Research Initiatives

Lucia Sobrin, MD, Ophthalmology Department at Massachusetts Eye and Ear 

Uveitis is a disease in which inflammation develops in the eye. This inflammation can cause damage to the eye structure. In many cases, the inflammation is created by an inappropriately activated immune system which targets the eye tissues.

Vitamin D has been shown to have an important role in regulating the immune system. Some studies have shown that patients with uveitis tend to have lower vitamin D levels than patients who do not develop uveitis. However, it is unclear whether low vitamin D levels are truly causing uveitis.

Dr. Sobrin is using samples from the Mass General Brigham Biobank to further investigate whether low Vitamin D levels may be one of the causes of uveitis. She is examining genes that determine Vitamin D levels to see whether uveitis patients tend to have genetic factors that predispose them to low Vitamin D levels.

Nasim Maleki, PhD, Psychiatry and Neuroimaging Research at Massachusetts General Hospital

Migraine is a complex, hereditary, sexually-dimorphic neurological disorder that is a major health problem, particularly for reproductive-aged women. The incidence of the disease increases dramatically in females after puberty, however the cause of this increase still remains elusive. One potential possibility is a genetic predisposition to certain phenotypic changes in the brain that emerges during puberty. Dr. Maleki’s aim is to investigate links between the genetic regulation of pubertal development and the risk of migraine and associated brain changes in women. This information is important in improving understanding of migraine onset and progression, which may facilitate the identification of novel drug targets for modifying the course of migraine in susceptible individuals.

Hamed Khalili, MD, MPH, Gastrointestinal Unit at Massachusetts General Hospital

Microscopic colitis (MC) is a chronic inflammatory disorder of the large intestine that primarily affects postmenopausal women. The disease is characterized by debilitating diarrhea. Little is known about the pathophysiology of the disease and there are currently no FDA-approved medications for treatment of MC. Dr. Khalili is using samples from the Mass General Brigham Biobank to examine the genetic basis of the disease. These studies will shed significant light on the underlying cause of MC and will ultimately lead to identification of novel pathways that could be targeted for effective treatment.

Susan Redline, MD, MPH, Sleep Medicine Division at Brigham and Women’s Hospital

Millions of people are plagued by sleep disorders. Lack of sleep or chronically interrupted sleep can lead to a decline in your overall health, and even make you more susceptible to certain health issues. Dr. Susan Redline and her team at Brigham and Women’s Hospital are trying to find out why people get sleep disorders, how sleep disorders affect daily life, and how satisfied people are with treatment. To help answer these big questions, study participants fill out questionnaires and take brain quizzes on the computer, tablet, or smartphone. Biobank blood samples will help uncover how sleep health is affected by genes. Over time, the study team hopes to answer questions such as: why some people are sleepier than others, and why some people respond better than others to various treatments. By answering these question, Dr. Redline’s team hopes to improve both the care received and quality of life for so many patients plagued by sleep disorders.

Andrew Schoenfeld, MD, Orthopedics at Brigham and Women’s Hospital

Spondylolisthesis is a spinal condition that results in the displacement of vertebrae in a patient’s spine. This causes significant back pain and changes in posture. It is believed that spondylolisthesis is caused by a multitude of unknown genetic factors. Dr. Schoenfeld and his team are using Mass General Brigham Biobank samples to outline which genetic factors play a role in the development of spondylolisthesis. Samples from patients with a confirmed diagnosis offer researchers the chance to identify common genetic markers or variants that could prove useful in diagnosing future patients with the condition.

Kerry J. Ressler, MD PhD, and Stephanie Maddox, PhD, Depression and Anxiety Disorder Division at McLean Hospital

Thyroid hormone dysfunctions including hyper and hypothyroidism have been well noted to have symptom presentations, such as heightened anxiety and impaired mood and cognition. These are also core features of trauma, mood, and anxiety-related psychiatric disorders. The goal of this work is to examine the temporal relationship between thyroid hormone disorder and psychiatric illness to better understand if thyroid hormone dysfunction regardless of medical intervention presents increased risk for psychiatric conditions.  In addition, the genetic relationship between conditions such as Hypothyroidism and Major Depressive Disorder (MDD) is being examined in an attempt to identify the shared biology that may exist between these conditions.  Eventually, such findings may enable the development of targeted therapeutic options for individuals with psychiatric disorders that may be rooted in thyroid hormone imbalance. 

Andrew Allegretti, MD, MSc, and Neal Shah, MD, Department of Nephrology at Massachusetts General Hospital

Kidneys play an important role in the human body, filtering blood and preventing the buildup of waste and extra fluid. People with Chronic Kidney Disease (CKD) suffer from persisting damage to the kidneys that causes decreased functioning that can lead to renal failure. Normal human blood has good bacteria to help it function. Lifestyle factors can cause overgrowth of bad bacteria in gut which can enter into blood and cause inflammation and associated CKD. Members of the Kidney Research Center, led by Dr. Andrew Allegretti and Dr. Neal Shah, are studying this association by measuring the bacterial profile in blood of CKD patients and comparing it to healthy controls. The Mass General Brigham Biobank provided the blood samples for this measurement. The goal of this research is to better understand the impact of the microbiome, the collection of bacteria and microorganisms that make up the human body, on CKD with a hope for better future treatment.

Ronglih Liao, PhD, Cardiac Amyloidosis Program at Brigham and Women’s Hospital 

Heart failure is one of the leading causes of death in the United States. Transthyretin cardiac amyloidosis is a type of heart failure caused by protein buildup in the heart. It is becoming increasingly common in the aging population; however, little remains known about the cause of this disease, and currently there is no approved treatment. To better understand which individuals are at risk of cardiac amyloidosis, Dr. Ronglih Liao aims to identify specific molecules in the blood that play a role in causing the disease. Dr. Liao and her colleagues are using the Biobank to analyze blood samples from individuals with and without cardiac amyloidosis. The results of this study may lead to earlier disease detection and treatment for transthyretin cardiac amyloidosis.

Michelle Conroy, MD, Division of Allergy and Immunology at Massachusetts General Hospital

Previous basic science research supports that specific sugars attached to IgE antibodies promote allergic inflammation. Dr. Conroy is using Biobank samples of participants that have been diagnosed with allergic asthma or eczema, two of the most common allergic diseases, to study IgE glycosylation in subjects with these allergic diseases. The goal of this project is to identify additional factors that contribute to development and expression of allergic diseases.

Patrick T. Ellinor, MD, PhD, Cardiac Arrhythmia Service at Massachusetts General Hospital

Heart disease is the most common cause of death in the Western world and is influenced by various factors including your environment, your lifestyle and what you inherit from your parents.  The focus of Dr. Patrick Ellinor’s research is to better understand how your genes contribute to your likelihood for developing one type of heart disease due to an irregular heartbeat or cardiac arrhythmia. 

The primary focus of his research is to learn more about a common irregularity of the heartbeat called AFib or atrial fibrillation. AFib affects over 30 million individuals in the US and is a leading cause of stroke in the elderly. The genomic data and samples available in the Mass General Brigham Biobank play a key role in identifying individuals. The goal is to collect and analyze DNA from individuals with and without AFib to help identify new genes for this common condition.

Lucia Sobrin, MD, MPH, Department of Ophthalmology at Massachusetts General Hospital

The use of steroid medications to reduce inflammation was a major breakthrough in the treatment of various autoimmune and inflammatory diseases. However, these medications can have side effects, including a condition in which the eye is damaged as a result of steroid medications – called steroid-response glaucoma.  

A person’s genes may determine if someone will be a steroid responder or non-responder. It has also been suggested that patients who have increased pressure in their eye are more susceptible to further increases in pressure with steroids.  This study analyzes blood samples from both steroid responders and non-responders to understand what genes may lead to a steroid response.  

The goal of this research is to better understand the genetic differences that lead to a steroid response. Dr. Sobrin and her team are using Biobank genomic data to compare the genetic codes from patients who have had a steroid response to the code from those who have not had a steroid response to identify the implicated genetic differences. An improved knowledge of the influence of a person’s genes on their likelihood of developing a steroid response will help clinicians more effectively treat disease while mitigating adverse side effects. 

Manish Gala, MD, Department of Gastroenterology at Massachusetts General Hospital

Sessile serrated polyps (SSPs) are pre-cancerous growths in the colon. To better understand what role genetics play in developing SSPs, Dr. Manish Gala’s research team is studying the genes of healthy individuals ages 90 and older.  The prediction is that these healthy individuals are missing genes that cause disease and/or have genes that prevent disease.  

To test this hypothesis, Dr. Gala and team utilized Biobank samples to examine the exomes from the healthy individuals’ DNA. The exome is the part of DNA where the majority of disease-causing mutations occur. Results from these tests will be compared against data from a large pre-existing database of genetic information that will help identify other genes that could lead to diseases of the colon.

Hiroyuki Yoshida, PhD, Department of Radiology at Massachusetts General Hospital

Dr. Yoshida’s group is developing a way to use a certain kind of scan, called computerized tomography colonography (CTC), for examining the colon.  A CTC scan provides a computer-graphic view of the colon, which is the final section of the digestive system, and will allow for a quicker and more accurate diagnosis of lesions in the colon.

Dr. Yoshida and his research team are investigating a new method to accurately and automatically detect colonic lesions by extracting shape and texture features of the lesions on the scanned images. By combining the images with genomic data from Biobank participants, researchers are able to characterize the colonic lesions. Further, his team is investigating a way to replace pre-exam laxative cleansing with the electronic cleansing of the colon to make the examination easy to tolerate for patients while allowing doctors to have a better view of the entire colonic mucosa.

Andrew J Cole, MD, Department of Neurology at Massachusetts General Hospital

Epilepsy is a brain disorder that causes recurrent seizures, which can vary in type and length. Around 60% of those diagnosed with epilepsy do not know the cause of their disorder, making it difficult to predict who will develop the illness. To aid in the understanding of disease incidence and progression, Andrew Cole, MD, and his fellow researchers are using the Biobank to identify biomarkers, or disease predictors, of epilepsy. One of the reasons they are using Biobank blood samples is to look at the DNA of patients with Alzheimer’s disease to determine whether there are genetic factors that would predispose them to also developing epilepsy.  Additionally, Dr. Cole and colleagues are collaborating with several national NIH funded studies to look for genetic abnormalities that predict the occurrence of sudden unexpected death in epilepsy (SUDEP), a feared and dramatic complication of the disease in up to 1% of affected individuals.

Laura Brenner, MD and Jose Florez, MD, PhD, Department of Endocrinology at Massachusetts General Hospital

Drs. Laura Brenner and Jose Florez have teamed up to examine whether the presence of specific gene variants in someone’s DNA can be responsible for different responses to either food or a medication commonly used in type 2 diabetes. Using a common test for diabetes, researchers are focusing on foods containing protein, carbohydrates and fat and on the type 2 diabetes drug metformin. They are exploring the possibility that people carrying the particular gene variants associated with type 2 diabetes (e.g. inSLC16A11) and the people who don’t have these gene variants will have a different reaction to those foods and to metformin.

Kyle Williams, MD, PhD, Department of Psychiatry at Massachusetts General Hospital

Immunodeficiencies prevent the body from fighting infections and diseases, and can make it easier to catch viruses and bacterial infections. Dr. Williams’ research seeks to learn more about immunodeficiencies in children with psychiatric disorders like Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS), Tourette Syndrome, and Obsessive Compulsive Disorder (OCD). Previous studies suggest that kids who have both Tourette Syndrome and PANDAS are more likely to have immune deficiencies than the general population. 

The purpose of this research is to compare the number of children with any type of immune deficiency who also have PANDAS, Tourette Syndrome, and OCD with children who don’t have these disorders to better understand the connection and help inform future research efforts between psychiatric disorders and immune deficiency.   

Richa Saxena, PhD, Department of Anesthesia, Critical Care and Pain Medicine at MGH

The Mass General Brigham Biobank has provided Dr. Richa Saxena and her team a unique opportunity to advance their research on understanding the link between sleep, genetics, and common chronic diseases. For example, the genetic data of participants with sleep-related disorders, such as sleep apnea, made it possible for Dr. Saxena to identify genes associated with the disease. Additionally, the Biobank’s Health Information Survey allowed Dr. Saxena to investigate whether sleep duration, as self-reported in the survey, is related to common chronic diseases, such as type 2 diabetes. The researchers are using Biobank genetic data and Health Information Survey data to identify and recruit day- and night-shift workers who might be interested in participating in the SHIFT study. To learn more about how you can get involved in the SHIFT Study, email SHIFTStudy@partners.org or Dr. Saxena at rsaxena@partners.org.

Alarice Lowe, MD, Director of Circulating Tumor Cell Laboratory, Department of Pathology at BWH

Patients with early and late stage cancers have been found to have rare tumor cells in their blood, known as Circulating Tumor Cells (CTCs). Dr. Alarice Lowe is researching how to develop better systems to identify these CTCs and test them with standard pathology protocols. Her research has allowed her to recently publish a paper confirming the use of routine methods used in a cytology laboratory to process CTC samples. Dr. Lowe is currently using Biobank samples to test new CTC systems and protocols.  By gathering specific information about how to best perform testing on these samples, she is working to determine what aspects of the CTCs in the blood are predictive of cancer. The goal is to replace invasive biopsy tests, which is the primary way to diagnose cancer, with a blood test. Continued CTC research has the potential to pave the way for earlier screening of cancer detection.

Shiv Pillai, MD, PhD, Center for Cancer Research at MGH

IgG4-related systemic disease (IgG4-RSD) is a recently identified autoimmune disease, which means the body’s immune system attacks healthy cells. IgG4-RSD often mimics cancer by causing swelling of an organ to resemble a tumor in middle-aged and older adults. The most common organs that IgG4-RSD effect include, aorta tissue, kidneys, lungs, and pancreas. Some patients have even undergone unnecessary surgery because the organ swelling was misinterpreted as a malignant (cancerous) tumor. The swelling in patient with IgG4-RSD is actually due to the immune system attacking the organ itself and not cancer at all. The focus of this research is to determine what protein in the organ the immune system is responding to. Mass General Brigham Biobank samples are being used as healthy controls to IgG4-related disease patients to compare responses to different proteins. If IgG4-RSD is diagnosed early, doctors can usually control the inflammation within organs and prevent further damage through traditional steroid therapy.

Vladimir Valtchinov, PhD and, Atul Shingare MD, Center for Evidence Based Imaging, Department of Radiology at BWH

Renal Cell Carcinoma (RCC), the most common type of kidney cancer, accounts for close to 90 percent of all cancers of the kidneys. A substantial number of well-established gene variants are associated with the development of RCC. The goal of this research is to establish and assess clinical relevance of correlations between diagnostic imaging (on MRI and CT scans) and established gene variants (both hereditary and sporadic) in RCC, and further assess their predictive relevance with outcomes and treatment options.

Researchers have initiated a retrospective study of QI features from CT and MRI diagnostic imaging and mutational profiles as revealed by extensive SNP genotyping of Mass General Brigham Biobank participants. Additionally, this study also aims to provide one of the first comprehensive and statistically adequately powered surveys of the relationship between the presence of established risk alleles and occurrence of RCC in the US population. The Biobank played a key role in the initiation of the case-control study for the Northeast population because of the extensive SNP array genotyping and subject phenotyping the Biobank has available.

Jennifer Haas, MD, MSPH, Department of Medicine at Brigham and Women’s Hospital

Dr. Haas and her team are working with the Population-based Research Optimizing Screening through Personalized Regimens (PROSPR) program, a major research effort funded by the National Cancer Institute, to find new ways to improve breast cancer screening and diagnosis. The goal of PROSPR is to improve screening methods for breast, colorectal, and cervical cancer. Brigham and Women’s Hospital, the Geisel School of Medicine at Dartmouth College, the University of Pennsylvania, and the University of Vermont are the leading breast cancer research sites for the PROSPR program. 

About 1 in 8 women will develop breast cancer in her lifetime. It is crucial that patients who are screened for breast cancer are seen at the right time, using the test that is best suited for them. Using data from the Biobank health information surveys, the PROSPR program was able to identify women with a family history of breast cancer. This information helped Dr. Haas and her team determine a woman’s risk of breast cancer risk to evaluate their use of screening tests. The health information questionnaire is an important component of the Biobank because this information helps researchers understand how family history contributes to the treatment and prevention of disease. By integrating family history into breast cancer screening practices, screening can be personalized to the patient, eventually moving away from the “one size fits all” approach.

James Meigs, MD, Division of General Internal Medicine at Massachusetts General

Recent genetic studies have identified dozens of common variants associated with type 2 diabetes (T2D), myocardial infarction and their associated cardiometabolic risk factors.  However, the importance of these genetic discoveries for patients in routine clinical care is not known. This study will combine genetic variant data from the Mass General Brigham Biobank with data from the MGH Division of General Medicine (DGIM) Loyalty Cohort (representing over a decade of continuous follow-up for more than 150,000 MGH patients, including about 20,000 with diabetes) for genetics outcomes studies. We plan to test hypotheses that genetic variants known to increase risk for T2D, or associated with measures of blood glycemia, also increase risk for T2D and risk of T2D complications like myocardial infarction, stroke, renal failure and high health care utilization. The study will evaluate translation of genetic discovery into clinical and public health application to improve care and outcomes for type 2 diabetes patients.

James Lederer, PhD, Department of Surgery at Brigham and Women’s Hospital

Dr. James Lederer is researching potential treatment strategies for people who would be hurt in a radionuclear event, such as a nuclear blast, by radiation exposure and potentially by traumatic injury, such as a burn or infection. There has been little research into the injuries incurred during a nuclear blast, and there are limited treatment options for protecting the potentially high number of people that might be injured in case of such an event. Dr. Lederer is investigating ways to restore immune system function after exposure to radiation or radiation combined with traumatic injury. He is using samples from the Mass General Brigham Biobank to test his hypothesis that stimulating the receptors for a protein called TLR9 might help protect people who are hurt in a radionuclear event. Based on Dr. Lederer’s work so far, it looks like TLR9 might play a role in restoring the immune system after it has been weakened by radiation and trauma. This work could help advance the potential development of therapies for radiation and radiation combined with injury.

Jordan Smoller, MD, Massachusetts General Hospital

As a member of the Psychiatric Genomics Consortium, Dr. Smoller and his colleagues are using 1,000 DNA samples from the Biobank to investigate the genetics of complicated psychiatric disorders such as autism and depression. The samples are providing invaluable data for several large-scale studies that are investigating the genetic markers associated with psychiatric diseases. The goal of these studies is not only to identify genetic markers associated with psychiatric diseases, but to use these findings to better understand the biology behind psychiatric disease. Eventually, this team of scientists hopes to develop more targeted treatments for patients who live with psychiatric illness.

Philip De Jager, MD, PhD, Department of Neurology at Brigham and Women’s Hospital

The Biobank subjects were used as control subjects in the largest genetic study of multiple sclerosis (MS) to date. Involving over 115,000 subjects, this project is nearing completion and has identified over two hundred different genes involved in the onset of this autoimmune disease that attacks the brain and spinal cord of young adults. The study generated data from several hundred thousand genetic variants found throughout the human genome. Moreover, the data generated from this study have been returned to the Mass General Brigham Biobank and have been repurposed by other investigators to support their studies.

Christine E. Seidman, MD, Division of Cardiovascular Medicine at Brigham and Women’s Hospital

Hypertrophic Cardiomyopathy (HCM) is a cardiac disease that causes abnormal thickening of the heart muscle. Patients experience symptoms ranging from shortness of breath and chest pain, to palpitations, fainting, abnormal heart rhythms, and heart failure. The most dramatic presentation of HCM is sudden cardiac death which is the leading cause of sudden death in young athletes. As an inheritable heart disorder, it is the most common single gene cardiac disorder. Dr. Christine Seidman and her research team discovered the first gene that causes HCM many years ago. Despite progress in earlier diagnosis of HCM through clinical genetic testing, a causal mutation is not identified in all patients with HCM. The genetic causes for HCM are unknown in approximately 50% of patients who have no family history of this disorder. By utilizing the power of the Biobank to perform targeted gene sequencing and/or broad-based sequencing, Dr. Seidman and her team are identifying new HCM genes in patients with uninformative clinical genetic testing.

Stephen J. Elledge, PhD, Division of Genetics at Brigham and Women’s Hospital

Viruses are thought to initiate or potentiate the pathogenesis of a variety of chronic diseases. Dr. Elledge and his team are applying their VirScan technology to samples from patients with chronic diseases in the Mass General Brigham Biobank to identify specific viruses associated with each disease. VirScan is a high-throughput assay that can detect antiviral antibodies, and thus prior viral infection, for all known human viruses. Using a large number of samples from the Biobank will help uncover any subsets of patients whose diseases are virus-associated. Identifying the specific virus will provide insight into disease mechanism as well as inform development of diagnostics and therapeutics.

Geoffrey A. Walford, MD and Jose C. Florez, MD, PhD, Diabetes Unit at Massachusetts General Hospital

Type 2 diabetes is a disease that is influenced by genetics and by other factors. Some genetic risk factors for type 2 diabetes may change the way our bodies respond to diet, increasing the likelihood of developing diabetes, or the way our bodies respond to metformin, a medication that treats type 2 diabetes and can prevent type 2 diabetes.  This study is examining how commonly occurring genetic risk factors for type 2 diabetes influence the response to a specially prepared breakfast, known as a mixed meal tolerance test. All individuals in the study are provided the mixed meal tolerance test before and after taking 5 days of metformin. We have used the Biobank to identify and recruit individuals with a specific genetic risk factor for type 2 diabetes (variation at SLC16A11), but all individuals who qualify are welcome to participate in this study, entitled A study to understand the influence of common genetic variation at SLC16A11 and other genes on the physiologic response to a mixed meal tolerance test (SIGMA2 MGH).

Sagar Nigwekar, MD, MMSc, Division of Nephrology at Massachusetts General Hospital

Sagar Nigwekar, MD, is utilizing the Mass General Brigham Biobank to study a devastating disease called calciphylaxis. Calciphylaxis is caused by a buildup of calcium in the blood vessels that supply the skin tissue. This results in the formation of purple or black lesions of dying skin tissue which become life threatening when infected. Working in collaboration with Dr. Nigwekar, the Mass General Brigham Biobank has become the world’s largest repository of blood samples for this rare condition.  Because of the rarity of the disease and the fact that so little is understood about the underlying causes of the disease, pharmaceutical companies have been reluctant to devote resources to it. However at MGH, promising preliminary analysis of the blood samples has led to a randomized clinical trial which started in January 2015.

Seoyoung C. Kim, MD, ScD, Division of Rheumatology, Immunology and Allergy at Brigham and Women's Hospital and Daniel H. Solomon, M.D., M.P.H., Division of Rheumatology, Immunology and Allergy at Brigham and Women's Hospital

Gout or gouty arthritis is a common inflammatory arthritis caused by high uric acid levels. Recent evidence has shown that high levels of uric acid may also be associated with other health risks, especially increased risk of cardiovascular disease and type 2 diabetes. Dr. Kim and Dr. Solomon are using Biobank samples and enrolling eligible Biobank patients in a study that investigates associations between high levels of uric acid and systemic inflammation, high blood sugar, impaired kidney function, and cardiovascular disease.

Jessica Savage, MD, MHS, Brigham and Women’s Hospital

Milk allergy is the most common food allergy among young children. Biomarkers, or proteins on cells in the blood, may play a role in children and adults’ ability to tolerate milk. Dr. Savage and her team are working with the Mass General Brigham Biobank to enroll patients in an observational milk allergy research study that they hope will help them understand the molecular and genetic pathways involved in food allergy, and the impact of environmental exposures on food allergy. Previous research in this area was limited by an inability to characterize patients’ milk tolerance in a precise way. By using an oral food challenge where patients will ingest safe quantities of cooked and/or uncooked milk products and following these patients over time, Dr. Savage hopes to make progress in this area. 

Avignat, Patel, MD, Division of Pulmonary and Critical Care at Brigham and Women’s Hospital

Idiopathic pulmonary fibrosis (IPF) is a chronic lung disorder with very poor prognosis and no known treatment. Early identification of the disease may allow a better understanding of its root causes and potential treatments. Dr. Patel and his team are looking for blood markers that would help identify people who are a risk of developing IPF. Current research is focused on comparing a panel of blood markers in the blood samples of people who have IPF and people who do not have IPF.  

Robert Green, MD, Division of Genetics at Brigham and Women’s Hospital and Christine E. Seidman, MD, Division of Cardiology at Brigham and Women's Hospital

The MedSeq Project will explore how patients and their physicians interpret information from a person’s entire genome to use it in clinical care. Every cell in a person’s body contains instructions, called DNA, which tell the body how to grow, develop and function. The entire set of instructions is called the genome. Recently, scientists have developed technology, called whole genome sequencing (or, “WGS”), which allows them to sequence or “read” most of the genes in a person’s DNA. Right now, WGS is not used very often because it’s expensive and we don’t always know how to use all of the information. However, as WGS becomes less expensive and easier to understand, it will become more widely used. It is important to understand how patients and their physicians interpret and use the information from WGS before it becomes a common test. Patients enrolled in MedSeq will be invited to co-enroll in the Mass General Brigham Biobank in order to this valuable information with other researchers to facilitate medical discoveries.

Ashwin Ananthakrishnan, MD, Division of Gastroenterology at Massachusetts General Hospital

Cardiovascular disease is a leading cause of death and disability and inflammation has been shown to lead to the disease.  Dr. Ananthakrishnan and his team are using the Mass General Brigham Biobank samples to provide insight into mechanisms that may play a role in the high rate of cardiovascular disease in patients experiencing Inflammatory Bowel Disease (IBD). Using a large number of samples from the Biobank will help to uncover the genetic links between inflammation in IBD patients and subsequent cardiovascular disease.

Joseph Schwab, MD, MS Department of Orthopedics at Massachusetts General Hospital and Christopher Bono, MD, Department of Orthopedics at Brigham and Women's Hospital

The goal of the SNP study is to understand the relationship between genes and pain tolerance in patients with spinal disk herniation. A spinal disk herniation (a slipped disk) results from a tear in the ring surrounding a spinal disk causing the central portion of the disk to bulge out.  This protrusion pressing on the nerve root causes both inflammation and pain. Treatments for this condition include oral painkillers, spinal steroid injections physical therapy or surgery.  Research has shown that the pain from a herniated disk improves over time whether a patient elects to have surgery or not.  Therefore the primary reason patients choose surgery is to ease the pain that they cannot tolerate. Genes may play a role in difference in pain tolerance among patients. The SNP study researchers look at small differences in DNA that may cause differences in pain tolerance for patients suffering spinal disk hernias. The Mass General Brigham Biobank is collaborating with this study by processing and storing samples taken from patients with disk hernias that will later undergo genetic testing.  The hope is that by finding genes which are associated with pain tolerance, doctors could identify patients at high risk and help them make better informed decisions for treatment. 

Michael Brenner, MD, PhD, Division of Rheumatology, Immunology and Allergy at Brigham and Women's Hospital

The BWH Human Immunology Center is investigating changes in the immune system that occur in rheumatic diseases such as rheumatoid arthritis, lupus, and giant cell arteritis in a project called PROSET-HD (Profiling of Cell Subsets in Human Disease). This study, lead by Dr. Michael Brenner and Dr. Deepak Rao, Fellow in Rheumatology, compares immune cells in the blood from patients with and without inflammatory disease. The goal is to discover new ways to identify and monitor disease and new possibilities of the treatments for autoimmune diseases. The Mass General Brigham Biobank is collaborating with the Human Immunology Center to provide recruitment support and related health to health information, which are essential to the project’s success. The blood samples and health information related to samples that patients provide to the Human Immunology Center and the Mass General Brigham Biobank will help researchers understand the changes in the immune system that cause autoimmune disease.

Wayne Shreffler, MD, PhD, Pediatric Allergy & Immunology at Massachusetts General Hospital

The purpose of this study is to identify immune factors associated with allergic reactions to foods in order to better predict the likelihood and severity of hypersensitivity reactions. Current allergy testing is not very specific and does not offer clear information about which patients are at higher risk of having severe allergic reactions. These limitations are known to contribute to over-diagnosis and may contribute to unnecessarily restrictive diets, and overtreatment. Storing these samples in the Biobank will allow researchers to effectively investigate genetic factors that contribute to the presentations of severe allergic reactions in some patients with food hypersensitivities.

Sonia Friedman, MD and Joshua R Korzenik, MD, Division of Gastroenterology at Brigham and Women's Hospital

Inflammatory Bowel Disease (IBD) constitutes a significant health problem in the United States. Roughly 5 in 1,000 patients suffer from Crohn’s disease and Ulcerative colitis. Many patients with IBD require powerful medications and life changing surgeries to manage unpredictable flare-ups of their disease. The BrITR study is collaborating with the Mass General Brigham Biobank to establish a registry of patients with inflammatory bowel disease to be used for future research. The goal of the BrITR study is to determine how genes and other factors contribute to IBD.  The biobanking resources that the Mass General Brigham Biobank offers are integral to BrITR’s success.

Joseph F. Merola, MD, MMSC, Department of Dermatology at Brigham and Women's Hospital

An autoimmune disorder is a condition that occurs when the immune system mistakenly attacks and destroys healthy body tissue. Many of these diseases, such as lupus and scleroderma, occur in the skin as well as internal organs.  The Skin Disease Tissue Repository is collaborating with the Mass General Brigham Biobank to learn more about the risk factors and defects in the immune system that cause autoimmune diseases.  Researchers will analyze white blood cells from the skin and blood of patients with autoimmune diseases to identify factors that may increase the risk of developing disorders like lupus and scleroderma.

Stanley Shaw, MD, PhD, Center for Systems Biology and Cardiology Division at Massachusetts General Hospital

Clinical information stored in a patient’s electronic health record (EHR) can become a tool to help researchers identify associations between a person’s health characteristics when studied using their genetic information as well.  In this project investigators have identified a group of Mass General Brigham Biobank patient samples using the data found in the EHR that will allow them to study the association between diabetes, cardiovascular disease, obesity and inflammatory markers.  Understanding the relationship between diabetes and inflammation might help us discover common pathways shared between diabetes and its complications, as well as with other auto-inflammatory diseases. 

Rose Du, MD, PhD, Department of Neurosurgery at Brigham and Women’s Hospital

A cerebral aneurism is a weak or thin spot on a blood vessel that balloons out and fills with blood and causes swelling. This swelling can press on a nerve or surrounding tissue, leak or burst, which lets blood spill into the surrounding tissues (hemorrhage). The formation of aneurysms is influenced by both genetic and environmental factors. The purpose of the GXCA project is to determine the genetic changes and biological reasons that predict the formation and growth of aneurysms. Results obtained from this study, in collaboration with Mass General Brigham Biobank may generate new strategies to effectively diagnose, prevent, and treat aneurysm formation and rupture.

Elizabeth Karlson, MD, Division of Rheumatology, Immunology, and Allergy at Brigham and Women’s Hospital

Non-steroidal anti-inflammatory drugs, or “NSAIDs” are a class of drugs that are commonly used to treat pain, reduce fevers, and reduce inflammation. Despite the therapeutic benefits NSAIDs offer, some patients have adverse reactions to this class of medications. Most notably, some patients who take NSAIDs may be at increased risk for cardiovascular events like a heart attacks and strokes. Dr. Elizabeth Karlson is leading a team of researchers to develop ways of predicting who is at risk for NSAID related cardiovascular events. Dr. Karlson and her team are using data and samples from the Mass General Brigham Biobank to define clinical and genetic factors related to adverse events associated with NSAID use.

Katherine P. Liao, MD, MPH, Division of Rheumatology, Immunology, and Allergy at Brigham and Women’s Hospital

Coronary artery disease (CAD) is a leading cause of morbidity and mortality for patients with rheumatoid arthritis (RA).  A major reason why RA patients are at increased risk of CAD is from chronic inflammation, a hallmark of RA.  However the mechanism of how inflammation leads to increased CAD risk is not clear and is the focus of this study.  The Mass General Brigham Biobank provided blood samples and health information that will help investigators to understand the association between RA and CAD.

I-Cheng Ho, MD, PhD and Hui-Hsin Chang, PhD Division of Rheumatology, Immunology, and Allergy at Brigham and Women’s Hospital

Rheumatoid arthritis (RA) is an autoimmune disease that causes painful inflammation of the joints when the immune system attacks the body’s own cells. Dr. Ho’s lab used samples from the Mass General Brigham Biobank to study how one gene (the PTPN22 gene) may contribute to the development of RA. Dr. Ho's group discovered that abnormal function of PTPN22 causes normal proteins to be modified in a way that causes the immune system to attack them. Understanding how this gene functions is a first step towards developing targeted treatments for patients with the gene. 

Rulla Tamimi, MSc, ScD, Department of Medicine at Brigham and Women’s Hospital and Erica Warner, MPH, ScD, Clinical and Translational Epidemiology Unit at Massachusetts General Hospital

Drs. Tamimi and Warner are building a resource for studies that are looking at the biomarkers of breast cancer, drawing on women screened at the Brigham and Women’s Hospital (BWH) and Massachusetts General Hospital MGH). The purpose of the Boston Mammography Cohort is to study the predictors of breast cancer risk, including genetic and environmental risk predictors. Drs. Tamimi and Warner have leveraged samples, survey data and genomic data from the Mass General Brigham Biobank, as well as data from the Electronic Medical Record (including mammogram images) at Mass General Brigham, to create a pool of ethnically diverse women undergoing routine mammography at MGH or BWH.  These women will be invited to enroll in the Boston Mammography Cohort Study.