Biobanks play a pivotal role in modern healthcare. Biobanks are a warehouse of invaluable biological and genetic information that drive medical research, innovation, and personalized patient care. The Penn Medicine BioBank (PMBB) is a resource that collects and combines various health-related data, including medical records, genetic information, and lifestyle details from surveys, to aid in scientific studies and medical advancements. The PMBB is also part of a global initiative, the Global Biobank Meta-Analysis Initiative that merges genetic data from 23 biobanks worldwide, enhancing our understanding of disease and promoting drug discovery. Researchers and clinicians have developed tools to integrate genetic data and clinical data for precision medicine.
These tools have allowed researchers to:
To learn more about scientific advancements our researchers have made thanks to your contribution to the PMBB, explore some of our top research below.
The SARS-CoV-2 virus, which causes the disease COVID-19 is a new coronavirus, but it’s not the first coronavirus that humans have encountered. Roughly 1 in 5 people have been exposed to other human coronaviruses before. At the Penn Medicine BioBank, we have samples from participants who have been infected with the SARS-CoV-2 virus one or more times, and samples from participants who have never had COVID-19. Some of the samples are from participants before they received the COVID-19 vaccinations, while others are from after receiving the vaccines. Researchers can compare these different types of samples to better understand how COVID-19 infections affect us. Surveys that our participants have completed about their experiences with COVID-19 have also played a key role in helping us understand this disease. If you’re one of the 10,000+ participants who have completed our COVID-19 surveys, we thank you for your time and dedication.
The COVID-19 vaccines teach our bodies how to respond to a real COVID-19 infection. Researchers have found that getting a COVID-19 infection after being vaccinated for COVID-19 triggers a strong and powerful immune response. The immune system of people who were infected with the Omicron variant of the virus after they had been vaccinated “remembered” what to do during a COVID-19 infection. In vaccinated individuals, immune cells called B cells, which make antibodies, and T cells, which kill infected cells, activated to neutralize the virus. This means that vaccines help generate a strong immune response to future COVID-19 infections, and protects us from getting too sick.
Ever wonder why one person gets very sick from COVID-19, while someone else has no symptoms at all? Part of the answer may lie in our genes. The Penn Medicine BioBank was part of the COVID-19 Host Genetics Initiative, a global network of researchers looking at how our genes affect COVID-19 infection. Through this initiative, researchers found that having changes in certain genes can make you more likely to get COVID-19, or more likely to feel very sick if you do get COVID-19. Some of the gene changes affect how the SARS-CoV-2 virus gets into our cells, while others affect how our immune systems respond. Some of the gene changes are more common in certain groups of people, which might explain why some people get sicker than others.
There are certain viruses that can infect us and live in our bodies for the rest of our lives without us even knowing! These viruses generally don’t cause any problems in healthy individuals, and “sleep” in our bodies. One such virus, called the Cytomegalovirus (CMV), can make us more likely to end up in the hospital with severe COVID-19. This could be because the CMV virus changes how our immune system responds to the SARS-CoV-2 virus.
The Penn Medicine BioBank (PMBB) has both healthy participants, and participants with a wide range of diseases and conditions. Scientists can study the genes of healthy participants and compare it with the genes of participants who have certain diseases or conditions to better understand how genes influence different health outcomes, like cardiovascular health, or heart health. Scientists study changes in genes, called genetic variants, which can influence health outcomes.
Diet and exercise are not the only things that affect heart health. Scientists have found changes in genes associated with heart diseases such as: cardiac sarcoidosis, aortic stenosis, calcific aortic stenosis, coronary artery disease, aortic engagement, hypertrophic cardiomyopathy, abdominal aortic aneurysm, heart failure, and atrial fibrillation. Some genetic variants, such as genetic variation in the gene TTR, are linked to heart failure among individuals of African or Hispanic/Latino ancestry. There are new treatment options available for individuals with the TTR variant, and this study allowed our scientists to contact doctors who may have patients with the TTR variant, and enable them to receive life-saving treatments. These studies collectively reveal how our genes impact heart diseases, and could pave the way for new methods of diagnosis, prevention, and treatment.
Wish you could predict how likely you are to get heart disease? Researchers have developed risk scores, called polygenic risk score (PRS), to predict our risk of developing different types of heart disease based on our genes. One score, HF-PRS, helps identify coronary artery disease (CAD) patients at higher risk of heart failure. Another score predicts the risk of death, even in individuals without visible CAD. Incorporating these risk scores into prevention strategies for heart disease could make these strategies more effective, and enable targeted monitoring and treatment.
Our height and weight could affect our heart function. Researchers have found that being taller could increase the risk of atrial fibrillation (an irregular heartbeat). Another study connected higher birthweight with a greater risk of atrial fibrillation. Genetic differences in how our bodies handle fat can also impact the risk of heart disease. One study looked at a protein called apoA-V and discovered that a specific variant led to higher levels of triglycerides (TGs) in the blood. While TGs are the most common form of fat in our bodies, high levels of TGs can increase one’s risk for heart disease. Another study found that people with certain genetic variations in the gene ANGPTL3 had lower levels of bad cholesterol (LDL) and TGs, and a lower risk of heart disease. This study also revealed that evinacumab, a medication that targets this gene, lowered fat levels in humans and reduced heart disease risk in mice.
Diabetes is a disease that affects how the body uses blood sugar. Blood sugar is an important source of energy for our bodies. There are two types of diabetes: Type 1 and Type 2. Type 1 diabetes happens when our body can’t make insulin, a special hormone that helps our body use sugar. Type 2 diabetes occurs when the body doesn’t use insulin properly. Diabetes is a common disease across the world, and many of the participants in the Penn Medicine BioBank (PMBB) have diabetes. Scientists can study the genes and health of participants with diabetes and participants without diabetes. This can help scientists identify changes in genes, called genetic variants, that affect diabetes. Scientists have used data from PMBB participants and discovered thousands of genetic variants related to diabetes.
Researchers found shared genetic links between type II diabetes (T2D) and coronary heart disease (CHD). Researchers have used this connection between T2D and CHD to predict heart problems in T2D patients. Another study found connections between diabetes and vascular issues. Understanding these genes can help improve how we take care of diabetes all over the world.
Genetic differences in how our body handles and distributes fat may contribute to our likelihood for developing diabetes. In one study, researchers looked at genes and body fat in over 618,000 people and found 16 genes that affect how fat is spread throughout the body. Mutations in certain genes can lead to changes in fat distribution and fat levels, leading to a lower risk of heart disease and type 2 diabetes. These studies suggest that if we can "turn off" these genes, it may lessen the chances of getting diabetes.
The liver is an essential organ in the body with many functions. It removes toxins from our body, and processes food and medications. Liver disease refers to a range of conditions that affect this organ. Researchers are continuing to find new ways to detect, treat, and manage liver diseases.
Our genetic makeup significantly influences the health and functioning of our liver. Certain genetic variations can lead to reduced liver enzyme levels. Variations in other genes decrease liver fat and lower the amount of “bad” cholesterol in the blood. These findings can help scientists develop better ways for healthcare providers to treat and manage liver diseases.
Statins are a class of medications that lower the amount of cholesterol in the blood. While these medications are typically used to prevent heart disease and stroke, statins are also valuable for liver health. One study looked at whether taking statin medications can lower the risk of liver disease, including liver cancer and liver-related deaths, in over 1.7 million people. They found that those who took statins had a lower risk of liver problems, especially if they took higher doses for a longer period of time. This benefit was more significant for men, people with diabetes, and those with certain genes.
Bioinformatics, the use of computer algorithms to analyze health data, is changing the way we detect and understand liver disease. In one study, researchers created an algorithm that digs into electronic health records to find undiagnosed fatty liver disease, a condition that results from the buildup of fat in the liver. This system could help doctors identify new cases. In another study, researchers combined genetic analysis with deep learning, a method in artificial intelligence where computers are taught to process data like humans. They used CT scans to measure liver fat in participants and uncovered certain genetic factors linked to fatty livers.
Effectively managing pregnancy complications is important for the short- and long-term health of the mother and child. Some women are more likely than others to experience health problems during pregnancy. One such complication, called preeclampsia happens when a woman develops high blood pressure during pregnancy. Women with a high genetic risk for high blood pressure during pregnancy may be more likely to develop heart and vascular diseases. Genes that are associated with preeclampsia affect processes like blood pressure control, blood vessel formation, and immune function. Many of the genes linked to blood pressure control in the general population contribute to a woman's likelihood for developing preeclampsia.
Some genes have the power to influence multiple health conditions. In one study, scientists explored the connection between cardiometabolic diseases (like obesity, heart problems, and diabetes) and women's specific health concerns (such as breast cancer, uterine diseases, and pregnancy complications). Their research revealed that the same genes responsible for cardiometabolic health might also influence the development of certain women's health problems. However, more research is needed to consider clinical and environmental contributors.
In the United States, Black and Latinx women disproportionately experience negative health outcomes. For example, a study of pregnant women in Philadelphia during the early months of the COVID-19 pandemic showed that higher rates of Black/non-Hispanic and Hispanic/Latino women had been exposed to COVID-19. Black women also have much higher death rates due to breast cancer than White women. However, many research studies focus on individuals of European ancestry. The diverse participant population at the Penn Medicine BioBank helps researchers study different diseases in individuals from different ancestries. For example. one study looked into the connection between breast density and breast cancer amongst women of African ancestry. The researchers identified changes in genes that were associated with breast density. Many of these same changes were also associated with breast cancer. These findings are crucial for improving breast cancer risk assessment and care, especially for women of African ancestry.
Substance use disorder (SUD) is a mental health condition where a person has a hard time controlling their use of certain things, like drugs and alcohol. SUD can cause problems in daily life and can be life-threatening. It’s important to seek help and treatment for SUD. In the Penn Medicine BioBank (PMBB), tobacco use disorder is the most common SUD, followed by alcohol use disorder and opioid use disorder. This is the same trend of SUD as in the general population. Thus, SUD researchers at Penn can use the PMBB population as a proxy for the general population to better understand how SUD occurs and how to treat it.
Do our genes influence our likelihood of developing substance-use disorders (SUDs)? Researchers have identified numerous genes associated with SUDs, including opioid use disorder (OUD), cannabis use disorder (CUD), alcohol use disorder (AUD), and tobacco use disorder (TUD). Using information about genetic factors associated with problematic alcohol use (PAU), researchers have identified existing medications that could potentially be repurposed for PAU treatment. Another studied discovered genes connected to Tobacco Use Disorder (TUD).
Cancer is a disease that happens when some cells in the body grow uncontrollably and spread to other parts of the body. These cells can form lumps of tissue, called tumors. Cancer varies in severity and can affect many organs throughout the body. Genes play a considerable role in our likelihood of developing cancer. Research in the field of cancer genetics is not only improving our understanding of these genetic factors, but is spearheading the discovery of better treatments.
Researchers have identified genes linked to various cancers. In one study, researchers found that a specific genetic mutation increased one’s risk of testicular germ cell tumors (TGCTs). This cancer weakens sperm production in the testes. Some genetic variants influence TGCTs, while others do not. In another study, researchers focused on neuroblastoma, a cancer that primarily affects the adrenal glands of children. They found that a certain genetic variant worsened the survival of neuroblastoma patients. Together, these findings emphasize the importance of early genetic testing as this can guide counseling and follow-up care.
Cancer can significantly compromise the immune system, making individuals more susceptible to viruses and transmissible diseases. In one study, researchers discovered that cancer patients are at greater risk for severe COVID-19. Active cancer doubled the chances of hospitalization, and increased the chances of death. These findings stress the urgent need to protect cancer patients from infections.
With the ongoing advancements in bioinformatics, scientists are finding new ways to calculate an individual’s cancer risk based on their genetics. Polygenic risk scores (PRSs) use information from multiple genes to estimate the likelihood of developing a condition, like cancer. In one study, researchers found that PRSs had a modest improvement in predicting cancer risk in individuals of European genetic ancestry, but the improvement was smaller in individuals of African genetic ancestry. More research is needed to identify genetic factors specific to non-White populations for better cancer risk assessment using PRSs. Understanding these variations among different populations can improve the precision of cancer risk predictions.
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