Mutations in the CFTR gene cause Cystic Fibrosis

So one of the questions on our Neurobiology test due today was to see if there were any heritable diseases in humans that are caused by defects in ion channel genes. I discovered that mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been linked to Cystic Fibrosis (CF).

CF is a genetic disease that affects the lungs and digestive system of its victims. The defective CFTR gene produces a thick, sticky mucus that provides an environment for life-threatening pathogens to establish an infection, and can clog the lungs. This unusually thick mucus also interferes with the pancreas, and impairs the enzymes that help to break down food and allow the body to absorb it. The symptoms of CF include frequent lung infections; persistent coughing, oftentimes accompanied by phlegm; wheezing or shortness of breath; poor growth or weight gain, despite a healthy diet and appetite; salty tasting skin; and difficulty in bowel movements or greasy, bulky stools. The incidence is about one thousand new cases a year.

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The October Molly should go to…

With so many delightful and extensive conversation examples lately, this must be the perfect opportunity to mention that it is time to select the new Molly winner for October! Leave a comment here naming names of the people you like to read in the comments, and I’ll tally them up at the end of the weekend.

Since there is a wee bit of acrimony going on right now, I’ll remind everyone that this is to be a positive process — no howling against any nominee. If you think someone mentioned is just awful, please instead of trying to cast negative votes (I don’t count them), get behind someone you do like.

Invitingly halloweeny

Now this is the kind of thing I’d like to have on my lawn…

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…except, unfortunately, that I have to miss Halloween this year. Halloween is a Ray Bradbury-esque holiday best celebrated in the midwest, and I’m going to be spending that day in the sunny, cheery, less-than-autumnal climes of Southern California, dispelling ghosties, I hope.

No purposes but those we create for ourselves

Those sneaky rascals at the Templeton Foundation have asked one of those ridiculous questions that gets some otherwise rational people stumbling over themselves to give an inoffensive answer: does the universe have a purpose? Of course, the irrational people have no trouble piping up with a happy “Yes!”, which should clue everyone in, as Larry notes, that it’s a gimmick question designed to provoke a range of waffly answers … and waffles, especially the tepid, limp kind, are the stock-in-trade of the Templeton House of Waffles.

I’d say “no, there is no evidence of universal purpose and no reason to assume one,” and be done with it. Except, perhaps, to ask those who say “yes” to specify exactly what that purpose is, and how they know it.

Near as I can tell, the primary purposes of the universe as discerned from the casual expressions of religion’s proponents are 1) to bias victory in local football games, and 2) to regulate the appropriate orifices into which certain people are allowed to place their penises. How the creation of Betelgeuse, the concentration of planetary material in our solar system in one body which we can’t reach and which is uninhabitable to us, and the ubiquity and success of bacteria all play into these purposes is unknown to me … it must be one of God’s mysteries.

Return Ben Stein’s Money

I’m a bit disappointed with Al Franken. Ben Stein has donated to the Franken campaign, and he has accepted the money — come on, Al, let’s see some principles. Stein is a dishonest fraud who is peddling Intelligent Design creationism in his upcoming movie, Expelled; he’s a former Nixon speechwriter, and he defends Nixon. I know they might be friends in their personal life, but this is politics — Franken should stand up for his liberal ideas and courteously refuse to take money from a stupid right-winger.

Besides supporting pseudoscience in the schools, here’s another reason to reject Stein. There’s a letter that’s been going around for some time, purportedly from Ben Stein. According to Snopes, only part of it is, so I’ll just tackle the part that we can assign to Stein’s feeble brain.

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It’s always much more complicated than you think

I mentioned before Cosma Shalizi’s excellent discussion of heritability; add to that now his summary of g. We’ve got a few pompous no-nothings lurking in the comments who are fond of declaiming that they know that they have proof that the brain works in such-and-such a way, and that we can blithely assert an average stupidity exists in broad swathes of humanity (said broad swathes typically sweep across very diverse groups, united only by the obvious ephemera of skin color), but they need to read and comprehend those articles in order to learn that their certainty of a heritable simplicity is a phantasm.

Reality says that race is a category error, and that IQ foolishly tries to pin complexity into a cramped and tiny corner, and that human minds are both diverse and similar … and the great gross simplifications of racists, scientific and otherwise, are lies to comfort fearful bigots.

Cosma has another post that summarizes the exasperation we should all feel.

The Richard Dawkins Foundation supports DonorsChoose

I am pleased to announce that the Richard Dawkins Foundation has contributed over $2000 to the freethinkers challenge to support science education in American public schools. That brings us close to meeting our goal of $20,000, so we just need a few more of you to sign on.

If you take a look at the leaderboard, you’ll notice that one of the columns lists the dollars donated, but the next column lists the number of donors. We’re again leading the pack, with 152, but I’d really like to be able to say that 200 pharyngula readers were willing to give a few bucks to teachers. 300 would be even better. Donating even a token ten dollars would add up and allow us to say that we godless few could stand up together in our numbers and make a difference.

We’ve had several big donors whose efforts are deeply appreciated. Now lets have everyone else chip in and make those donor numbers spin!

Europeans, Asians, Africans, Canadians, South Americans, Australians, Central Americans, and you scattered few residents of Antarctica: yes, you can donate! We got instructions from a DonorsChoose representative:

non-citizens living abroad can surely donate. When entering their addresses they simply need to enter their city, country, and post code in the “CITY” field, then select “New York” as their “STATE” and enter five zeroes for their “ZIP CODE”.

Note also I mistakenly said you could donate just a dollar; I was wrong, the minimum donation is $10. I know, there go the poor grad students to whom that is a week’s worth of ramen, but the rest of you can cough up a little bit, right? There are still proposals looking for funding!

CSHL acts against Watson

I am distressed at this news: the Cold Spring Harbor Laboratory has suspended Chancellor Jim Watson over his comments about race.

I disagree with Watson passionately, and he is completely wrong in his opinions about Africa and women and who knows what else…but he has the right to say it, just as we have the right to disagree vehemently and volubly with him. This does the CSHL no good: it’s a declaration that their director must be an inoffensive, mealy-mouthed mumbler who never challenges (even stupidly).

Maybe that’s what they want — someone diplomatic, who’ll woo donors and visitors with soft words — and I can understand that desire. It’s a sign, though, that CSHL will not be administered by anyone willing to assert controversy, and that’s too bad.

I know, his personal opinions were repellent. But what concerns me is that future leaders of the institution will also not be able to be forceful and loud and aggressive, as Watson has always been, in favor of causes I care about. You have to be able to tolerate the tenure of assholes in order to have the possibility of heroes.

Brain food and eye candy for evolutionists

So that’s what Carl Buell has been up to…Donald Prothero and Carl have been working on a new book, Evolution: What the Fossils Say and Why It Matters(amzn/b&n/abe/pwll), containing descriptions of important transitional fossils, and as you can tell from the title, directly countering some of the silly claims of the creationists. This is going to be one of those books everyone must have.

To whet your appetite, Carl sent along one of the many color plates that will be in the book—this is Sinodelphys, a 125 million year old marsupial.

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You’re already drooling, aren’t you? You want this book. You must have this book. It’s less than $30 at Amazon; it’s not available just yet, but any moment now…so pre-order it already!