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.

Post from: Blisstree

Early Retirement at Genetics and Health

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.”

Post from: Blisstree

A Tiny Mutation That Leads to Diabetes

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:

1. Christine, who salutes her mom “she fought and won”
2. 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!”
3. 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

Post from: Blisstree

Contest Winners – Melange Perfume Give-away

  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

Post from: Blisstree

Disease Diagnosed By Gene Sequence

Now, however, a review of the existing studies on the topic found a harmful association between mobile phone use and the risk of tumors.

Appearing in the Journal of Clinical Oncology, the review analyzed results from 23 case-control studies involving more than 37,000 participants. When taken as a whole, the study found no link whatsoever. However, when the authors only analyzed studies with rigorous methodologies and higher standards, a link was found between long-term cell phone use (10 years or longer) and brain tumors.

Joel Moskowitz, main author of the study, also cautioned against having children use cell phones, because they have a longer risk of exposure throughout their life. An expert interviewed by HealthDay further recommended that children use a hands-free device or speaker-phone.

"The question remains unsettled — and unsettled always carries with it likelihood that we might find an association."

Image: sxc

Post from: Blisstree

Link Between Cell Phone and Cancer Lingers

Giving infants Tylenol (generic – paracetamol) to prevent fever after a vaccination may reduce the vaccine’s effectiveness, a new research has found.

Parents usually give Tylenol before or immediately after a routine shot so the child does not get a fever. However, this may not be a good idea since fever is usually the body’s natural immune response to the vaccine. In a Czech study published in Lancet (online October 16), 459 infants were followed after routine vaccination against polio, pneumonia, meningitis, whopping cough, tetanus and other childhood diseases. Half of the babies were given paracetamol within the first day after vaccination. These children did not develop fever, but their levels of antibody were lowered than the group who were not given any pain killers. The antibody levels remained low even after booster shots were given twelve months later.

An editorial wrote that the study makes "a compelling case against" routine use of fever-lowering medicines during immunization. The study did not look at whether immunity was lowered when paracetamol was given after fever developed, so there is no way to tell if the vaccine was as effective in this case.

This new finding is so relevant in light of the seasonal flu and the H1N1 vaccinations. So what’s a parent to do in case fever does develop?

(I found the article that mentioned this study at Associated Press/Yahoo! and I assumed the writer was given advance notice before the article is published tomorrow. Once I get a copy of the paper and the editorial, I will update this post. Maybe we can find some guidelines about what to do in case fever does develop. STAY TUNED.)

Image: Zuma Press

Post from: Blisstree

Tylenol May Reduce Vaccines’ Effects

The HUGO is a group of scientists involved in genetic and genomic research whose aims are to assist coordination of research and foster collaboration of scientists.

HUGO Matters will be a central hub for HUGO’s HUGO’s social networking efforts. Readers can discuss relevant topics in genomics including research, ethics, social issues and even education, according to HUGO president Prof. Edison T Liu.

As part of the blog launch, HUGO is offering a free meeting registration at the HUGO Genomics and Ethics, Law and Society Symposium in Switzerland on November 1- 3. Check out this page for details.

And if you are attending the 59th Annual American Society of Human Genetics Meeting in Hawaii from October 20-24, HUGO will offer complimentary HUGO memberships to readers of HUGO MATTERS and attendees of the ASHG. Just chat with a HUGO member at booth 333. Cool huh? I wouldn’t mind a free membership myself!

Oh, Dr. Hsien Lei is the social media consultant of HUGO and the editor of HUGO Matters. Way to go, Hsien!

Image: Newscom

Post from: Blisstree

HUGO – Free Pass to Swiss Symposium

The FDA announced that Berinert has been approved for adults and adolescents with HAE. Berinert is effective at treating the symptoms of abdominal attacks and facial swelling in patients with HAE. Berinert is a protein product derived from human plasma that regulates clotting and inflammatory reactions.

The support group US Hereditary Angioedema Association has excellent information for patients and families, and this page at About.com has a great overview of symptoms.

Post from: Blisstree

Drug Approved for Rare Gene Mutation

I’m not sure if you have access to The Scientist, so summed up, here are the Ten iPhone Apps that will benefit scientists like us:

oh, and if you’re not a scientist (or anyone from above) I’d still check them out as they are supercool!

1. Molecules – for viewing protein structures.
2. Solutions – nifty calculator for buffers and stock solutions.
3. iCut DNA – The Restriction Enzyme Database at your fingertip, for all the restriction sites and recognition sequences you just can’t remember
4. PubSearch Plus – search PubMed from your iPhone or iPod
5. Papers – the “iTunes for literature” so sync your collected journal papers on your mobile
6. The Chemical Touch – the periodic table and amino acid table, in detail
7. Promega – yup from the same company that gives protocols and applications
8. LabTimer – who doesn’t need one? Make that four timers!
9. Evernote – “remember everything”. So take notes!
10. RSS Reader – Newsstand and Byline are recommended.

Check out the detailed info on each website or at The Scientist, and thanks to Balachandar Radhakrishna for thinking this all up!

Image: Newscom

Post from: Blisstree

Best iPhone Apps for Scientists

Preimplantation genetic diagnosis (PGD) is performed after in-vitro fertilization where an embryo is tested for mutations that can lead to genetic defects, before being implanted into the uterus. Obviously, PGD reduces the need for prenatal genetic testing in the middle of a pregnancy, and avoid having to choose between terminating or continuing on with the pregnancy.

The study showed that among 210 Dutch couples with genetic disorders, 60% would prefer diagnostic testing and, of these 74% preferred PGD over prenatal testing. Couples who are high risk for specific disorders and where there are definitive genetic tests available, like breast cancer, would benefit from this procedure. There was a report earlier this year of the first “designer baby” born free a risk of breast cancer (she does not have the BRCA1 in her genes).

But I’m not sure that PGD would eliminate passing on all possible genetic mutations to the offspring, especially in complex diseases like heart diseases where there are just too many factors (genetic and environment) that can affect one’s inheritance of a disease.

H/T – LA Times Blog 

Image: juggle33 – Fotolia.com’>juggle33 – Fotolia.com’>juggle33 – Fotolia.com’>© juggle33 – Fotolia.com

Post from: Blisstree

Couples Want Preimplantation Genetic Test