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Experimental Gene Therapy Found To Slow Huntington's Disease Progression

Slashdot
3 months 2 weeks ago
Doctors report the first successful treatment for Huntington's disease using a new type of gene therapy given during 12 to 18 hours of delicate brain surgery. The BBC reports: An emotional research team became tearful as they described how data shows the disease was slowed by 75% in patients. It means the decline you would normally expect in one year would take four years after treatment, giving patients decades of "good quality life", Prof Sarah Tabrizi told BBC News. The first symptoms of Huntington's disease tend to appear in your 30s or 40s and is normally fatal within two decades -- opening the possibility that earlier treatment could prevent symptoms from ever emerging. None of the patients who have been treated are being identified, but one was medically retired and has returned to work. Others in the trial are still walking despite being expected to need a wheelchair. Treatment is likely to be very expensive. However, this is a moment of real hope in a disease that hits people in their prime and devastates families. [...] It starts with a safe virus that has been altered to contain a specially designed sequence of DNA. This is infused deep into the brain using real-time MRI scanning to guide a microcatheter to two brain regions - the caudate nucleus and the putamen. This takes 12 to 18 hours of neurosurgery. The virus then acts like a microscopic postman -- delivering the new piece of DNA inside brain cells, where it becomes active. This turns the neurons into a factory for making the therapy to avert their own death. The cells produce a small fragment of genetic material (called microRNA) that is designed to intercept and disable the instructions (called messenger RNA) being sent from the cells' DNA for building mutant huntingtin. This results in lower levels of mutant huntingtin in the brain. [...] The data showed that three years after surgery there was an average 75% slowing of the disease based on a measure which combines cognition, motor function and the ability to manage in daily life. The data also shows the treatment is saving brain cells. Levels of neurofilaments in spinal fluid -- a clear sign of brain cells dying -- should have increased by a third if the disease continued to progress, but was actually lower than at the start of the trial.

Read more of this story at Slashdot.

BeauHD

Coded Smorgasbord: High Strung

The Daily WTF
3 months 2 weeks ago

Most languages these days have some variation of "is string null or empty" as a convenience function. Certainly, C#, the language we're looking at today does. Let's look at a few example of how this can go wrong, from different developers.

We start with an example from Jason, which is useless, but not a true WTF:

/// <summary> /// Does the given string contain any characters? /// </summary> /// <param name="strToCheck">String to check</param> /// <returns> /// true - String contains some characters. /// false - String is null or empty. /// </returns> public static bool StringValid(string strToCheck) { if ((strToCheck == null) || (strToCheck == string.Empty)) return false; return true; }

Obviously, a better solution here would be to simply return the boolean expression instead of using a conditional, but equally obvious, the even better solution would be to use the built-in. But as implementations go, this doesn't completely lose the plot. It's bad, it shouldn't exist, but it's barely a WTF. How can we make this worse?

Well, Derek sends us an example line, which is scattered through the codebase.

if (Port==null || "".Equals(Port)) { /* do stuff */}

Yes, it's frequently done as a one-liner, like this, with the do stuff jammed all together. And yes, the variable is frequently different- it's likely the developer responsible saved this bit of code as a snippet so they could easily drop it in anywhere. And they dropped it in everywhere. Any place a string got touched in the code, this pattern reared its head.

I especially like the "".Equals call, which is certainly valid, but inverted from how most people would think about doing the check. It echos Python's string join function, which is invoked on the join character (and not the string being joined), which makes me wonder if that's where this developer started out?

I'll never know.

Finally, let's poke at one from Malfist. We jump over to Java for this one. Malfist saw a function called checkNull and foolishly assumed that it returned a boolean if a string was null.

public static final String checkNull(String str, String defaultStr) { if (str == null) return defaultStr ; else return str.trim() ; }

No, it's not actually a check. It's a coalesce function. Okay, misleading names aside, what is wrong with it? Well, for my money, the fact that the non-null input string gets trimmed, but the default string does not. With the bonus points that this does nothing to verify that the default string isn't null, which means this could easily still propagate null reference exceptions in unexpected places.

I've said it before, and I'll say it again: strings were a mistake. We should just abolish them. No more text, everybody, we're done.

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Remy Porter