The genetics of sleep: Episode 10

Dr Allan Pack is the John Miclot Professor of Medicine at the University of Pennsylvania (Penn). He graduated from medical school in Glasgow and worked at the Royal Infirmary in Glasgow before relocating to the United States. He has been on the faculty at the University of Pennsylvania since 1976. He directed an NIH-funded Specialized Center of Research on sleep apnea from 1988 to 2008. He directs a Center grant—“Individual Differences in Obstructive Sleep Apnea”. Dr. Pack was the Founding Director of the Center for Sleep and Circadian Neurobiology and the Division of Sleep Medicine at the University of Pennsylvania. These are the first multidisciplinary independent sleep research and clinical sleep medicine programs to be established at any medical school in the United States.

Dr Pack’s current main area of focus is on functional genomic approaches to sleep and its disorders. He uses mouse models in his work and translates findings to humans. A major component of his research relates to the pathogenesis and consequences of the common disorder, obstructive sleep apnea, and to the effects of sleep loss. He is engaged in genetic studies and has established international consortia. Research training is also a major commitment of Dr. Pack. He currently directs three T32 grants from NIH to support research training. He has received a number of awards for his activities including the Nathaniel Kleitman Lifetime Achievement Award and the William C. Dement Academic Achievement

Dr. Louis Ptáček has used the tools of human genetics in the study of patients with an impressive range of human phenotypes. He pioneered the field of “Channelopathies” which encompasses a large group of episodic/electrical disorders of muscle, heart, and brain. His earliest work focused on a group of rare episodic muscle diseases he had proposed as models for more complex episodic/electrical disorders like cardiac arrhythmias and epilepsy.

In an elegant set of papers, he systematically cloned and characterized all the genes causing a variety of familial periodic paralyses. All encode ion channels and work from his and other labs have shown that homologs of these are the cause of some forms of cardiac arrhythmias, epilepsy, and migraine headache. Subsequently, his group has done extensive work in characterizing the functional consequences of disease-causing mutations.

To this point, Dr Ptáček’s work had focused on human diseases. In another line of work motivated by a family with an interesting phenotype, he has now embarked into the challenging field of behavioral genetics. He and his colleague, Ying-Hui Fu, study the genetics of human sleep phenotypes. Familial advanced sleep phase (FASP), is manifest as a lifelong trait of extremely early sleep times and early morning awakening (1 am – 4 am). Ptáček and Fu have gone on to characterize mutations in a growing list of genes that underlie the phenotype in ~15% of FASP families. 

After completing his undergraduate training at the University of Edinburgh, Dr Michael Farquhar trained in general paediatrics, respiratory medicine and sleep medicine at the Royal Hospital for Sick Children (Glasgow), Nottingham Children's Hospital, The Children's Hospital at Westmead (Sydney), Sydney Children's Hospital and Great Ormond Street Hospital (London). Mike joined the Evelina London sleep medicine team as a consultant in 2012. He holds weekly general sleep, hypersomnia and adolescent sleep clinics, and supports Evelina London’s busy diagnostic sleep study service. He also works with colleagues across Evelina London to support sleep in children and young people with complex medical difficulties.

In 2018, Mike and colleagues from the Department of Children’s Sleep Medicine worked with the PSHE Association to develop lesson plans to introduce teaching about sleep into the Personal, Health, Social and Economic curriculum in schools across England, emphasising the importance of helping all children, young people – and their families – to prioritise sleep in their lives. Mike is involved in educating healthcare professionals on the importance of sleep and the impact of fatigue on healthcare, with a focus on sleep for staff working night shifts. His work led to the introduction of the “HALT: Take A Break” campaign for GSTT staff in 2017, and he has worked with organisations including the Royal College of Paediatrics and Child Health, Association of Anaesthetists of Great Britain and Ireland, the Royal College of Anaesthetists, the Royal College of Nursing and the British Medical Association in this area. In 2018 he was awarded the Association Award by AAGBI for his contribution to the #FightFatigue campaign.

Mike has a strong interest in raising awareness of issues and challenges faced by young people who identify as LGBT+, particularly when accessing NHS healthcare. In 2018, he helped develop and pilot the Rainbow NHS Badge scheme at Evelina London, which has now been adopted across Guy's and St Thomas' and beyond. In 2018, Mike was awarded the Individual Guy's and St Thomas' Trust Award in the "Respecting Others" category, in recognition of his work. 

Dr Farquhar is a member of the Royal College of Paediatrics and Child Health, the British Paediatric Sleep Association, the British Sleep Society, the European Sleep Research Society and the British Paediatric Respiratory Society. Mike can be found on Twitter @DrMikeFarquhar, where he regularly tweets about sleep-related issues affecting children and young people, as well as the importance of acknowledging the impact of workplace fatigue, and more general sleep issues. Away from work, Mike enjoys spending time in London’s theatres and can still often be found reading X-Men comics.