemoglobin and without transfusions. We don’t know if this is genetic or perhaps something about their environment. That’s what I’d like to sort out before I depart. And that’s what the prize will probably finance.


Sir David Weatherall, 77, an Oxford researcher-physician, was among the first to use the tools of molecular biology to understand thalassemia. He was in New York to receive the Lasker-Koshland Special Achievement Award for “50 years of international statesmanship in biomedical science.”



Easy Nash
http://apps.facebook.com/blognetworks/blog/science_and_religion_in_islam_the_link/
http://gonashgo.blogspot.com/2009/08/500blogpost-five-hundred-is-blogpost.html
http://gonashgo.blogspot.com/2009/03/453a-blog-constructed-within.html

In Shia Islam, intellect is a key component of faith. Intellect allows us to understand the creation of God: Aga Khan IV(2008)
The Qur'an itself repeatedly recommends Muslims to become better educated in order better to understand God's creation: Aga Khan IV(2007)
The Quran tells us that signs of Allah's Sovereignty are found in the contemplation of His Creation: Aga Khan IV(2007)
This notion of the capacity of the human intellect to understand and to admire the creation of Allah will bring you happiness in your everyday lives: Aga Khan IV(2007)
Islam, eminently logical, placing the greatest emphasis on knowledge, purports to understand God's creation: Aga Khan IV(2006)
The Holy Qu'ran's encouragement to study nature and the physical world around us gave the original impetus to scientific enquiry among Muslims: Aga Khan IV(1985)
The first and only thing created by God was the Intellect(Aql): Prophet Muhammad(circa 632CE)