Craig Hitchens Therapies - Health Online

I read about Jessa Perrin’s story and was struck with how her world was turned upside down by a rare disease.

Jessa Perrin was backpacking in Israel when she suddenly became ill. Her skin turned yellow and her liver, kidneys and lungs failed within a day of being admitted to the hospital. She wasn’t even diagnosed with anything yet, but she needed liver transplant fast, or else she was not going to last a week.

The doctors finally diagnosed Jessa with Wilson’s Disease, a rare, recessive genetic disorder that shuts down the body’s ability to get rid of copper. Jessa inherited two abnormal copies of the ATP7B gene, one from each of her parents (who were carriers). Because it’s a recessive trait the carrying parents do not have any symptoms and have no known family history of the disease. Symptoms begin to appear from aged 2 to 72 years, since it takes a while before the body accumulates so much copper before it causes organ damage. Some of the symptoms are:

• swelling of the liver or spleen
• jaundice, or yellowing of the skin and whites of the eyes
• fluid buildup in the legs or abdomen
• a tendency to bruise easily
• fatigue

Jessa Perrin was fortunate that she was able to get a new liver and be treated for other symptoms of Wilson’s disease. Her sister was also fortunate – she was found negative for the abnormal alleles.

Here are some points to remember about Wilson’s Disease (source: NIH):

• Wilson disease prevents the body from getting rid of extra copper.
• Wilson disease first attacks the liver, the central nervous system, or both.
• Anyone with unexplained liver disease or neurologic symptoms with evidence of liver disease should be screened for Wilson disease.
• Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body.
• If the disorder is detected early and treated effectively, people with Wilson disease can enjoy good health.

Post from: Genetics & Health

Every blogger will wish he has this gene! Scientists discovered a rare genetic mutation that allows certain people to sleep on less hours without any adverse effect. In one family, a mother and daughter with this rare mutation needed only six hours of sleep each night while the rest of the family needed the typical 7-8 hours.

Gene for Short Sleeper Found. Image: sxc

Published in Science, researchers from the University of California- San Francisco isolated the gene as DEC2, involved in the regulation of circadian rhythms, the body’s clock. The scientists then bred mice and fruit flies that carried the mutation and found the mutant mice slept less and needed less time to recover from sleep deprivation.

According to health experts, a typical adult needs at least 7-8 hours of sleep each night for the body to function properly. Chronic sleep deprivation has long term effects on our health, relationships, handling of stress and quality of life. Sleep deprivation also increases the risk to injuries, and is responsible for thousands of automobile crashes each year. And if sleep deprived people also harbor a gene called PER3, then they will also have issues with cognitive function.

And bloggers? Ha-ha. It’s common knowledge that we don’t sleep, but maybe someday a drug will be invented from this research that will block the normal gene and help us to sleep less and still feel great the next day. Or at least reset our body clock.

Meantime, this blogger will have to contend with getting enough sleep.

via: Yahoo; Image: sxc

Post from: Genetics & Health

It’s tough enough for a family to have someone suffer from a genetic disorder but to have three in the family is just heart-breaking. And that’s what the Shaffer family from Oregon is going through as their three young sons are treated for a rare genetic condition that affect the nervous systems (video). Two 8-year old twins and their younger brother have leukodystrophies (adrenoleukodystrophy or ALD), a disorder that causes damage to the membrane (myelin sheath) that surrounds nerve cells in the brain.

Adrenoleukodystrophy is commonly inherited as an X-linked (or sex-linked) trait, as the gene is located on the X-chromosome and passed from mother to her children. If the mother is a carrier (say XX for one abnormal allele), then she will pass that defective gene to all her sons (XY). Her daughters will have a 50% chance of inheriting the defective X.

Although inherited at conception, the X-ALD can manifest in early childhood (age 4-10) or adulthood (age 21-35), but the onset in children is most severe. Symptoms include progressive stiffness, weakness or paralysis of the lower limbs, and deterioration in brain function. Carrier daughters exhibit the milder forms of the disease but the sons will experience the most severe symptoms because they don’t have the protection of one normal X allele.

"Most of the boys that have this disease look absolutely fine until they’re school aged, so 6 to 8, 10, then they develop progressive neurologic symptoms. Actually it’s a lethal disease. They tend to go downhill relatively quickly and die within a few years," said Dr. Paul Orchard of the University of Minnesota Amplatz Children’s Hospital.

The Shaffer boys were diagnosed early, so they have better prognosis for treatments. The family is staying at the Ronald McDonald House in Minnesota while they’re being treated. And you’re heart would just go out to these playful boys who have so much to go through at a young age.

For more of Adrenoleukodystrophy:

The Adrenoleukodystrophy Foundation

NIH Information on Adrenoleukodystrophy

via: WCCO; Image: Newscom

Post from: Genetics & Health

Thirteen years and US $10 billion later, the first of several human genomes were completely sequenced in 2003 in what is now known as The Human Genome Project. From then on, scientists dreamed of and aimed to get the cost of DNA sequencing down to $1,000 per person.

Although the running cost was around $250,000 per genome last year, well, that’s still thousands more expensive than most people can afford. No wonder only seven people have had their DNA fully sequenced!

But that could all change from now on. A whole genome has been sequenced for only $50,000. Stanford engineer Stephen R. Quake invented the Heliscope Single Molecule Sequencer and sequenced his own DNA in one week – one short week! – using only three staff personnel, which was much faster and cheaper than first projected.

Of course the machine itself costs $1 million (“depending on how hard you bargain”), but the cost to sequence is now $200,000 less than the current market.

Why all the craze to sequence one’s own genome? As part of the growing trend in personalized medicine, decoded genome can reveal disease and environmental risks specific to your genetic make-up, which can help with a genome-specific or “personalized” approach to prevention, diagnosis and treatment. Well, at least that’s the goal… meantime, your DNA can also be sequenced as art for only $200.

Image: Newscom

Post from: Genetics & Health

Just a short note and congratulations to Dr. Francis Collins for being confirmed as director of the National Institutes of Health.

Francis Collins is new NIH director

According to the Associated Press, Collins was confirmed by the US Senate yesterday via voice vote (say “aye” or “nay”), so I’d have to say this was an even easier confirmation than Judge Sonia Sotomayor, who took her oath today from Chief Justice Roberts as the first Hispanic justice of the US Supreme Court after a non-event of hearings.

Collins is a familiar face and name at the NIH, having been one of the prime-movers of the human genome project as head of the Human Genome Research Institute for 15 years. He also authored the controversial book “The Language of God: A Scientist Presents Evidence for Belief ” which led to the BioLogos Foundation, a website attempting to bridge the gap between religion and science.

If you Google Dr. Collins’ name you’ll come up with a long list of accomplishments, so he would be perfect for this job especially in this new age of  personalized medicine. But to NHRGI insiders, he is well-known for something other than science. Once every year, this rock-star (wannabe?)  performs for his fellow colleagues and students. He dances, does stand-up comedies and sings with his guitar – and it brings the house down! So I’m sure this is one of the perks he’ll bring with him to the NIH director’s chair.

Erm. You’ve been warned.

PS: you may also bump into a leather-clad version on a motorcycle… You’ve been twice-warned.

Image: NHGRI

Post from: Genetics & Health