9 ms·
Scientists discover the chemicals behind the unique Parkinson’s smell
- gordaco 8y agoThis is exciting for two reasons. First, we could develop a measurable diagnosis based on this. Second, we can now search for the source of these chemicals and use them to better understand this illness, and that might lead to a cure. I love when people use these small time superpowers for tho good of everyone.
- viraptor 8y agoDoes anyone know how close are we at the moment from being able to say "we're getting X smell, so here are the genes producing X producers"? I know we can (most of the time) say, here are the sites producing a specific protein. But are we able to find sites for second and higher order results yet?
- deleted 8y ago[deleted]
- dkural 8y agoIt's luck of the draw. We understand perhaps 15-20% of the genes/proteins in the human genome fairly well. We have fairly general notions of what the rest are but lack specific understanding. We also discover novel functions for genes/proteins we thought we knew well. One way to discover function is to what's called a "genetic screen": Assuming one develops a robust way of measuring those chemicals; we fix that as the "phenotype" we're looking for. We can then disable each gene (with CRISPR, or RNAi, or chemical mutagenesis..) and see if the chemicals get produced (or stop getting produced); and then sift through those. This strategy is far from being exhausted; and people keep coming up with cool phenotypes to measure. One idea I've been excited for some time is using ML to robustly annotate behaviors from mice by using wide-range microphones and 24/7 video as the phenotype; and use a combinatorial genetic screen to rigorously discover genetic contributors to behavior (aggression, mobility, curiosity, socializing behavior etc.) The ML algorithm can be initially trained by hand-annotated behaviors (annotated by post-docs etc.)
- chrischen 8y agoEDITED: She can also smell Alzheimer's, even before a person is about to develop it. https://www.express.co.uk/life-style/health/1107030/dementia-life-woman-smell-husband-Alzheimer-strange-odour https://www.express.co.uk/life-style/health/1107030/dementia...
- eigenloss 8y agoThis is the same Joy.
- pcl 8y agoEDIT: oops, missed the Alzheimer’s reference. Nonetheless, the title appears wrong, unless her husband had both Parkinson’s and Alzheimer’s. --- I suspect that’s just a mistake in the headline. The article doesn’t say anything about Alzheimer’s. It does mention that she can smell cancer and tuberculosis, however.
- maxerickson 8y agoShe says Alzheimer’s smells like “vanilla, with a dark side” while tuberculosis smells “harsh”.
- maxerickson 8y agoBut her sensitivity to smell means she is unable to enter the cleaning products aisle in supermarkets. To most people, the plastic packaging has no odour; to Joy, it is so intense she starts to retch. Is that even remotely true that people can't smell that aisle? I don't think I have an extraordinary sense of smell and I think of the smell of that aisle as "rank" or something like that.
- tuukkah 8y agoSimilar to yesterday's news: "Dogs demonstrate the existence of an epileptic seizure odour in humans" https://news.ycombinator.com/item?id=19521835 https://news.ycombinator.com/item?id=19521835
- abhinai 8y agoSmell represents an entirely new approach to medical diagnosis and in the next decade god knows how many tests we'd be able to develop using this approach. I am truly excited!
- lazyjones 8y ago> Smell represents an entirely new approach to medical diagnosis It's not new at all. Traditional Chinese medicine has used it for a long time, among others.
- GuyGriffin 8y agoAny examples of TCM / smell patterns?
- gonesilent 8y agohttps://www.youtube.com/watch?v=5ok3EZnpaD4 https://www.youtube.com/watch?v=5ok3EZnpaD4
- christopher8827 8y agoTo get around the paywall; https://outline.com/8M4RL7 https://outline.com/8M4RL7
- mikekchar 8y agoOdd... The page doesn't load for me and I end up at a Facebook error page...
- etaioinshrdlu 8y agoMaybe smell detection will bring us the future Theranos imagined.
- rectang 8y ago> perillic aldehyde, hippuric acid, eicosane and octadecanal It's tantalizing to see the names fixed in print. To make a software dev analogy, it's like finally reproducing a heisenbug and knowing it's very likely you'll find the root cause soon.
- dustindiamond 8y agoWhat is a heisenbug?
- KenanSulayman 8y agoA bug that this one customer keeps reporting and no developer in the team can replicate, until it happens one day and it happens constantly, until you try to debug it, because then the bug will never happen again. ️ https://en.m.wikipedia.org/wiki/Heisenbug https://en.m.wikipedia.org/wiki/Heisenbug
- kierenj 8y agoTo me, it's a bug which disappears when a debugger is attached... by observing it you're modifying the behaviour. I see the other comment here, I'd not heard of that explanation..
- dTal 8y agoIt doesn't have to involve a debugger. I had a sporadic bug once that couldn't be reproduced, which turned out to only appear when one performed an action quickly. When debugging, one tends to perform the steps to reproduce carefully, and hence slowly...
- pdpi 8y agoIt’s a riff on Heisenberg’s uncertainty principle — a bug that changes behaviour when you try to observe it, typically the sort of bug that you can’t reproduce under debug conditions. Often they’re race conditions or other timing-sensitive bugs, and the debugger changes timings enough that the bug doesn’t trigger.
- dcomp 8y agoIt would be interesting to see whether this smell is caused by the same thing that results in Parkinson's or just associated with it.
- guru_meditation 8y agoNovember 15, 2018 publication: Discovery of volatile biomarkers of Parkinsons disease from sebum https://doi.org/10.1101/469726 https://doi.org/10.1101/469726 (free full-text PDF link on site) From the abstract: We have serendipitously identified a hyperosmic individual, a Super Smeller that can detect Parkinson's Disease(PD) by odor alone, and our early pilot studies have indicated that the odor was present in the sebum from the skin of PD subjects.
- lvs 8y agoThanks for the actual paper. No authentic standards were used to validate the assignments. These are being identified by low-resolution single-quad mass alone. The chances that these compounds, if they exist, are correctly identified is very small. For point of comparison, they also found artemisinic acid, an antimalarial drug precursor that is not typically administered in the UK -- and not as the precursor.
- sidcool 8y agoParkinson's, Alzeimers and other neurological disorders will be cured in the future. What bothers me is that people from past and present will continue to suffer until then. We need to support scientists more.
- melling 8y agoWithin the next 150 years, we’ll probably turn most diseases into something treatable as we slowly acquire knowledge. Of course, imagine if we started rapidly acquiring knowledge, I’d be saying within 75 years. Your choice.
- Consultant32452 8y agoI wonder if "science" generally suffers the same plight that is discussed in The Mythical Man Month. I suspect it does.
- galangalalgol 8y agoIf you know what you need to do you can only split the tasks to a certain granularity without losses. But if you don't know what you need to do, then you can have large number of independent teams trying different things with no penalty.
- melling 8y agoSo, you think science one big problem that we’re trying to solve? Personally, I’d say it’s more like millions of smaller problems.
- Consultant32452 8y agoIt's not clear that doubling the research funding from the NIH results in twice as much qualitative output. That's all I mean.
- bookofjoe 8y agoFirst epilepsy (dogs), now Parkinson's. Leads me (retired neurosurgical anesthesiologist) to wonder if ALL pathology has an olfactory component that, with sufficient sensitivity of instrumentation, can be detected. Perhaps we won't require a "Star Trek"-type imaging device: just stand still and let the mass spectrometer do its thing.
- bookofjoe 8y agoSee, for example, Maple syrup urine disease: https://en.wikipedia.org/wiki/Maple_syrup_urine_disease https://en.wikipedia.org/wiki/Maple_syrup_urine_disease
- anisppp 8y agoWow so 2 whole things are able to be identified by volatile chemicals and this leads to all?! And I wonder how people like Holmes are able to survive for >10 years. We can deliver nicotine via patch, so obviously all drugs should be delivered that way. We can measure glucose from a drop of blood so obviously it follows that all blood tests run that way. Where is the evidence that even a small fraction of the most common diseases have such a characteristic?
- bitexploder 8y agoHe was just speculating. Also, dogs can smell cancer in humans.
- anisppp 8y agoDogs have been shown to detect certain cancers at later stages (which greatly limits use as a screener.. not to mention how does the sensitivity/specificity compare to state of the art). This is not surprising since as cancers advance they cause gross biochemical changes. The further issue diagnosing cancer/no cancer or epilepsy/no is an easy problem. But train a dog/machine on 1000 or more rare diseases. Now selectivity is an actual issue. And unless you manage to overcome that, how is all this scent stuff clinically useful?
- kazinator 8y agoIn future job interviews, you will be surreptitiously sniffed by electronic devices that estimate whether you might be a liability to the health insurance group plan or a frequent absentee who uses up all the paid sick days.
- radosc 8y agoIt calls for some company to create an efficient electronic nose. Build a database of disease markers, save lives, and say farewell to the health condition privacy.
- craftinator 8y agoSweet paywall.
- lamby 8y agoThe sweet smell of dying journalism..