Nancy J Cox

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This study looked at why older adults often have a reduced appetite, a condition known as anorexia of aging. Researchers found that older adults with low appetite have an abnormal response in gut hormones related to food intake; specifically, they have higher levels of hormones that suppress appetite. Understanding this issue is important because it could lead to better strategies for improving nutrition and health in older adults. Who this helps: This helps older adults and healthcare providers who work with them.

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This study looked at how to repurpose existing drugs to help treat type 2 diabetes by using genetic information. Researchers created a new method called GIN-DRIP, which helped them find that the blood pressure medication telmisartan could benefit people with type 2 diabetes. They confirmed this finding using health data from over 3 million patients, showing the potential effectiveness of telmisartan for managing the disease. Who this helps: This helps patients with type 2 diabetes.

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This study looked at how our genes affect the way we perceive speech rhythm, which is important for understanding language. Researchers analyzed data from 1,501 people and found 14 key genetic signals linked to prosody perception. These findings suggest that our ability to pick up on speech patterns is connected not just to language skills, but also to how we read and appreciate music, which may help improve communication and education methods. Who this helps: This benefits patients with speech or reading difficulties, educators, and speech therapists.

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This study focused on BCARD syndrome, a rare genetic disorder that affects connective tissues, causing problems with muscles, blood vessels, and senses. The researchers found that giving a supplement called succinate improved muscle and bone defects in a zebrafish model of the disease, showing significant restoration of certain gene functions involved in energy metabolism. This is important because it suggests a new treatment avenue for BCARD syndrome and potentially other related conditions that affect connective tissues. Who this helps: Patients with BCARD syndrome and similar connective tissue disorders may benefit from this research.

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This study looked at the genetic factors linked to five thyroid diseases, including thyroid cancer and benign nodular goiter, by analyzing data from about 2.9 million genomes across 19 different biobanks. The researchers identified 883 genetic locations connected to these diseases, including 570 new ones, and found that certain genes were related to the risk of both benign and cancerous thyroid conditions. This research helps improve understanding of who might be at higher risk for aggressive thyroid cancer, allowing for better screening and management of patients. Who this helps: This helps patients at risk for thyroid diseases and their doctors by informing more personalized screening strategies.

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This study looked at how our genes relate to both language skills and musical rhythm. Researchers analyzed data from over 600,000 people and found 16 specific genetic areas that are linked to both rhythm difficulties and dyslexia. This discovery reveals a deeper connection between language and music in our biology, which may help us understand how these abilities evolved together. Who this helps: This findings benefit researchers studying language and music, as well as individuals with dyslexia and rhythm-related challenges.

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This study focused on a common genetic change called mosaic loss of Y (mLOY), which affects many men and is linked to changes in blood cells and an increased risk for diseases like Alzheimer's and some cancers. Researchers analyzed the DNA of diverse male participants and found that mLOY is more frequent in men of European ancestry compared to other groups, with certain genetic variants making some individuals more prone to this loss. Understanding mLOY helps us identify at-risk populations and may improve early detection and treatment of age-related diseases. Who this helps: This benefits patients at risk for age-related diseases, particularly older men.

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This study looked at how different eye diseases might share common genetic causes. Researchers found that by analyzing health records and genetic data, they could identify a score (called the phenotypic risk score) that predicts a person's risk of eye diseases based on genetic and health information; this approach revealed important genetic links across various eye conditions. Understanding these connections helps improve disease prediction and treatment. Who this helps: This research benefits patients, particularly those at risk for multiple eye diseases.

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Researchers gathered to discuss how well family-based genetic studies could help identify genes linked to substance use disorders (SUD) and related mental health issues. They found that existing family studies have already been successful in uncovering important genetic information, which could lead to better prevention and treatment options. The panel agreed that combining data from both family studies and larger databases would be the best way to discover more genetic variants that contribute to these disorders. Who this helps: This helps patients struggling with substance use and mental health disorders, as well as their healthcare providers.

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This study looked at how well a genetic test called a polygenic risk score (PRS) can predict who is at higher risk for developing type 2 diabetes (T2D) in different groups of people. Researchers analyzed data from over 882,000 individuals and found that the PRS works better for younger males with a family history of diabetes, and who are not overweight or dealing with high blood pressure. These results matter because they show that the PRS can help identify not just who is at risk of diabetes, but also who might develop serious complications related to it, emphasizing the importance of considering individual backgrounds when using this tool. Who this helps: This helps patients and doctors by providing a more personalized approach to diabetes risk assessment.

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This study looked at the genetics of heart disease and stroke in people with chronic kidney disease (CKD), which puts them at higher risk for these conditions. Out of 3,588 participants, 1,203 had coronary heart disease, and 535 had strokes. The researchers found six genetic markers linked to strokes and two linked to heart disease, but these findings did not hold up when tested in additional groups. Understanding these genetic differences matters because it could lead to more tailored treatments for CKD patients. Who this helps: This helps patients with chronic kidney disease.

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This study examined the genetic factors behind severe obesity, focusing on Mexican Americans. Researchers found 124 genes linked to severe obesity, with 33% confirming in another group, highlighting particular genes like IL4R and LILRA5 that play a role in inflammation related to obesity. Understanding these genetic drivers is important because it helps identify risks associated with obesity and could lead to better prevention and treatment strategies. Who this helps: This benefits patients struggling with severe obesity and healthcare providers working to manage their conditions.

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This study looked at how reducing the number of medications (called deprescribing) affects older adults with sarcopenia, which is the loss of muscle strength and quality. Out of nearly 5,000 articles examined, only six studies were included, showing no significant changes in muscle mass but some improvements in handgrip strength and balance after stopping certain medications like antihypertensives. Understanding how to safely reduce medications may help older patients improve their strength and overall physical condition, making it easier for them to stay active and healthy. Who this helps: This benefits older patients dealing with sarcopenia and their healthcare providers.

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This study looked at how to more accurately identify individuals with multiple congenital anomalies (MCAs), which are two or more unrelated birth defects affecting about 3% of all babies. Researchers created a new system that was 97.1% accurate in spotting these cases in electronic health records, helping to reveal important health patterns and connections that could inform patient care. This is significant because understanding MCAs better can lead to improved treatments and outcomes for affected individuals. Who this helps: This helps patients with congenital anomalies and their healthcare providers.

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This study explored how to find new uses for existing medications by focusing on the genetics of type 2 diabetes (T2D). Researchers developed a new method called GIN-DRIP, which successfully identified three FDA-approved drugs that might help treat T2D, including telmisartan. They found that people who took telmisartan had a significantly lower chance of developing T2D compared to those who took other similar drugs or didn't take any, suggesting that telmisartan could be helpful in diabetes management. Who this helps: This benefits patients with type 2 diabetes and healthcare providers looking for effective treatments.

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This study looked at electronic health records from 153 million people to find health conditions that may lead to Alzheimer's disease (AD). Researchers discovered 406 medical conditions in one database and 102 in another that are more common among people who develop AD, including mental health issues like depression and neurological disorders like sleep disorders. Understanding these links is important because it could help doctors find ways to prevent or reduce the risk of Alzheimer’s disease in certain patients. Who this helps: This benefits patients at risk for Alzheimer's, their families, and healthcare providers.

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This study focused on improving how we predict the risk of developing childhood asthma by using a new method called endoPRS, which incorporates genetic information about related traits. The researchers found that endoPRS makes more accurate predictions than previous methods, increasing the prediction accuracy significantly. For instance, it outperformed other models and suggests better outcomes when applied in real-life clinical situations, meaning it could help identify at-risk children more effectively. Who this helps: Patients, especially children at risk for asthma.

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This study looked at how the genetics of certain biomarkers, specifically cystatin C and creatinine, affects kidney function measurements. The researchers found that using a specific genetic score related to kidney function improved the accuracy of estimating a key measure called eGFR by 60% compared to using other methods. This matters because more accurate eGFR readings can lead to better diagnosis and treatment of kidney-related issues. Who this helps: Patients with kidney disease and healthcare providers managing their care.

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This study looked at how a specific gene variant called PTPN2 might be linked to a drop in white blood cell counts, known as leukopenia, in patients taking the medication azathioprine. In a group of 1,184 patients, 125 developed leukopenia, and researchers found that a common variant in the PTPN2 gene significantly increased the risk of this side effect—by over three times in one group and more than double in another group. Understanding this link is important because it can help doctors predict which patients are more likely to experience dangerous side effects from azathioprine, allowing for better treatment planning. Who this helps: Patients taking azathioprine and their doctors.

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This study looked at the genetics behind thyroid diseases, including thyroid cancer and benign thyroid conditions, by analyzing nearly 2.9 million genomes from various biobanks. Researchers found 235 known and 501 new genetic variants connected to these diseases and revealed that certain genes related to cell growth and repair play significant roles in thyroid cancer risk. This is important because it helps improve our understanding of who might be at higher risk for thyroid issues, paving the way for better diagnosis and treatment options. Who this helps: Patients with thyroid diseases and their doctors.

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This study investigated the genetic links between a positive antinuclear antibody (ANA) test and systemic lupus erythematosus (SLE) in people who don’t have autoimmune diseases. Researchers analyzed data from 7,287 individuals and found that while a specific genetic variant was associated with having a positive ANA test, the overall genetics behind ANA positivity is weak. Importantly, the genetic risk for SLE was significantly higher in people with SLE compared to those with a positive ANA test, showing that these two conditions are largely genetically distinct. Who this helps: This research helps doctors understand the genetic factors behind ANA tests in patients without autoimmune diseases.

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This study focused on understanding the genetic causes of hidradenitis suppurativa (HS), a painful skin condition. The researchers looked at data from over 4,500 HS patients and found 11 important genetic signals linked to HS, some of which relate to other diseases like inflammatory bowel disease and asthma. Identifying these genetic markers helps researchers explore new treatments for HS, which can be debilitating for those who have it. Who this helps: Patients with hidradenitis suppurativa and their doctors.

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This study focused on finding out which genes might be linked to pancreatitis in patients using azathioprine, a medication for inflammatory and autoimmune diseases. Researchers looked at data from 2,101 patients, including 16 who had pancreatitis, and identified two genetic factors associated with pancreatic injury: a specific gene change in RAB19 and the expression of another gene called SERPINB9P1. Understanding these genetic links is important because it can help healthcare providers predict and manage the risks of pancreatitis in patients treated with azathioprine. Who this helps: Patients taking azathioprine and their doctors.

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This study explored the genetic factors linked to schizophrenia and found that certain genetic variations, known as sub-threshold loci, significantly contribute to the disorder. Researchers identified 304 high-confidence risk genes and discovered that two specific genes, CUL7 and DCC, are involved in the development of dendrites, which are crucial for nerve cell communication. When these genes were overactive, it led to shorter nerve projections, highlighting how these genetic factors may disrupt brain function in those at risk for schizophrenia. Who this helps: This research benefits patients with schizophrenia by improving understanding of the genetic causes behind the disease.

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This study developed a new method called HAUDI for calculating polygenic scores, which are tools that help predict the risk of diseases based on an individual's genetics. The researchers found that HAUDI is faster and more effective than a previous method (GAUDI), especially when applied to 18 different health conditions, such as triglycerides and chronic kidney disease. This matters because it allows for more accurate health risk assessments for individuals from diverse ancestry backgrounds. Who this helps: This benefits patients from mixed ancestry backgrounds who need personalized healthcare strategies.

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This study looked at how genetics affect the side effects caused by the chemotherapy drug cisplatin in survivors of testicular cancer. The researchers found that survivors with African ancestry were much more likely to experience neuropathy (nerve damage) and vertigo compared to those of European and Asian ancestry, with the likelihood of neuropathy being significantly higher for African ancestry patients. Understanding these genetic differences is important because it can help tailor treatment and support for cancer survivors based on their ancestry, potentially improving their quality of life after treatment. Who this helps: This helps cancer survivors, especially those of African ancestry, by providing insights into managing and preventing side effects from chemotherapy.

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This study looked at new medications that lower triglyceride levels, a type of fat in the blood, and how they might impact heart health. Researchers found that in a large group of people of European descent, 9 out of 10 genetic markers linked to triglyceride levels also showed significant ties to cholesterol and heart health. However, in people of African descent, only 1 out of 6 genetic markers showed any meaningful connections, suggesting these medications may not work as effectively for this group. Who this helps: This research assists doctors in understanding how to better target triglyceride-lowering treatments for different patient groups.

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This study looked at a genetic test called a polygenic risk score, which helps predict who might be at higher risk for developing type 2 diabetes. Researchers analyzed data from over 882,000 people and found that the score works best for younger males without high blood pressure or extra weight. This matters because it can help doctors better identify patients at risk for diabetes complications and tailor prevention strategies based on individual characteristics. Who this helps: This helps patients at risk for type 2 diabetes and their doctors in managing their health better.

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This study looked at genes linked to craniofacial anomalies, which are birth defects affecting the face and skull. The researchers found that only about 3% of known genes connected to these anomalies were associated with them in their data, while many more genes were linked to other birth defects. They discovered 53 new genes not previously linked to craniofacial anomalies, showing that both common and rare genetic changes play a role in these defects. Who this helps: This helps patients with craniofacial anomalies and their doctors by improving understanding of genetic causes and potential diagnosis.

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This study looked at how antidepressants affect white blood cell (WBC) counts in people who have both depression and coronary artery disease (CAD). Researchers found that individuals with both conditions had higher WBC counts than those with only depression but lower than those with only CAD. Notably, starting statins or antidepressants lowered WBC counts, and taking antidepressants after statins led to even lower counts, showing a clear link between these treatments and immune response. Who this helps: This benefits patients dealing with depression and heart disease, as well as their doctors managing their treatment.

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This study examined how changes in metabolic health, like obesity and diabetes, affect the risk of developing coronary artery disease (CAD) in a group of over 69,000 patients. The researchers found that about 38% of people who started without any metabolic issues developed at least one problem within three years, and the risk of having CAD significantly increased for those with higher body weights or multiple metabolic issues. These findings highlight the urgent need for proactive measures to prevent metabolic dysfunction, which can lead to heart disease. Who this helps: Patients at risk for heart disease, particularly those struggling with weight and metabolic health issues.

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This study looked at how common genetic variations can impact the severity and symptoms of a rare genetic disorder known as BCARD syndrome. The researchers found that changes in a specific gene's expression were linked not only to the typical symptoms of BCARD syndrome but also to new symptoms that weren't previously associated with it, using advanced genetic analysis methods. This is important because it could pave the way for better understanding of the disease and aid in finding new treatments. Who this helps: Patients with BCARD syndrome and their healthcare providers.

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This study looks at how losing appetite can lead to undernutrition in older adults, which can harm their health and independence. It highlights that appetite loss is common in aging and often predicts undernutrition, so if it's identified and addressed early, it could help seniors maintain their health and independence. The researchers found that current treatments for appetite decline, like dietary changes, physical activity, and some medications, have inconsistent results, and more focus on improving appetite could boost their effectiveness. Who this helps: This research benefits older patients and healthcare providers focusing on senior nutrition and care.

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This study looked at electronic health records from 153 million people to find out which health conditions are linked to developing Alzheimer's disease (AD) later on. They found that 406 health conditions are more common in those who later get AD, particularly mental and neurological disorders like depression and sleep disorders. Understanding these links can lead to better prevention strategies and treatments for Alzheimer's. Who this helps: This helps patients and healthcare providers by identifying health conditions that could lead to Alzheimer's, enabling earlier intervention.

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This study looked at genetic factors behind craniofacial anomalies, which are birth defects affecting the face and skull. Researchers analyzed data from health records and found that only about 3% to 4.6% of known genes related to these anomalies were actually linked to them, while many identified genes (53 in total) had not previously been associated with craniofacial issues. This matters because it can help improve diagnosis and understanding of these conditions, possibly impacting a significant number of patients who experience related health problems. Who this helps: Patients with craniofacial anomalies and their families.

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This study focused on improving how we predict genetic risks for health conditions in people with mixed ancestry. The researchers developed a new method called GAUDI, which better accounts for the different ancestral backgrounds of these individuals. They found that GAUDI improved the accuracy of predicting white blood cell count and C-reactive protein levels in African Americans by more than 64% compared to other methods, making it a significant advancement. Who this helps: This benefits patients with mixed ancestry, particularly those in the African American community.

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This study looked at primary open-angle glaucoma (POAG), a major cause of blindness, by analyzing data from over 1.4 million people across different ancestries. Researchers discovered 17 new genetic locations related to POAG, with five specific to certain ancestries, and found that some risk factors for the disease may vary based on ancestry or sex. Understanding these genetic links helps target prevention and treatment strategies for different groups of people. Who this helps: This benefits patients at risk for glaucoma and doctors treating them.

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This paper looks at how many older people in hospitals experience loss of appetite, a condition known as anorexia of aging, which affects up to 60% of them. The study finds that when older patients don’t eat well, they can face serious health issues like malnutrition, muscle loss, and even a higher risk of dying. This understanding is crucial because it highlights the need for better assessments and treatments for older patients to improve their health outcomes in hospitals. Who this helps: This helps patients and healthcare providers in hospitals.

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This study looked at the genetic factors related to high triglyceride levels in patients of African ancestry (AA). It found that those with mild-to-moderate high triglycerides were nearly twice as likely to carry a specific genetic variant compared to those with normal levels, and those with severe high triglycerides were over three times as likely. This research is important because it helps in understanding the unique genetic risks in African ancestry populations, which can lead to better-targeted treatments and health management. Who this helps: This benefits patients of African ancestry who have high triglyceride levels.

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Researchers studied tobacco use disorder (TUD) by examining genetic data from nearly 1.6 million people across various ancestry groups. They found 461 potential risk genes linked to TUD, along with 88 genetic locations associated with it. These findings show strong connections between TUD and other health issues, such as heart disease and HIV infection, which helps us understand the biological factors behind smoking addiction. Who this helps: This benefits patients struggling with tobacco addiction and healthcare providers working to support them.

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This study looked at how genetics influence white blood cell (WBC) counts in almost 90,000 patients and what that means for their health. Researchers found that people with a genetic tendency for lower WBC counts were less likely to have serious issues identified during bone marrow tests but were at a higher risk of low WBC counts when receiving chemotherapy or immunosuppressant drugs. These results highlight that certain individuals may experience negative health impacts due to their genetic predispositions, potentially leading to unnecessary changes in their treatment. Who this helps: This helps patients undergoing chemotherapy or immunosuppressant therapy.

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Researchers studied how diversity in genetics research affects health equity, which is important for ensuring everyone has the same opportunities for good health. They found that current genetics research does not include a wide range of populations, leading to unfair health outcomes and the potential for poorer medical care for underrepresented groups. This matters because improving diversity in research can lead to better health solutions for everyone. Who this helps: This helps patients from diverse backgrounds and healthcare providers looking to improve health outcomes.

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This study looked at how certain genetic changes in blood stem cells, known as mosaic chromosomal alterations (mCAs), affect how quickly these cells can grow and multiply in the body. Researchers analyzed data from 6,381 people and found that the rate of clonal expansion was related to specific gene mutations, particularly those affecting the JAK2 gene, and identified a genetic variant that could influence this rate. Understanding these factors is important because it could lead to better insights on blood disorders and how they develop over time. Who this helps: This helps patients with blood-related conditions and their doctors.

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This study looked at the genetic factors behind high triglyceride levels in U.S. patients of African ancestry, focusing on how these factors differ from those studied in people of European ancestry. Researchers found that people with mild-to-moderate high triglycerides had almost twice the chance of carrying a specific genetic variant compared to those with normal levels, while those with severe high triglycerides had about 3.6 times the chance. Understanding these genetic differences is important because it can lead to better treatment strategies for high triglycerides in people of African ancestry. Who this helps: Patients of African ancestry with high triglyceride levels.

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This research studied a new method called endoPRS that improves the prediction of disease risk by using information from related traits, like eosinophil count, for conditions like childhood asthma. The findings showed that endoPRS offers better prediction accuracy than existing methods, specifically improving risk assessments for childhood asthma by utilizing genetic data effectively. This is important because it can lead to better targeted prevention and treatment strategies for patients at risk of asthma. Who this helps: This helps patients, especially children at risk of asthma, and their doctors.

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Researchers studied the SOX6 gene and its role in abdominal and thoracic aortic aneurysms, which are serious conditions that can lead to death. They found that SOX6 levels were higher in patients with these aneurysms, and in experiments with mice, they discovered that removing SOX6 significantly affected the aneurysms' development. These findings suggest that targeting SOX6 could lead to new treatments for these dangerous conditions. Who this helps: This helps patients with aortic aneurysms and their doctors by identifying a potential new treatment option.