Posted on 03/10/2010 9:39:39 PM PST by neverdem
Two research teams have independently decoded the entire genome of patients to find the exact genetic cause of their diseases. The approach may offer a new start in the so far disappointing effort to identify the genetic roots of major killers like heart disease, diabetes and Alzheimer’s.
In the decade since the first full genetic code of a human was sequenced for some $500 million, less than a dozen genomes had been decoded, all of healthy people.
Geneticists said the new research showed it was now possible to sequence the entire genome of a patient at reasonable cost and with sufficient accuracy to be of practical use to medical researchers. One subject’s genome cost just $50,000 to decode.
“We are finally about to turn the corner, and I suspect that in the next few years human genetics will finally begin to systematically deliver clinically meaningful findings,” said David B. Goldstein, a Duke University geneticist who has criticized the current approach to identifying genetic causes of common diseases.
Besides identifying disease genes, one team, in Seattle, was able to make the first direct estimate of the number of mutations, or changes in DNA, that are passed on from parent to child. They calculate that of the three billion units in the human genome, 60 per generation are changed by random mutation — considerably less than previously thought.
The three diseases analyzed in the two reports, published online Wednesday, are caused by single, rare mutations in a gene.
In one case, Richard A. Gibbs of the Baylor College of Medicine sequenced the whole genome of his colleague Dr. James R. Lupski, a prominent medical geneticist who has a nerve disease, Charcot-Marie-Tooth neuropathy.
In the second, Leroy Hood and David J. Galas of the Institute for Systems Biology in Seattle have decoded the...
(Excerpt) Read more at nytimes.com ...
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
My wife has CMT. We struggled literally for decades to find a diagnosis. Specialists of all flavors saw her and performed tests both common and exotic. Finally, about two years ago, our family doctor, in passing said, “Have you been tested for CMT?” We had never heard of it, but a genetic test through Athena confirmed it within about two months.
No cure, but we can quit chasing the brass ring of that elusive diagnosis. Thank God for that.
True, but I didn't take as the main points of the story, i.e. genome wide association studies were getting nowhere quickly, the need for whole genome sequencing and its decreasing price. They didn't have to deal with copy number variation either. IMHO, Mendelian genetics and whole genome sequencing worked in these diagnoses.
I have CMT Type 1a. I was diagnosed before Kindergarten (around 1967). The diagnosis was easy, because both my mom and sister have/had it.
Of all of the diseases to have, it could be much worse. Sure, I have to wear orthotics to be able to walk well, but thankfully, it’s not fatal (although my aunt who has it has been diagnosed with phrenic nerve involvement; that’s the nerve that stimulates the diaphragm in order to breathe).
I also have another autosomal dominant disease-Polycystic Kidney Disease. I had a kidney transplant in May 2008 and am doing great.
Hope your wife is doing well.
Thank you for the thought. Over time she has had a BK amputation, lost two toes on the other side, both hip have been replaced, and wounds heal very slowly. No diabetes. Her problem now is worsening pain with the passage of time and spreading to different areas. Neural stimulator helped for a while. Now, it is pretty much morphine sulphate several times daily.
I hope you never experience worse that you already have. God bless.
Do they attribute all of this to the CMT? I have the most common form (Type 1a), but there are other forms that are more debilitating. Sorry to hear of all of the troubles she (and you) have been going through.
From a letter from a neurophysiologist, “The study came up with two unknown variants of genes GDAP1 and MFN2.”
A wide, wide, wide array of tests over as long as 25 years have almost universally resulted in a “normal” finding. Yet, something is seriously and progressively wrong.
An internet search for those two genes results in long lists of articles on CMT. What my wife has is apparently an “as yet to be described variation.”
For those 25 years our life has been like the ball in a pinball game. The various bumpers and flippers and chutes and channels are like doctors who perform tests ... the results are normal, but ... ping! ... let’s send you to doctor so-and-so ... maybe he can help! Only to have more tests come back normal. Then ... ping! ... away you go to the next doctor. Same result. And, then with great hope, away you go again. Like a pinball machine.
Something is wrong, but all is normal. All but the abnormal genes, that is.
Well, I don’t want to sound like I’m whining. It is what it is!
Sounds like a case on “Mystery Diagnosis”.
Have you considered seeing an expert in CMT?
I would do that in a heartbeat. I know we would benefit by speaking to someone who has experience. Wife says she is tired of going to doctors just to be sent to other doctors. It still is a work in progress. We’ll see where it all goes.
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