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A Battle Plan for a War on Rare Diseases: Conversation with Matt Might

61 点作者 onuralp超过 6 年前

8 条评论

dang超过 6 年前
This has a touching backstory on HN:<p><a href="https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=8050106" rel="nofollow">https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=8050106</a><p><a href="https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=4038113" rel="nofollow">https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=4038113</a><p>I didn&#x27;t realize that he had switched fields and moved. That info is here:<p><a href="https:&#x2F;&#x2F;www.uab.edu&#x2F;medicine&#x2F;news&#x2F;latest&#x2F;item&#x2F;1411-white-house-strategist-to-lead-uab-s-personalized-medicine-institute" rel="nofollow">https:&#x2F;&#x2F;www.uab.edu&#x2F;medicine&#x2F;news&#x2F;latest&#x2F;item&#x2F;1411-white-hou...</a><p>and <a href="http:&#x2F;&#x2F;www.pl-enthusiast.net&#x2F;2016&#x2F;03&#x2F;24&#x2F;interview-matt-might&#x2F;" rel="nofollow">http:&#x2F;&#x2F;www.pl-enthusiast.net&#x2F;2016&#x2F;03&#x2F;24&#x2F;interview-matt-might...</a>, via <a href="https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=11366150" rel="nofollow">https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=11366150</a>
the_grue超过 6 年前
Matt Might (the subject of this article) gave a jaw-dropping talk a year ago, named &quot;Winning the War on Error - Solving the Halting Problem and Curing Cancer&quot; [1]. At least you can&#x27;t blame him for the lack of ambition! But the best part is he&#x27;s really getting it done. His security research led to developing very successful static analysis tools that exposed security bugs in real code. And he did manage to find a treatment for his own son&#x27;s rare genetic disorder.<p>[1] <a href="https:&#x2F;&#x2F;www.youtube.com&#x2F;watch?v=MdmQUlD7P40" rel="nofollow">https:&#x2F;&#x2F;www.youtube.com&#x2F;watch?v=MdmQUlD7P40</a>
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shubb超过 6 年前
Rare family diseases tend to be genetic diseases with a relatively simple genetic cause that can be found by comparing family members.<p>This article is about treating rare diseases, but there is a simpler way - having identified the genes for the disease, we could screen for them, and then advise people carrying them to reproduce only via selective IVF. That way, the next generation of that family can be free of carriers, eliminating the disease in the long term even if a treatment isn&#x27;t found. (This is not an either or with finding a treatment)<p>The above approach is much cheaper, effective, but raises important moral questions we need to think hard about. At what point does a disease become bad enough that it needs to be excluded like this? Slippery slope, etc.
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baldfat超过 6 年前
&gt; he’s begun to create a road map for other families facing rare diseases — as much as 10 percent of the population, or 30 million Americans.<p>10% of our families are effected by &quot;rare&quot; diseases.<p>September is Pediatric Cancer Awareness Month: 100% of Pediatric Cancer is classified as &quot;rare.&quot; It is used to give so little in research and most money is used to help the families financially. 4% of the US Cancer Grant is allocated to Pediatric Cancer research.<p><pre><code> Lost a sister at 15 to brain cancer and a son at 12 to bone cancer. The worst thing to do is to call it rare. How many thousands didn&#x27;t start school this year? How many thousands of families have lost</code></pre>
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Nasrudith超过 6 年前
These rare diseases are interesting in their utility. Previously one would think ignore them budgetwise - not out of callousness but because of compassion for others affected by more common diseases. However their oddball effects also boost understanding of otherwise obscure effects. Sonic hedgehog was named for the protein shape - and then it turned out defects in the linked gene can lead to horrifying birth defects and well SHH is a less frivolous term for it.
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mattip超过 6 年前
I appreciate the intensity and urgency of this attempt, but surely there is a way to frame the work without resorting to militaristic metaphors. Surely there are other forms of expressing an effort than “the war on ...”?
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jbrambleDC超过 6 年前
I worked with Matt at the US Digital Service. Amazing stand up guy!
teslabox超过 6 年前
Dr. Matt Might is one of the few people that I remember from high school [0]. He&#x27;s the only one from that school whom I&#x27;ve communicated with post-graduation. [edit: one other, actually...]<p>[0] <a href="https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=11366288" rel="nofollow">https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=11366288</a><p>I think it important to put medicine&#x27;s lack of progress in adequately treating many conditions in context, and only consider genetic factors as one consideration in the web of causality. Too often doctors make a diagnosis and treat the diagnosis. Much more work needs to be made in respecting the complexity of even the simplest of diagnoses.<p>Consider the simple ear infection. Sometimes children have regular ear infections, but these usually go away as the person grows up. I started having chronic ear infections in college, well after the usual age that one experiences chronic ear infections. The prescribed antibiotics took care of the problem for a few weeks before the infection returned. After a year of this I figured out how to take care of my ears myself with non-prescription interventions, and after maybe 6 years I figured out how to treat the causes behind my ears&#x27; poor drainage.<p>The GQ story &quot;Sperm Count Zero&quot; was recently discussed here: <a href="https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=17942744" rel="nofollow">https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=17942744</a><p>GQ didn&#x27;t really drill down into the causes behind the male population&#x27;s shrinking sperm counts, because the experts themselves aren&#x27;t at all sure about the causes behind the symptom. While the causes of an individual man&#x27;s low sperm count are unique in every case, it is a combination of factors that causes our society&#x27;s shrinking sperm counts. The causes that I suspect include evolutionary-inappropriate modifications to our diet, mass exposure to endocrine disruptors (xeno-estrogens), etc. The Mayo Clinic&#x27;s page about this condition [1] shows there&#x27;s a few known simple causes for a man&#x27;s low sperm count, but there is no effort to put society&#x27;s condition in context.<p>[1] <a href="https:&#x2F;&#x2F;www.mayoclinic.org&#x2F;diseases-conditions&#x2F;low-sperm-count&#x2F;diagnosis-treatment&#x2F;drc-20374591" rel="nofollow">https:&#x2F;&#x2F;www.mayoclinic.org&#x2F;diseases-conditions&#x2F;low-sperm-cou...</a><p>Women are having similar responses to the causes behind men&#x27;s shrinking sperm counts. Because women are supposed to release one egg a month rather than millions, their condition gets a label (PCOS&#x2F;Endometriosis&#x2F;anovulation&#x2F;etc) and standardized treatments. Women are often subjected to palliative treatments for their diagnosis -- frequently this is some form of birth control. While some women find their condition to be helped with these prescriptions, medicine has failed to &#x27;cure&#x27; their problem. They&#x27;ve just shut down the symptoms enough to make the patient&#x27;s life a little more tolerable.<p>Sometimes women think they have &quot;polycystic ovaries&quot; [PCOS] because their mother had symptoms of polycystic ovaries, and think their own condition &quot;must&quot; be genetic. But habits get passed down too, and &quot;stress&quot; is a major factor in many women&#x27;s conditions. Poverty is not genetic, but it usually gets passed down with all the other habits we learn from our parents.<p>Treating a woman&#x27;s diagnosis of PCOS with birth control is using hormone analogues to suppress the normal functioning of the reproductive system. The use of these drugs for PCOS is a &#x27;palliative&#x27; rather than &#x27;curative&#x27; treatment.<p>There are certainly &#x27;rare diseases&#x27; with genetic causes, but an effort also needs to be made to clear obsolete and harmful treatments from medicine&#x27;s tool chest. Sometimes &quot;war&quot; is appropriate, but war can also be prevented with good diplomacy.
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