10.23.09
Posted in Uncategorized at 7:38 pm by Luis
I find it very interesting that today’s big news has to do with why only humans have the capacity for language. First found in a vocally-impaired family, scientists discovered a large gene they named “TOSPEAK” that may explain how humans are the only primates to develop language.
Interesting I say because effective today, Genetics and Health will be retired, and in a nostalgic way, this is my last time “to-speak”.
Even then, the field of genetics has never been so exciting as these times. Genetics has spread into the language of cancer, HIV/AIDS, behavior/psychological issues from smoking to addictions, from autism to chronic health problems, infections like the H1N1 and MRSA, organic versus modified foods, our children’s sex, paternity issues, and what “bad” genes our children might carry. We’re using genetics to tell us how we want to live as we grow old. We’re “viewing” our genome through personalized medicine to help us prepare for what diseases we’re at risk of getting, and passing on. And did you know that people react to medicine in different ways based on certain genes they carry? Uh-huh.
And yet, genetics still lacks the audience it needs to be well understood and accepted as part of our healthcare decisions. Today, I read that physicians still don’t utilize genetics in providing treatment for their patients. And many are misinformed about the H1N1 flu virus and its vaccine so they’re scared to get immunized. They have concerns that are totally understandable and yet scary, as the world deals with more than 5,000 deaths from the H1N1 virus as of today.
Anyway, I am rambling on when I should be saying goodbye. I will definitely continue speak for genetics at some other venues. Hopefully someday the world will learn, too.
Talk to you later.
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Posted in dna at 4:32 am by Luis
Scientists found a tiny mutation on a key gene that could potentially lead to type 1 diabetes, rheumatoid arthritis, lupus and celiac disease and many autoimmune diseases.
The interleukin-21 protein has been associated with the development of type 1 diabetes in mice. Scientists from the Garvan Institute in Sydney, Australia discovered that mice carrying the mutation spontaneously developed type 1 diabetes. When the mice DNA were sequenced they found a mutation, only two base pairs of DNA long, on the promoter region of IL-21 gene.
Dr Cecile King, PhD student Helen McGuire and their colleagues then inserted the mutated DNA segment into a healthy IL-21 gene and observed that more IL-21 molecules were produced. When the gene segment was removed, production of the IL-21 slowed down.
“Our next step will be to analyze the IL-21 promoter region in humans with Type 1 diabetes to see if there’s an analogous defect,” said King. “If there is, then it becomes a predictive marker.”
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10.22.09
Posted in Uncategorized at 3:42 am by Luis
When I asked Genetics and Health readers to send a greetings to people they know who have survived or going through breast cancer, I knew I would hear from quite a few of you. And I was so touched by your prayers, greetings and short stories of triumph in behalf of your loved ones. Thank you to everyone who responded. Your family and friends are blessed to have people who care for them like you do.
And thank you for participating in the Melange Perfume give-away as part of the “Think Pink Campaign” and Breast Cancer Awareness Month.
Here are the three winners, randomly chosen from 63 responses:
- Christine, who salutes her mom “she fought and won”
- Bridget Combs whose friend is a former Dallas Cowboy cheerleader, who had BC several years ago at the same time that her daughter was going through multiple surgeries. “she kicked it’s butt and they are both doing great and just as beautiful as ever!”
- Aubrey B. whose grandmother just had a mastectomy. “I am grateful she is healthy.”
Congratulations, ladies! I sent you emails regarding instructions for claiming your prize. I hope to hear from you within a week so I won’t have to pick an alternate winner.
Image provided by Robin Tolkan-Doyle of Charmed PR
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10.21.09
Posted in dna at 3:57 am by Luis
This is such a cool application of genetics! By sequencing all the genes of a patient, scientists diagnosed a congenital disease that could not be identified using clinical observations. Because of the “molecular diagnostics technique”, doctors were able to provide a treatment tailored for the disease.
The patient, an infant, was persistently dehydrated and failing to gain weight, and researchers uncovered a gene mutation that was responsible to the infant’s condition called congenital chloride diarrhea. Instead of sequencing all the thousand base pairs in a genome, researchers focused only on DNA that encodes proteins, about 1% of the total genome. DNA mutations in this region can result in a nonfunctional protein, and would have far-ranging effects on health. According to HHMI.org, about 85% of mutations have a major clinical effects so it made sense for the scientists to begin searching for the disease-causing mutation in this region.
Researchers from Howard Hughes Medical Institute (HHMI) used this knowledge and their efforts were rewarded! The study appears this week in the Proceedings of the National Academy of Sciences.
Image: Newscom
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10.18.09
Posted in Uncategorized at 2:22 pm by Luis
Here’s one case where they failed miserably. Sometimes people laugh when you ask for medical advice online or whatever but the scary fact is that we have to be responsible for our own health because we can’t necessarily trust doctors to do what’s best for us.
Sure when we get sick they’ll talk to us for 30 seconds and then prescribe some medicine but where are the doctors who will plan your healthcare with you? You might just be on your own, just like the woman in the article linked above suggests women at risk for breast cancer need to insist on a mammogram.
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