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Drug Approved for Rare Gene Mutation

Hereditary angioedema (HAE) is a potentially fatal genetic disorder caused by a deficient or abnormal blood protein called C1 inhibitor. It causes swelling of the extremities, face, trunk, abdomen or airways. Abdominal attacks can result in severe pain, nausea, vomiting, cramps and diarrhea. The attacks can be spontaneous but may also be triggered by stress, surgery or infection. Death may result when the airways close because of the swelling. Only 1 in 50,00 to 150,000 people worldwide/ 1 in 10,000 to 50,000 in the US is affected by this rare dominant mutation, but the mortality is quite high (30%) so it’s really good that the U.S. Food and Drug Administration has approved a treatment Hereditary angioedema.

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: Genetics & Health

Best iPhone Apps for Scientists

The Scientist is my source of interesting leads and news in the science world, but yesterday, it has posted what I think is the coolest article ever - iPhone apps every biologist (or scientist, teacher, science geek, aficionado) needs.

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: Genetics & Health

Couples Want Preimplantation Genetic Test

Couples at high risk for genetic disorders would prefer to have pre-implantation genetic diagnosis (PGD) rather than risk terminating a pregnancy later, a study from Fertility and Sterility Journal showed.

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: Genetics & Health

Improving Memory with Nasal Spray?

This may sound like a sales pitch, but it’s not. If you’re having problems with your memory, or you want to improve it, then you might want to closely follow the research from this German team  of scientists. Published in the journal for experimental biology (FASEB Journal), German scientists discovered that administering a nasal spay containing interleukin-6 improved the memory of it subjects!

According to the paper, Interleukin-6 exerts “neuromodulating influences on the brain, with promoting influences on sleep”. The researchers hypothesized that IL-6 could help consolidate our memories better during sleep, so they administered a nasal spray of IL-6 to test subjects after they read several short stories before bed. The control and test subjects slept and, the next morning, were asked to recall as much of what they had read the night before. And what do you know? The test subjects remembered more!

I’m not sure exactly how IL-6 affects our memory; I only know it has functions on the immune system, but the study is pretty interesting, isn’t it? The Scientist Community wants to know if you would care to try a memory-enhancing nasal spray were it to make its way onto the market? Would you?

Image: sxc

Post from: Genetics & Health

The Gene that Stops Breast Cancer Spread

Over 90% of deaths from breast cancer are caused by metastasis, when the cancer has returned and spread to other parts of the body, including the chest wall, lymph nodes, bones, lungs, liver or brain. But Breastcancer.org says that metastatic breast cancer is more treatable compared to a cancer that starts in the bones or liver so that’s good news.

Well, researchers from The Wistar Institute has uncovered another good news – they identified the gene that can suppress the spread of tumor cells in the body!

The gene, KLF17, is called a “metastasis-suppressor gene” which prevents the spread of cancer cells from the breast to the lungs (as in the study) when it is turned on, and promotes metastasis when it is knocked down, damaged or absent. The protein from KLF17 attaches itself to the promoter region of the gene Id1 (a key metastasis regulator in breast cancer) to prevent its transcription.

Previous to this study, the function of KLF17 has been unknown so the scientists are still continuing to study KLF17. One possible cancer therapy would be to activate the gene in cancer cells, hence preventing its spread.

The report appeared online this week in Nature Cell Biology.

via Science Daily

Post from: Genetics & Health