Tag Archives: disability

NIH scientists identify a genetic disorder that may affect 1 in 20

[Mast cells from a sinus stained in blue. Image via Wikimedia Commons & CC 2.0] 

On July 10, 2010, a DC restauranteur came down with what seemed to be food poisoning. He had no energy and no appetite. Rashes flared up. He could barely get out of bed. First hours and then days dragged by without any relief from the symptoms.

The restauranteur’s family sought out doctor after doctor, until finally they were referred to a lab at the NIH (National Institutes of Health) that studies how allergies pass down through families. 

His symptoms fit a diagnosis of Mast Cell Activation Syndrome, (MCAS)  a disorder where a type of immune cells called mast cells release chemicals that send other immune cells into a destructive frenzy. Ideally, mast cells detect infection and spur other immune cells into action. However, some people’s mast cells have a hair trigger. When mast cells release their chemical contents too often, immune cells end up attacking healthy tissue, causing allergies, stomach issues, and heart palpitations. 

[Above: An NIH-produced video about MCAS and Milner’s research into mast cell activation genetics.] 

Unfortunately, most treatments for MCAS aim at the symptoms, not the root cause.  But the NIH team delved deeper into the genetics and found a pattern:  many MCAS-related symptoms run in families.

And oddly enough, hyperflexible joints, dysautonomia, and baby teeth that fail to fall out also ran in many of those families. Many of these symptoms skipped generations, only showing up occasionally in individuals. But genetic sequencing revealed the correlation wasn’t coincidence.

In October, NIH scientist Joshua Milner and his team described the  genetic disorder in a paper in Nature Genetics. According to the team’s paper, 4-6% of the U.S. population has the genes that predispose them to this syndrome–which has been tentatively named alpha-tryptasemia or “alpha-T”.

The symptoms can be cryptic and unrelenting: Dizziness, chronic pain, irritable bowels, fainting. But for many patients with these conditions, there’s no explanation and no treatment. “These [symptoms] are really all triggers to get an eyeroll from a doctor,” said Milner. But for a sizeable portion of population, these seemingly unrelated problems might be part of the previously undiscovered genetic disorder.

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12 Lessons from Science Writers 2016 in San Antonio

[Inside the Alamo. Photo by Jerald Jackson via Flickr & CC 2.0, My own Alamo photos did not come out this pretty.] 

This past weekend, I spent three and a half days at the National Association of Science Writers meeting in San Antonio, Texas.

If you’ve never been to a Science Writers conference, here’s what you need to know:  It’s an eclectic event. On Friday and Saturday, science writers meet to discuss their craft and the state of their field. On Sunday and Monday, scientists present to the journalists, bloggers, and university writers, to give them all a chance to learn a bit about trending topics in science.

Here are a few of the key takehome messages I picked up at Science Writers 2016. 

1. The PIO vs. Journalist division has been wildly over-dramaticized.

 

Writers who work for universities–aka Public Information Officers or PIOs–are a huge chunk of NASW’s member population. They attend the same conference panels, follow the same Twitter accounts, and stand in the same lines for coffee as the journalists and bloggers amongst NASW’s ranks.

However, in some respects, PIOs’ work is very different from journalists: Specifcially, a PIO’s job is to make their university look freakin’ awesome; a journalist’s job is to provide needed information–and often critiques of institutions–to the public.  Both camps of science writers want to provide their readers with accurate and interesting information, but the reasons behind that objective strongly contrast.

At last year’s NASW meeting, a proposed amendment that would allow PIOs to serve as officers on NASW’s board  brought the tensions between the two professional groups to the fore. Some PIOs felt undervalued; many journalists and some PIOs  argued that allowing PIOs to serve as officers would create Conflicts-of-Interest for NASW. (Clarification: PIOs are already allowed to serve as board members, just not officers.) The debate has been extensively covered by Undark magazine. 

Based on some heated (and impolitic) listserv discussions, many expected the tensions to erupt once again at the meeting. However, the San Antonio conference was suprisingly calm,  with the vast majority of amendment commentators saying that “we should all (continue) to be friends”.

Many senior writers also acknowledged the existence of freelancers who do a combination of journalistic and PIO work, as well as bloggers (like yours truly) that don’t fit either category. The results of the vote on the amendment won’t be announced for several days, but overall, the debate seems to have simmered down.

2. If you want to be a science writer, don’t be afraid to pitch.

The most important tweet of the conference:

Back in high school, I once saw an utterly mediocre Will Smith movie, where he plays a guy who advises other men on how to get women’s attention.  One scene stuck in my head where Will Smith turns to camera and says, “Trust me. No woman wakes up and thinks, ‘Gee, I hope I don’t get swept off my feet today.'”

The casual sexism of off-feet-sweeping, aside, the principle holds true. Most people aren’t actively avoiding making new friends. And most editors are not avoiding awesome new writers. In fact, most of them are actually want to discover new talent.

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