Category Archive for "Genetic Research"

Part 2 – My Patient Story on SRBR.org

March 1, 2021

This patient story was originally posted on Society for Research on Biological Rhythms (SRBR) Night owls have organized and our ranks are growing. Groups like the Circadian Sleep Disorders Network and B-Society are advocating for people with late chronotypes – building awareness of flexible work and school schedules, reducing stigma, and increasing federal funding for sleep research. Late chronotypes (“night owls”) are awake when most people are sleeping for different reasons. Some have a preference or habit for staying up late,…

Did Elvis Have Delayed Sleep Phase Disorder?

August 16, 2020

43 years ago today, Elvis died at his Graceland mansion in Memphis. He was just 42 years old. Although Elvis' actual cause of death was listed as cardiac arrhythmia, his heart attack is now considered to be the result of chronic prescription drug abuse. Beginning in the 1960’s, Elvis developed a dangerous dependency on amphetamines, sedatives and barbiturates. Much has been written about what drove Elvis to self-medicate - was he trying to cope with…

Talk at the Stanford MedX Conference

January 15, 2020

At the Stanford Medicine X conference in September, I gave a talk titled 'Night Owls and Late Chronotypes Unite — Let's Stop Living Against Our Body Clocks.' I explained what Delayed Sleep Phase Disorder is, the challenges of diagnosing it, and its possible causes including recently discovered genetic variants. Attendees learned that the 2017 Nobel Prize for Medicine was awarded to scientists studying the circadian clock, and that research in how a person's circadian clock affects their…

My Letter to Governor Jerry Brown Regarding SB 328 For Later School Start Times

September 19, 2018

The Honorable Edmund G. Brown Jr. Governor, State of California State Capitol, First Floor Sacramento, CA 95814 RE: Senate Bill 328 – Request for Signature Dear Governor Brown: Please sign into law Senate Bill 328, a public health measure ensuring the health and safety of California adolescents. It would require the school day for middle schools and high schools to begin no earlier than 8:30 am by July 1, 2021. Frustrated by early school start…

Nobel Prize Awarded to Body Clock Researchers

February 23, 2018

Validation ... at last. This year's Nobel Prize for Medicine was awarded to three American chronobiologists for their research on one of the genes that regulates the internal biological clock. The prestigious award will bring attention to how the human internal clock controls our circadian rhythms and therefore our sleep, and how some sleep disorders are physiological - not psychological - problems. Drs. Jeffrey Hall, Michael Rosbash and Michael Young isolated the period gene, a…

CRY1 – The First Gene Mutation for Delayed Sleep Phase Disorder Discovered!

November 13, 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.…

I Am the Night Watchman

September 15, 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 humans' 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 to me. As a chronic delayed sleeper, I have long suspected I…

PER3 Gene Mutation and Delayed Sleep Phase Disorder

September 1, 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."…

UCSF Circadian Sleep Disorder Study – The Results

August 27, 2017

Two years after my father and I participated in Dr. Ptacek's 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 pattern has a genetic basis was being proven, SCIENTIFICALLY. The coordinator asked for more of…

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

August 26, 2017

Ten years ago, I participated in a DNA study at UCSF Mission Bay's Laboratories of Neurogenetics. Overlooking the San Francisco Bay, the lab focuses 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…

Delayed Sleeper

Category Archives: Genetic Research