Category Archives: Genetic Research

Nobel Prize 2017 Awarded to Body Clock Researchers

November 23, 2017
Validation ... at last. This year's Nobel Prize for Medicine was awarded to three American chronobiologists for their research on the gene that regulates the internal biological clock. I'm thrilled this prestigious award will bring attention to how the human internal clock controls our circadian rhythms and therefore our sleep, and how many sleep disorders are caused by genetic variants and are therefore intractable. Drs. Jeffrey Hall, Michael Rosbash and Michael Young isolated the period…

First Gene Variant for Delayed Sleep Phase Disorder Discovered!

August 3, 2017
Last month, Delayed Sleep Phase Disorder sufferers rejoiced as scientists announced the discovery of a mutation in the circadian gene, CRY1. This mutation slows the circadian clock, which controls behavior such as sleep/wake cycles. People with the “night owl” variant of CRY1 have a longer circadian cycle than most, causing them to stay awake later and have trouble getting up in the morning. The finding by The Rockefeller University substantiates what DSPD sufferers have long believed - that night owl tendencies are hardwired into one's genes.…

PER3 Gene Variant and Delayed Sleep Phase Disorder

July 7, 2017
There have been numerous genetic studies for sleep disorders in humans, mammals and fruit flies (Drosophilia). Variants in the genes CLOCK, BMAL, OPN4, NFIL3, RORC, BHLHE40, ASMT, CRY1, CRY2 and PER3 can cause circadian rhythm malfunctioning. A study from 2003 found that a variant of the PER3 gene is associated with Delayed Sleep Phase Disorder. The length of the PER3 gene allele correlates with a person's tendency for morningness or eveningness - "the shorter allele was strongly associated with the delayed sleep phase syndrome patients,…

Circadian Rhythms, 101

June 13, 2017
Recently, there has been no shortage of news about circadian rhythms and sleep. Clearly, interest is growing in this topic - last Sunday's New York Times article entitled 'Yes, Your Sleep Schedule Is Making You Sick' was one of the most emailed articles for the week. Before I dive into the latest research – which holds hope for Delayed Sleep Phase Syndrome sufferers – a quick primer on circadian rhythms is in order. A circadian rhythm is any bodily process that displays an…

I Am the Night Watchman

May 2, 2017
Here's a short video from the brilliant folks at ASAPScience that highlights some of the differences between morning larks and night owls. Anthropologists theorize that delayed sleeping developed out of evolutionary necessity. In human's early days, a person in the tribe was needed to stay up overnight to protect it against predators and keep the fire going, so to speak. Although it sounds a bit far fetched, this theory is plausible. As a chronic delayed sleeper, I have long suspected I simply was…

UCSF Study – Part 2, the Results

April 23, 2017
Two years after meeting with Dr. Ptacek and participating in the study, I received the following note from the lab coordinator: "Recently, we came across some very interesting findings within your family. These findings may lead to the discovery of the first ever night owl sleep gene." Needless to say, I was THRILLED. My longstanding belief that my extreme night owl sleep behavior has a genetic basis was being proven, SCIENTIFICALLY. The coordinator asked for more of my…

UCSF Study – Part 1, My Time as a Guinea Pig

April 20, 2017
Ten years ago, I participated in a genetic study at UCSF Mission Bay's Laboratories of Neurogenetics. Overlooking the San Francisco Bay, the labs focus on human genetics and developmental neuroscience. By studying families with neurological phenotypes (which means 'heritable genetic identity'), UCSF researchers are identifying genes that cause various disorders of the nervous system, such as Parkinson's disease and multiple sclerosis. In 2006, the labs had started to research circadian sleep disorders and, naturally, I was eager to learn…

Blame Your Parents – It’s Your Genes

March 20, 2017
Evidence continues to mount that certain types of sleep behaviors are governed by our genes. Genes typically implicated in circadian sleep disorders are Period (PER1, PER2 and PER3) genes. For those who suffer from Delayed Sleep Phase Syndrome, one of the culprits is a polymorphism (which means 'genetic variation') of the PER3 gene. This research is not new - here's an excerpt from a study in a 2003 issue of Sleep magazine: "The Per3 polymorphism correlated significantly with extreme diurnal preference, the longer allele associating…