Cristen Willer | |
---|---|
Born | Niagara Falls, Ontario, Canada | March 21, 1976
Spouse | Gonçalo Abecasis |
Academic background | |
Education | Bsc, 1998, McMaster University PhD, 2003, University of Oxford |
Thesis | Genetic and environmental susceptibility to multiple schlerosis (2003) |
Academic work | |
Institutions | University of Michigan |
Cristen Jennifer Willer (born March 21,1976) is an American-Canadian bioinformatician and geneticist. She works at Regeneron Pharmaceuticals,and was formerly,until 2022,the Frank N Wilson Professor of Internal Medicine,Human Genetics,and Computational Medicine and Bioinformatics at the University of Michigan.
Willer was born on March 21,1976,in Niagara Falls,Ontario,to parents Barry Willer and Sheelagh Brooks Willer. [1] She was raised in Fort Erie,Ontario and earned her Bachelor of Science degree from McMaster University. [2] Upon graduating from McMaster in 1998,Willer enrolled at Oxford University for her PhD (completed in 2003) and completed her Postdoctoral Research at the University of Michigan (UMich) from 2004 until 2010. [3]
As a research fellow in the Department of Biostatistics,Willer was the co-first author on an international study which found seven new genes that influence blood cholesterol levels and confirmed 11 other genes previously thought to influence cholesterol. [4] Later in the year,she also helped identify 12 new genes as potential new drug targets to battle glucose levels and diabetes. [5] In addition to the six new genes,another study also confirmed that genes that predispose people to obesity act in the brain. [6]
Upon completing her research fellowship,Willer applied for an R01 grant from the National Institutes of Health to propose a statistical study to search for genes related to blood cholesterol levels. She earned the grant and also became a member of UMich's Biological Sciences Scholars Program. [2] She then joined the University of Michigan Medical School through their Biological Sciences Scholars Program in 2011. [7] In 2013,Willer was appointed an assistant professor of internal medicine,human genetics and computational medicine and bioinformatics at the University of Michigan Medical School. While serving in this role,she held a Pathway to Independence Award from the National Heart,Lung,and Blood Institute which assisted in funding her research into genes that influence heart disease risk. Alongside graduate students Ellen Schmidt and Sebanti Sengupta,her research team found 157 gene-changes in human DNA that alter the levels of cholesterol and other blood fats that could lead to new medications. [8] In recognition of her biomedical science research,Willer was the recipient of the 2015 Dean's Basic Science Research Award. [7]
Until 2022,Dr. Willer was a Professor of Internal Medicine,Human Genetics,and Computational Medicine and Bioinformatics,during which time Willer was the senior author of two publications in the journal Nature Genetics which found that coding variants explain about 1/3 of the lipid loci in Europeans. [9] She also made new genetic discoveries from several heart disease studies,including on congenital heart defects,aortic aneurysm,atrial fibrillation and blood lipid levels. [10]
In 2018,Willer launched the Michigan Racial Equality and Community Health (MREACH) program,a biobank "to help drive future genetic research towards studying diseases that disproportionately affect minorities and ensuring that future prevention strategies are optimized for minority individuals." [11] She was also appointed to work on the genome-wide association study,a team which identified 111 loci,80 of them new,for Atrial fibrillation (A-fib). [12] As the senior co-author,Willer helped compile a genetic "risk score" in order to prioritize patients at a higher risk for A-fib and discovered that people who develop A-fib early in life carry more of the risk genes than those who develop it later. [13] During the COVID-19 pandemic,Willer and her research team identified 76 notable variants with potential,11 of which were previously unreported,genes as possible future targets to address cardiovascular risk without affecting the liver or causing other metabolic disorders. [14] She also continued leading the MREACH program. [11]
Cristen Willer is married to biomedical researcher Gonçalo Abecasis. [15]
A transient ischemic attack (TIA),commonly known as a mini-stroke,is a minor stroke whose noticeable symptoms usually end in less than an hour. TIA causes the same symptoms associated with strokes,such as weakness or numbness on one side of the body,sudden dimming or loss of vision,difficulty speaking or understanding language,slurred speech,or confusion.
Digoxin,sold under the brand name Lanoxin among others,is a medication used to treat various heart conditions. Most frequently it is used for atrial fibrillation,atrial flutter,and heart failure. Digoxin is one of the oldest medications used in the field of cardiology. It works by increasing myocardial contractility,increasing stroke volume and blood pressure,reducing heart rate,and somewhat extending the time frame of the contraction. Digoxin is taken by mouth or by injection into a vein. Digoxin has a half life of approximately 36 hours given at average doses in patients with normal renal function. It is excreted mostly unchanged in the urine.
Short QT syndrome (SQT) is a very rare genetic disease of the electrical system of the heart,and is associated with an increased risk of abnormal heart rhythms and sudden cardiac death. The syndrome gets its name from a characteristic feature seen on an electrocardiogram (ECG) –a shortening of the QT interval. It is caused by mutations in genes encoding ion channels that shorten the cardiac action potential,and appears to be inherited in an autosomal dominant pattern. The condition is diagnosed using a 12-lead ECG. Short QT syndrome can be treated using an implantable cardioverter-defibrillator or medications including quinidine. Short QT syndrome was first described in 2000,and the first genetic mutation associated with the condition was identified in 2004.
The University of Ottawa Heart Institute (UOHI) (French:Institut de cardiologie de l'Universitéd'Ottawa ) is Canada's largest cardiovascular health centre. It is located in Ottawa,Ontario,Canada. It began as a department in The Ottawa Hospital,and since has evolved into Canada's only complete cardiac centre,encompassing prevention,diagnosis,treatment,rehabilitation,research,and education.
A complication in medicine,or medical complication,is an unfavorable result of a disease,health condition,or treatment. Complications may adversely affect the prognosis,or outcome,of a disease. Complications generally involve a worsening in the severity of the disease or the development of new signs,symptoms,or pathological changes that may become widespread throughout the body and affect other organ systems. Thus,complications may lead to the development of new diseases resulting from previously existing diseases. Complications may also arise as a result of various treatments.
Michigan Medicine is the academic medical center of the University of Michigan in Ann Arbor. It consists of the University of Michigan Medical School and the University of Michigan Health hospitals and healthcare centers.
Dabigatran,sold under the brand name Pradaxa among others,is an anticoagulant used to treat and prevent blood clots and to prevent stroke in people with atrial fibrillation. Specifically it is used to prevent blood clots following hip or knee replacement and in those with a history of prior clots. It is used as an alternative to warfarin and does not require monitoring by blood tests. In a meta analysis of 7 different studies,there was no benefit of dabigatran over warfarin in preventing ischemic stroke;however,dabigatran were associated with a lower hazard for intracranial bleeding compared with warfarin,but also had a higher risk of gastrointestinal bleeding relative to warfarin. It is taken by mouth.
Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers,which causes the heartbeat to become fast and irregular.
Atrial fibrillation is an abnormal heart rhythm (arrhythmia) characterized by rapid and irregular beating of the atrial chambers of the heart. It often begins as short periods of abnormal beating,which become longer or continuous over time. It may also start as other forms of arrhythmia such as atrial flutter that then transform into AF.
KCNE1-like also known as KCNE1L is a protein that in humans is encoded by the KCNE1L gene.
Arrhythmias,also known as cardiac arrhythmias,heart arrhythmias,or dysrhythmias,are irregularities in the heartbeat,including when it is too fast or too slow. A resting heart rate that is too fast –above 100 beats per minute in adults –is called tachycardia,and a resting heart rate that is too slow –below 60 beats per minute –is called bradycardia. Some types of arrhythmias have no symptoms. Symptoms,when present,may include palpitations or feeling a pause between heartbeats. In more serious cases,there may be lightheadedness,passing out,shortness of breath,chest pain,or decreased level of consciousness. While most cases of arrhythmia are not serious,some predispose a person to complications such as stroke or heart failure. Others may result in sudden death.
Celivarone is an experimental drug being tested for use in pharmacological antiarrhythmic therapy. Cardiac arrhythmia is any abnormality in the electrical activity of the heart. Arrhythmias range from mild to severe,sometimes causing symptoms like palpitations,dizziness,fainting,and even death. They can manifest as slow (bradycardia) or fast (tachycardia) heart rate,and may have a regular or irregular rhythm.
Michael Lee Boehnke is an American geneticist. He is the Richard G. Cornell Distinguished University Professor of Biostatistics at the University of Michigan School of Public Health,where he also directs the Center for Statistical Genetics. His research focuses on the genetic dissection of complex traits;in a career spanning 25 years,he has developed methods for analysis of human pedigrees,examined the history of breast cancer in genetically at risk individuals,and contributed important discoveries on the genetics of type 2 diabetes and related traits,such as obesity and blood lipid levels.
Masonic Medical Research Institute (MMRI) is a non-profit medical research center located in Utica,New York. The institute studies experimental cardiology with an emphasis on cardiac arrhythmias,ischemic heart disease and sudden cardiac death. Research topics also include autism,Noonan Syndrome,brown fat,nano-imaging,targeted drug delivery,and more. There are five Principal Investigators at MMRI,each with their own lab,team,and area of study. The Institute's research and staff are independent,but MMRI gets its name from its original funding in 1958 by the Masonic Grand Lodge of New York.
Gonçalo Rocha Abecasis is a Portuguese American biomedical researcher at the University of Michigan and was chair of the Department of Biostatistics in the School of Public Health. He leads a group at the Center for Statistical Genetics in the Department of Biostatistics,where he is also the Felix E. Moore Collegiate Professor of Biostatistics and director of the Michigan Genomic Initiative. His group develops statistical tools to analyze the genetics of human disease.
Karen L. Mohlke is a biologist at University of North Carolina,Chapel Hill. She is known for her work in human genetics,especially in the area of diabetes research. She was one of the first researchers to use exome array genotyping.
Eleftheria Zeggini is a director of the institute of translational genomics in Helmholtz Zentrum München and a professor at the Technical University of Munich (TUM). Previously she served as a research group leader at the Wellcome Trust Sanger Institute from 2008 to 2018 and an honorary professor in the department of health sciences at the University of Leicester in the UK.
Robert Roberts,is a cardiologist,geneticist,academic,and medical researcher.
Rebecca Miriam Cunningham (1970) is an American emergency physician and researcher. She is the vice president for research at the University of Michigan,and William G. Barsan Collegiate Professor in the Michigan Medicine Department of Emergency Medicine,and Professor of Health Behavior and Health Education at the School of Public Health.
Sharon Lee Reilly Kardia is an American epidemiologist. She is the Millicent W. Higgins Collegiate Professor of Epidemiology and Associate Dean for Education at the University of Michigan School of Public Health. Her research interests involve genetic epidemiology of common chronic diseases.
A little over 10 years ago, I married Cristen Willer, whom I met during my doctoral studies at Oxford.