The secrets of RASopathies
Kayt is a member of the American Society of Journalists and Authors (ASJA), the Author's Guild and the National Association of Science Writers (NASW). She has recently returned to the United States after living abroad for six years and has just published her first book, DIRTY MINDS: HOW OUR BRAINS INFLUENCE LOVE, SEX AND RELATIONSHIPS, an exploration of the neurobiology of love (Free Press, 2012).
Kayt Sukel's writing credits include personal essays in the Washington Post, American Baby, the Bark, USAToday, Literary Mama and the Christian Science Monitor as well as articles on a variety of subjects for the Atlantic Monthly, Parenting, Cerebrum, BrainWork and American Baby magazines. She blogs regularly about traveling on the Lowell Thomas Travel Journalism Award winning travel blog, Travel Savvy Mom; and science, love and life at the Houston Chronicle's Hearts and Minds blog.
You can often find her oversharing on Twitter as @kaytsukel.
What secrets might one single biological pathway be harboring?
The RAS family of proteins have a unique role. They act as a sort of relay, an on/off switch, if you will, in the cell. As RAS is activated by incoming signals, it turns on other proteins and genes involved in cell development and cell differentiation. Given this rather grand position in the cell, you can imagine that problems with RAS can lead to a wide variety of issues. To date, dysregulation in the RAS pathway have been linked to debilitating disorders like autism, cancer, Noonan syndrome, Costello syndrome and Neurofibromatosis.
"RASopathies" are a family of nine genetically related development syndromes and disorders. They have some overlapping symptoms as well as mutations of genes within the RAS signaling pathway. But have you heard of RASopathies? Many haven't--despite the fact that they are the largest group of related neurodevelopmental syndromes in the world. Some clinicians have suggested that RASopathies may be even more common than Down syndrome.
One little protein. One single pathway. A lot of interesting tales to tell.
Researchers across the globe are trying to understand RAS (and its associated gene)--and how and why it can hold such power over development. They are looking for successful treatments to help children who have disorders like Noonan and Costello syndromes. And they hope that the secrets in this one signaling pathway may offer insights into the development of other diseases like cancer and heart disease. But without more outreach (and, of course, funding), they aren't going to get very far.
Given the importance of RAS signaling, why aren't we hearing more about it? Maybe we should be.
Certainly, the parents of children with RASopathies believe the larger community should be. They are working hard on outreach, maintaining large online support groups for fellow parents as well as research and information websites. But they can't do it alone.
One gene. One protein. One pathway. Many, many secrets. It's time to get a better handle on RASopathies.
Photo credit: wavebreakmedia/Shutterstock.com
Giving our solar system a "slap in the face"
- A stream of galactic debris is hurtling at us, pulling dark matter along with it
- It's traveling so quickly it's been described as a hurricane of dark matter
- Scientists are excited to set their particle detectors at the onslffaught
Two massive clouds of dust in orbit around the Earth have been discussed for years and finally proven to exist.
- Hungarian astronomers have proven the existence of two "pseudo-satellites" in orbit around the earth.
- These dust clouds were first discovered in the sixties, but are so difficult to spot that scientists have debated their existence since then.
- The findings may be used to decide where to put satellites in the future and will have to be considered when interplanetary space missions are undertaken.
Once again, our circadian rhythm points the way.
- Seven individuals were locked inside a windowless, internetless room for 37 days.
- While at rest, they burned 130 more calories at 5 p.m. than at 5 a.m.
- Morning time again shown not to be the best time to eat.
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