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Genetic Mutation Found in 1% of Population Almost Guarantees Onset of Heart Disease

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by keith kleiner on January 19th, 2009
heart disease

heart disease

The Wellcome Trust Sanger Institute today published a press release presenting the discovery of a gene mutation in roughly 1% of the world population that virtually guarantees the onset of heart disease in its carriers.  Heart disease is the leading cause of death in the United States and in many other developed nations.  Nearly 700,000 Americans die every year from heart disease, accounting for nearly 1 in 3 U.S. deaths (1).

The mutation, a deletion of 25 letters of genetic code from the heart protein gene MYBPC3, is virtually restricted to people from the Indian subcontinent.  Roughly 4% of those with a genetic lineage from the Indian subcontinent carry the mutation, which equates to about 60 Million people, or 1% of world population.

The discovery of this gene is just the tip of the iceberg of what is to come in a new era of cheap and fast genetic analysis.  Armed with the exact gene and therefore the exact mechanism by which 60 million people are destined to acquire heart disease, we can now work on therapies for saving them.

From the press release:

Scientists express this genetic risk as an odds ratio, where 1.2 would be a small effect and 2.0 a large one. For the MYBPC3 mutation, the odds ratio is almost off-scale, a staggering 7.0. Carriers usually show few symptoms until middle age, but after that age most are symptomatic and suffer from a range of effects, at worst sudden cardiac death.

“The mutation leads to the formation of an abnormal protein,” explained the study leader, Kumarasamy Thangaraj from the Centre for Cellular and Molecular Biology, Hyderabad, India. “Young people can degrade the abnormal protein and remain healthy, but as they get older it builds up and eventually results in the symptoms we see.”

Another Step in the March Towards Designer Babies

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by keith kleiner on January 10th, 2009

pgd genetic screeningThe Herald and other major outlets are reporting that the “UK’s first genetically selected baby has been born.”

This sensational claim is misleading since the practice of genetically screening embryos, as was done in this case, has been commonplace for over a decade now.  Such screening, called PGD,  is almost exclusively used to look for debilitating characteristics in the embryo, such as cystic fibrosis.  What is unique about this particular baby is that the embryo was screened not for a true debilitating disease, but rather for a gene that could potentially be harmful later in the child’s life.  The gene, called BRCA1, increases the risk of breast cancer in females by as much as seven times.

This genetically screened baby represents a decisive step down the slippery slope of screening embryos not only for genetic defects that are seriously debilitating, but also for genetic traits that are simply risky or undesirable.  Future “parents to be” in the UK and elsewhere may use this as a precedent to support the screening of all sorts of other traits.  Screening for genes that are completely unrelated to disease, such as height or intelligence, is therefore a step closer to reality.  Selection of the sex of an embryo has long been a widespread practice, serving as another precedent for more relaxed limitations on embryo screening.

For those that want to know more about the field of pre-screening embryos a detailed explanation follows:

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Vision Restored to Blind Patients in Gene Therapy Breakthrough

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by keith kleiner on January 9th, 2009

The emerging field of gene therapy took a huge leap forward in 2008 when vision was substantially restored to several blind patients. 

The patients in the study suffer from Leber’s congenital amaurosis (LCA), a rare inherited eye disease caused by a defective gene called RPE65. The condition appears at birth or in the first few months of life and causes progressive deterioration in vision.  Until now there have been no effective treatments available.

Below is an excellent “must watch” video from CBS documenting this amazing breakthrough, followed by further details and comments:

 

 

 

 

 

 

 

 

 

 

Normally, cells in the eye activate the RPE65 gene to produce an enzyme necessary for the function and health of a protective layer of cells underlying light- and color-detecting photoreceptor cells in the eye.  Patients with a defective RPE65 gene are unable to produce this enzyme, leading to photoreceptor cells that are otherwise healthy but unable to do their job.  Over many years the photoreceptor cells themselves steadily become damaged beyond repair. 

Researchers theorized that if they could “upgrade” these photoreceptor cells with the non-defective gene then damage to the photoreceptor cells would cease and any remaining healthy cells would regain their ability to function.  A virus was used to inject the functioning gene into the target cells and within a week vision improved and remained so after 90 days — the study’s endpoint.

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