Immediate and long-term benefits of basic research into rare diseases

I presume you’ve all read about this marvelous work on correcting a rare and terrible genetic disease, epidermolysis bullosa. It’s a mutation that causes the skin to blister up and tear, basically; it’s a horrible disease that makes life miserable and a constant source of pain and infection.

Patients with epidermolysis bullosa live in excruciating pain, their skin so fragile to the touch that those born with the disorder have been nicknamed “butterfly children.” The disorder produces chronic and untreatable wounds that get infected easily and can eventually become cancerous. About 500,000 people worldwide have epidermolysis bullosa.

Now it has been successfully treated by combining a technique for generating skin grafts from stem cells that was first developed for burn patients, with gene therapy, going in and repairing the defective gene, and then growing the new graft from the patient’s own gene-corrected cells. It seems to be a total success.

In August, De Luca and Pelligrini got the green light to try their technique. In September, they collected a square inch of skin from Hassan’s groin—one of the few parts of his body with intact skin. They isolated stem cells, genetically modified them, and created their gene-corrected skin grafts. In October and November, they transplanted these onto Hassan, replacing around 80 percent of his old skin.

It worked. In February 2016, Hassan was discharged from the hospital. In March, he was back in school. He needs no ointments. His skin is strong. It doesn’t even itch. “He hasn’t developed a single blister,” says de Luca, who shared the details of Hassan’s story with me. “He’s gaining weight. He’s playing sports. He’s got a normal social life.”

Solely from a humanitarian aspect, this is a triumph. But there’s another side to it as well, that addresses the kind of complaint we might get from bean-counters. This is a relatively rare disease. It would be far cheaper to just let its victims simply suffer and die out. The articles don’t talk about it, but I’m sure the cost of culturing and growing and applying gene therapy to new skin for this one victim was extravagant to an extreme. But that isn’t the point — in addition to being a clinical treatment for one person, this represents basic scientific research on a core problem, how to generate reliable quantities of genetically modified tissue.

It is the same rational we use for all basic research into rare diseases — not only is it the right and humane thing to do, but figuring out how to deal with it adds a new tool to our toolbox and gives us deeper understanding of fundamental cellular processes.

What happened to Scienceblogs?

Greg Laden has some answers — there are a few things he mentions that I did not know about.

Also, he’s got a list of where some of the old scienceblogs sites have moved to. I’ve pulled those urls out and put them on the blogroll on the sidebar to the left, under the category “Scienceblogs Diaspora”. Don’t forget them, the network may have vanished into the æther, but the authors are still tap-tap-tapping away!

Maybe this is what’ll kill the alt right

It seems that appealing to a sense of morality doesn’t work, but maybe capitalism will stop the Nazis. Richard Spencer and his National Policy Institute rented a venue at the University of Florida for their rally.

The check bounced.

When you’re selling to Nazis, you definitely need to get the cash up front. Also, I’d recommend a great big security deposit.

Some people deserve to be pariahs

Ken Ham is one of them. He has been invited to speak at a homeschooling conference in Calgary, because homeschooling is infested with the rot of religious bullshit (yes, I know, some homeschoolers are dedicated to teaching well, but if you’re in it because you don’t like that there sekyoolar sciencey stuff, you aren’t qualified). He knows nothing about education or science, but he pretends to in order to sell more lies, and then he gets the unwarranted respect of mobs of ignoramuses.

It should also discredit the homeschool organization, which is demonstrating no sense of discriminating judgment or respect for science standards.

Calgarian Paul Ens says he walked away from his Christian faith after reading Ham’s creationist literature and started a YouTube channel dedicated to debunking Ham’s teachings.

“As a citizen of Alberta and a father, I’m very concerned that Ken Ham is being brought in on multiple levels — primarily that he is a science denier. He denies evolution, he denies the age of the Earth,” Ens said.

He says the fact Alberta’s Home Education Association has booked Ham to speak raises questions.

“It signals to me that this homeschool group is not serious about following provincial curriculum or proper science education for their children,” he said.

I think this person has the right idea.

Yes, atheists of Calgary, get out there and protest. I think, though, that this is also the perfect opportunity to cooperate with Christians and other religious groups to protest — Ken Ham is doing a phenomenal job of tainting the entirety of Christianity, so I would hope there are a lot of mainstream religious groups who ought to be eager to distance themselves from him. This is a situation where a united front to oppose bullshit would be advantageous.

Savagery tamed

I stopped getting haircuts last year — almost exactly a year ago today. I just despaired at the horror of that last presidential election, and decided I didn’t care anymore, and I’d just let it grow. Unfortunately, long hair is a pain to take care of, and my wife was also looking askance at me, and so I finally broke down and got it chopped off yesterday. It helped that the salon I went to had a poster out front acknowledging solidarity with the LGBTQ community, so I was able to cross that threshold and get it done.

Here I am, before and after.

I don’t know…now I’m thinking I’m preferring the wild-haired old testament prophet look. Maybe it’s just that the lighting was better.

Our new theme is a clear one: RAGE

We had a pretty good election night yesterday, but I don’t want anyone to forget what should be driving you right now, and that is a righteous anger. Read Katha Pollitt about her reaction to the past year.

But the main difference is that I hate people now. Well, not all people, of course. Just people who voted for Trump. People who do their own “research” on the Internet and discover there that President Obama is a Muslim and Michelle Obama is a man. People who use the n-word and can’t even spell it right, because—have you noticed?—Trump supporters can’t spell. Well-off people who only care about lowering their taxes. People who said they couldn’t vote for Hillary because of her emails. Excuse me, sir or madam, can you explain to me what an email server even is? People who didn’t believe Trump would bring back coal or build the wall or Make America Great Again, but just wanted to blow things up. Congratulations! We are all living in the minefield you have made.

I know what you’re thinking: you are the problem, Katha, alienating Trump voters with your snobbish liberal elitism and addiction to “identity politics.” Yes, I wanted them to have health care and child care and good schools and affordable college and real sex education and access to abortion and a much higher minimum wage. And yes, I wanted the wealthy to pay more taxes to provide for it all. Obviously, this offended the pride of the stalwart, mostly white citizens of Trumplandia, possibly because a good proportion of white people would rather not have something if black people get to have it, too. As for pussy-grabbing, sheesh! Men will be men, get over yourselves, ladies. None of that is “identity politics,” though. It is just America.

You know exactly how the defenders of the status quo will respond: sit down, be nice and polite, you might annoy the regressives/alt-right, and their anger will be more defensible than yours. We’re already composing our excuses for them that will consist of blaming you.

Lindy West is also rather angry.

Just this week, Juli Briskman, a government contractor, lost her job after a photo of her flipping off the presidential motorcade went viral. Solange, Britney Spears, Sinead O’Connor, the Dixie Chicks, Rosie O’Donnell — I struggle to think of women who lost their tempers in public and didn’t face ridicule, temporary ruin, or both. And we don’t even have to be angry to be called angry. Accusations of being an “angry black woman” chased Michelle Obama throughout her tenure at the White House, despite eight years of unflappable poise (black women suffer disproportionately under this paradigm). The decades-long smearing of Hillary Clinton as an unhinged shrew culminated one year ago today when, despite maintaining a preternatural calm throughout the most brutal campaign in living memory, she lost the election to masculinity’s apoplectic id.

Like every other feminist with a public platform, I am perpetually cast as a disapproving scold. But what’s the alternative? To approve? I do not approve.

Not only are women expected to weather sexual violence, intimate partner violence, workplace discrimination, institutional subordination, the expectation of free domestic labor, the blame for our own victimization, and all the subtler, invisible cuts that undermine us daily, we are not even allowed to be angry about it.

Ah, yes. Have you ever noticed how Social Justice Warriors in general get chastised for being “disapproving scolds”? How dare we publicly criticize Nazis and misogynists, as if we think we’re better than them! Defending people who want to murder and deport people, or want the right to batter their wives, is better virtue signaling, because the anti-SJWs are so noble that they defend the free speech rights of woman-hating skinheads.

That rage will be used to excuse assault. Take the case of Aisha Walker, a woman who saw a drunk man accosting another young woman, and she chose to stand between them, a brave act. But then another man, a bystander, came to the aid…of the drunk.

A third passenger got involved, Walker wrote, telling her and the other man that they were both being stupid. When she asked him why it was stupid to stand up for a woman being harassed, he became angry.

The bystander began swearing and shouting that he would be happy to “step off the bus” to deal with her.

Walker said when she asked what that would prove, the man punched her “directly in the mouth at full force.”

He broke many of her teeth, requiring a lot of dental work. But he made his point: anger at oppression is a greater crime to these people than the oppression itself. Moral clarity is an affront to people who want the liberty to be selfish.

Open Thread on yesterday’s election

It just goes to show what you can do with a motivated electorate. There was a high voter turnout, but Democrats turned out in greater numbers than Republicans to repudiate the Trump agenda. That’s promising for the future, but we have to remember that we can’t always vote against a bad thing, we have to be just as motivated to go to the polls for a good thing, and that’s where Democrats tend to fail.

So what local things feel like a personal triumph for you? The city of Morris passed a school bond issue to get our high school repaired and maintained, something that has been neglected for too long. I think responsible maintenance of our infrastructure is a great positive thing Democrats can stand for.

I’d also like to call for better, more equal representation in local and state government. Republicans have gerrymandered and suppressed voters to set up a system where their party is stacked with white men, and our leadership does not look like our communities. Let’s change that!

More aliens!

Sometimes, I think, science fiction authors have a better idea of potential alien complexity than do biologists. Here’s an essay by Tim Pratt on alien worldbuilding that does a good job of addressing a common problem.

I knew my series needed aliens, just like it needed mysterious ancient technological artifacts, space pirates, snarky computers, and cool spaceships. Turning to the task of creating aliens right after I’d put together my (mostly) human crew made me hyperaware of the issue of culture. One thing that bothers me in some science fiction (more often cinematic and televisual than written, but often there, too) is alien monocultures. Unless you’re talking about the Borg or Cybermen or other sorts of hive-minds, it never made sense to me to have an entire species of aliens with a single culture. How many thousands of cultures are there on Earth, after all, and how many subcultures within those cultures? From differences in music, religion, recreation, art, literature, food, philosophy, sexual preferences—cultures and subcultures get so wonderfully and weirdly granular. And yet, so often when our fictional humans encounter aliens, they discover the whole species consists of noble warriors or aloof philosophers or sadistic experimenters or ruthless capitalists. Where are the pacifist Klingons who run sustainable free-range krada ranches? Where are the Wookies who like to shave their entire bodies and refuse to celebrate Life Day because it’s gone too corporate? The Volus philanthropists? The punk rock Vulcans? Sure, sometimes there’s a plot point involving some rogue weirdo outlier, but in any alien species there should plausibly be whole communities, whole cities, whole religions or sects or affinity groups, who march to the beat of a different Kintarrian Death Drum.

Yeah! Diversity is important. I think I’m going to have to grab a copy of his series.