I‘m a scientist diagnosed with delayed sleep phase disorder (DSPD). I studied the related protein CRY2 for part of my PhD (ironically not why I joined the lab), and now I’m doing human genomics research. It’s encouraging that this recently described heritable mutation causing familial DSPD is getting more attention. Most normal chronotypes (non-night owls) don’t even know DSPD is a thing. The Facebook groups for DSPD are full of truly emotional stories about how hard life with DSPD is. They are also full of people connecting over relief and validation that we’re neither freaks nor consciously at fault for our late schedules.
Unfortunately, accessible genetic testing is probably a long way away. It looks like 23andMe won’t tell you if you have this mutation; the variant rs184039278 that causes CRY1 Δ11 disappointingly isn’t part of their panel. Whole exome sequencing might work, or might not, depending on the capture kit. But if you suspect you have DSPD, my advice is to see a sleep doctor as soon as possible to get a diagnosis. You’ll get prescribed a morning light box like I did. Your brain will get tricked into thinking it’s later than it actually is. It’s not a cure, but life and the 9-5 should get a little bit easier.
Anyone looking for a cheap morning light box should consider a grow lamp. They are designed for plants but they work pretty well for humans too. You get a lot more power per dollar than the human ones which are usually at the bottom end of the required light output. If you pair it with a smart home relay (or microcontroller with relay module if you are so inclined) you can have it turn on automatically with your alarm.
I use a 100W 16x16 LED array grow lamp and if you're within 3ft it feels like a sunny day.
I also recommend if you think you might have DSPD that you get bloodwork for cortisol and prolactin. Some people who don't have the mutation still have the symptoms because their cortisol is permanently elevated (chronic stress) and only falls when they are exhausted. Both can be treated with a light box and relaxing activities in low light in the evening but if you have elevated cortisol you may also need to consider additional treatment option for chronic stress. It's also possible to have both because constantly being on a different sleep schedule to the rest of the world can cause chronic stress.
Can you tell us which LED grow lamp you use and which stand? I tried searching on Amazon but all of the product descriptions lie about their power usage.
I just investigated and it seems my 100W lamp is actually only 35W but they lie about power usage because it's supposed to be equivalent brightness to a 100W incandescent bulb. Should have coped it when I noticed there was no cooling system (though it does get very hot). Either way the lamp I use is a Black Shark B07QVGNGM8 and even at 35W I can confirm it's still blindingly bright.
I know it was a joke, but just in case: one grow-lamp turned on for an hour in the morning is unlikely to trigger alerts. Growers usually run several lamps, and they keep them on most of the day - long enough to be comfortably captured on thermal cameras, which police tend to use at night anyway.
I'm interested in trying to determine whether or not someone I know has this disorder by examining their 23andMe data (with their consent, of course). I imagine that it might be possible to write a program that does this for me, but I only have a high school-level understanding of genetics.
Can you recommend any resources for me to consult to try to accomplish this? Or do you think it would be too difficult for someone outside your field to attempt?
I see you mentioned that 23andMe data doesn't expose this result directly, but it seems like it might be in the full data export. If that's not the case, I suppose there's not much of an option.
23andMe doesn't do genome sequencing per se... they use a SNP array. It's basically a collection of DNA probes that each hybridize with a specific genetic variant. According to a forum I read, they don't have a probe for this specific CRY1 variant. So if your friend doesn't have the variant listed in their 23andMe tab-delimited list of variants, that doesn't mean they don't carry it.
You said you're interested in writing a program to look for this in the raw tab-delimited data. It would be totally doable! Just grep the tsv for the rs ID of interest. In this case it will be rs184039278. If doing more exploratory stuff, you'll probably want to connect variants with annotations. SNPedia has a database of descriptions of what the variants do. Biostars is a decent, dedicated resource for help with stuff like this.
Unfortunately, accessible genetic testing is probably a long way away. It looks like 23andMe won’t tell you if you have this mutation; the variant rs184039278 that causes CRY1 Δ11 disappointingly isn’t part of their panel. Whole exome sequencing might work, or might not, depending on the capture kit. But if you suspect you have DSPD, my advice is to see a sleep doctor as soon as possible to get a diagnosis. You’ll get prescribed a morning light box like I did. Your brain will get tricked into thinking it’s later than it actually is. It’s not a cure, but life and the 9-5 should get a little bit easier.