Gene therapy research presents hope for sickle cell anemia

Scientists are used to being cautious. But I was reading this article and I was beside clapping for the science!

See, whenever we get very good results from our experiments, we always tell ourselves "let’s test this some more", "let’s confirm this in some other population". Well, let’s. But the results of this new study are so encouraging that we ought to celebrate with virtual champagne!

Gene therapy has successfully treated sickle cell anemia in mice! OK, so it’s in mice but read on first.

The scientists introduced the gene for gamma-globin into the mice’s blood-forming cells and then introduced those altered cells into  (sickle-cell anemic) mice. The investigators found that months after they introduced the altered blood-forming cells, the mice continued to produce gamma-globin in their red blood cells.

With gene therapy, the mice were able to produce their own normal gamma-globin. And there’s more. Transplanting the altered blood-forming cells from the treated mice into a second-generation sickle cell mice showed that the second generation also corrected their disease!

Again, this is in mouse models, so there’s caution in celebration. But it’s a potential eh?

Sickle cell anemia is an inherited disease caused by a mutation in a single nucleotide of the B-globin gene that unfortunately changes the resulting amino acid from glutamate to valine. That single change creates abnormal hemoglobin that causes red blood cells to form "sickle-shape". The sickle cells block blood vessels and don’t carry enough hemoglobin for the body’s requirement, leading to various medical complications.

Living with genetic disease

October 24, 2008 by Grace Ibay  
Filed under Cancers, General Genetics and Health

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Christina-applegate breast cancer Being diagnosed with a genetic disease, and one that has no cure or treatment, is probably one of most heart-wrenching news ever. To be told that one has Alzheimer’s disease for example, or one is a very high risk or diagnosis of some incurable form of cancer, what does one do? How does one handle it?

I read about Christina Applegate’s diagnosis of breast cancer, and her decision to have double mastectomy because of the high risk she carries. She kept it hidden from everyone but the closest family members and her make-up artist. I read of it weeks after her second surgery, and I have to admire her for what she did. She claims to be 100% cancer free after the surgery, and that is cause for a public applaud.

Well, new findings at the National Institutes of Health reveal that those who discuss their condition with friends and family, and caregivers who feel some measure of control, adapt best. Of course, it is a different ballgame with celebs and high profile names because they want more privacy. But for us who might be going through a diagnosis or know of our risk for certain diseases, genetic counselors will play a huge part in helping you and your families cope and understand the condition. I personally think that the first question a sincere family member asks is  - what can I do to help


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