Posted by Brigham and Women's Hospital July 21, 2015
BWH researchers discover six new gene variations that may influence levels of coffee consumption.
Can you function without coffee? If you’re like a majority of Americans, your answer is probably no. More than 90 percent of adults regularly consume caffeine on a regular basis, with coffee being the main source. Not all adults drink coffee, however. Research suggests that genetics may explain why many adults habitually drink caffeine while others can’t tolerate it.
A study by Brigham and Women’s Hospital (BWH) and the Harvard School of Public Health discovered that coffee consumption habits can be partially attributed to our DNA. These findings come from a study observing DNA differences among 20,000 regular coffee drinkers of European and African American ancestry. Subjects self-reported how much coffee they drank on a regular basis. Results were compared to their DNA scans to test for any associations. The study discovered six new genetic variations that play a role in consumption behavior and metabolism of caffeine. Subjects in the study that had most of these genes present were found to consume more coffee as compared to those with fewer of these genes.
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Posted by Brigham and Women's Hospital August 15, 2013
Does genetics play a role in the varying rates of cognitive decline among Alzheimer's patients?
Thanks to some intercontinental teamwork, researchers have identified a gene that may help explain why certain Alzheimer’s disease patients experience a more rapid decline in cognitive (thinking) abilities.
Brigham and Women’s Hospital (BWH) medical geneticist Dr. Robert C. Green first recognized that there may be a genetic explanation for why cognitive decline rates vary widely among Alzheimer’s disease patients after analyzing data from a large treatment trial. Even after screening out individuals with vascular disease and other medical conditions known to influence cognition, Dr. Green found that there was still significant variability in the rate of decline among remaining participants.
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Posted by Brigham and Women's Hospital February 20, 2013
DNA sequencing is an important tool for discovering the cause of rare diseases.
According to the National Organization of Rare Disorders (NORD), there are nearly 7,000 rare diseases that affect nearly 30 million Americans, or approximately one in ten Americans. Eleven-year-old Adam Foye from New Jersey is among this group. Adam suffers from a condition known as centronuclear myopathy; fewer than fifty affected families have been reported in scientific journals.
Patients with centronuclear myopathy suffer from progressive muscular weakness, which can create numerous challenges, including the need for a wheelchair and a ventilator. Some patients also may have life-threatening heart problems.
Because of their scarcity, the correct diagnosis of rare diseases can take many years and effective treatments are few. Now, thanks to an international contest sponsored by Boston Children’s Hospital, Adam and his family have new insight into the possible cause of Adam’s disease. This insight may lead to improved care for Adam and other rare disease patients.
The contest, known as the Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information (CLARITY), challenged 30 teams of researchers to solve the medical mysteries of three families, including Adam and his family, by studying their genes through a process called DNA sequencing. The teams were asked to interpret and analyze the DNA sequences of the samples and communicate their results in a way that would help physicians easily explain the results to patients and their families.
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Posted by Brigham and Women's Hospital December 5, 2012
Dr. Morton's research team has discovered a genetic risk for developing uterine fibroids.
If you’re living with uterine fibroids, you’re not alone. The good news: research from BWH will lead to improved screening strategies and better treatments.
Uterine fibroids, the most common type of pelvic tumors in women, can contribute to fertility challenges and are the leading cause of hysterectomy in the United States. Found in 75 percent of women of reproductive age, they are benign and also can cause abnormal vaginal bleeding, pelvic pain, and pregnancy complications.
The new research from BWH shows the discovery of a genetic risk allele (an alternative form of a gene) for uterine fibroids in white women. The research team analyzed genetic data from over 7,000 white women because none of the study groups contained enough black women to provide meaningful scientific results in this population. This finding will pave the way for new screening strategies and treatments for uterine fibroids.
“Our discovery foretells a path to personalized medicine for women who have a genetic basis for development of uterine fibroids,” said Cynthia Morton, PhD, Director of the Center for Uterine Fibroids and the senior study author. “Identification of genetic risk factors may provide valuable insight into medical management.”
Posted by Brigham and Women's Hospital November 28, 2012
Dr. Robert Green, winner of the first BRIght Futures Prize.
On November 15, 2012, the Biomedical Research Institute (BRI) at Brigham and Women’s Hospital (BWH) held its first Research Day. The day-long public celebration featured a discussion on the importance of medical research and included 150 poster presentations by leading BWH researchers on today’s hottest health topics, such as obesity, healthy aging, and personalized medicine.
But the highlight of BWH Research Day was the announcement of Dr. Robert Green as the winner of the $100,000 BRIght Futures Prize. Just as exciting: the use of crowdsourcing, or relying on the collective wisdom of groups, to choose the winner.
Dr. Green was named the winner after nearly 6,500 people from around the world voted for the three finalists online. Dr. Green and his research team are searching for effective and responsible ways to use DNA sequencing technology in newborns to help families understand a child’s genetic risk for developing diseases such as diabetes, heart disease, or cancer.
In addition to Dr. Green’s project, the other finalists included a project jointly led by Drs. Phil DeJager and Elizabeth Karlson, whose proposal focused on using genetics and electronic health records to treat multiple sclerosis and a project led by Dr. Robert Plenge, whose proposal focused on the use of technology to unravel the mysteries of the immune system. Read our recent blog post to learn and view more about all three projects.
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Posted by Brigham and Women's Hospital October 4, 2012
We have three great medical research ideas – but only one prize.
The Brigham and Women’s Hospital (BWH) Biomedical Research Institute (BRI) is going to award its first-ever $100,000 BRIght Futures Prize to one of three entrants next month, and they’re looking for your help.
Earlier this year, the BRI asked BWH staff to submit provocative medical questions that they would like to see answered by their research colleagues. From these responses, BRI leadership selected two themes and invited the BWH research community to design research projects to address these themes. These three projects were selected as finalists:
Exploring Genome Sequencing of Newborns – to determine responsible ways to use DNA sequencing to enhance patient care.
Robert C. Green, MD, MPH, BWH Division of Genetics, Department of Medicine
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Posted by Brigham and Women's Hospital July 24, 2012
Researchers at DFCI and BWH have launched one of the world's most comprehensive cancer research studies.
They are dedicated to helping future cancer patients as they fight cancer today. During the past year, more than six thousand people with cancer have enrolled in Profile®, a new genotyping research study by Dana-Farber Cancer Institute (DFCI) and Brigham and Women’s Hospital (BWH).
As one of the most comprehensive cancer research studies, Profile provides cancer researchers at DFCI and BWH with one of the world’s largest databases of cancer genetic abnormalities. Over time, this growing body of information will help scientists discover more about the genetic causes of cancers and increase the development of new, targeted therapies to treat them.
“Most patients enrolling in Profile do not directly benefit from the study, but they are helping many others who will be diagnosed with cancer down the road,” says Dr. Monica Bertagnolli, Chief of the Division of Surgical Oncology at Brigham and Women’s Hospital.
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