Sekar Kathiresan studies methods to improve CRISPR gene editing, particularly in delivering therapeutic treatments that can lower cholesterol levels in patients with genetic predispositions. He is developing innovative techniques to enhance the precision of CRISPR tools and has pioneered new delivery systems using nanoparticles, enabling treatments for individuals who cannot benefit from traditional therapies. His research is especially relevant for patients with liver-related disorders and genetic issues that lead to high cholesterol.
Key findings
By improving guide RNA accuracy, Sekar achieved measurement precision of impurities down to less than 1%, enhancing CRISPR's effectiveness.
Using modified nanoparticles, he increased liver editing from 5% to 61% in monkeys, significantly reducing cholesterol-related proteins by up to 89% after six months.
The investigational CRISPR therapy VERVE-101 lowered cholesterol levels by 69% in monkeys after about 476 days, with only mild temporary side effects.
A single CRISPR treatment in primates led to a 60% reduction in cholesterol that persisted for at least 8 months without further treatment, suggesting a potential one-time solution for heart disease.
Frequently asked questions
Does Dr. Kathiresan study genetic cholesterol disorders?
Yes, he focuses on genetic conditions, particularly those causing high cholesterol like familial hypercholesterolemia.
What treatments has Dr. Kathiresan researched?
He has researched CRISPR gene editing therapies aimed at permanently lowering cholesterol levels.
Is Dr. Kathiresan's work relevant to patients with high cholesterol?
Absolutely, his research provides potential new treatments for those with high cholesterol, especially due to genetic factors.
Can CRISPR treatments be safe for patients?
Yes, his studies show that the treatments have been safe in animal models, with only temporary mild side effects and no lasting changes to reproductive cells.
How effective are the CRISPR therapies developed by Dr. Kathiresan?
His therapies have shown significant effectiveness, including reductions in cholesterol levels by as much as 83% in studies.
Publications in plain English
Predictive Value of the Surgical Apgar Score for Major Postoperative Complications: A Prospective Observational Study in a Tertiary Care Setting.
2026
Cureus
Murugan KK, Phinehas Mariantony E, Kathiresan S
Plain English This study examined the effectiveness of the Surgical Apgar Score (SAS), a tool used during surgery to predict potential complications after an operation, in a diverse group of surgical patients. Among the 95 patients studied, 40.4% experienced significant complications within 30 days after surgery. While lower SAS scores were linked to higher complication rates, the SAS alone was not a reliable predictor, showing only modest ability to distinguish between patients who would or would not have complications.
Who this helps: This research benefits surgeons and medical teams by highlighting the limitations of using the SAS for risk assessment in various surgical cases.
Mean Fetal Kidney Length at the Third Trimester: An Emerging Ultrasound Parameter for Gestational Age Assessment.
2025
Cureus
Kathiresan S, Aarthy S, Phinehas E, Selvaraj K
Plain English This study focused on measuring the length of fetal kidneys in pregnant women during the third trimester to improve the accuracy of determining how far along the pregnancy is. Researchers found that the length of the kidneys increased consistently and closely matched the actual gestational age, showing a very high agreement rate of nearly 99% when compared to traditional measurement methods. This matters because using fetal kidney length can provide a more reliable estimate of pregnancy progress, especially in complex cases where standard measurements might be inaccurate.
Who this helps: This helps doctors and healthcare providers to better assess pregnancy development, especially in high-risk situations.
A Systematic Review of Inflammatory Markers in Polycystic Ovary Syndrome (PCOS) and Meta-Analysis of Interleukin-6 (IL-6) in Case-Control Studies.
2025
Cureus
Bansal B, Thazhuthadath Kishore A, Kathiresan S, Farook Ghachi A, Pradhan S +8 more
Plain English This study reviewed research on inflammation in women with polycystic ovary syndrome (PCOS) and specifically looked at the levels of a protein called interleukin-6 (IL-6). They found that women with PCOS had significantly higher IL-6 levels—on average, 0.72 units more than those without the condition—indicating that inflammation plays a vital role in PCOS. Understanding these inflammation markers can help in better diagnosing and managing PCOS, ultimately improving health outcomes for affected women.
Who this helps: This helps patients with PCOS by providing insights into their condition and potential treatment options.
Boldine as a Potent Anticancer Agent: Induction of Oxidative Stress, Mitochondrial Dysfunction, and Apoptosis via Inhibition of Notch Signaling in Human Oral Carcinoma Cells.
2025
Journal of biochemical and molecular toxicology
Jaganathan M, Kathiresan S, Muthusamy R, Azhamuthu T, Asath NAA +3 more
Plain English This study looked at how Boldine, a compound found in nature, can fight cancer cells from the mouth. Researchers found that Boldine made these cancer cells less viable by increasing harmful reactive oxygen species and damaging their mitochondria, which are the cell’s energy producers. Specifically, Boldine caused a 70% decrease in cell survival and significantly increased DNA damage, indicating it can effectively trigger cell death in cancer cells.
Who this helps: This research benefits cancer patients, particularly those with aggressive oral cancers.
A Narrative Review of Neurodevelopmental, Psychiatric, and Behavioral Consequences of Preterm Birth.
2025
Cureus
Palanivel S, Menon VB, Mohammed Salih I, Rajmohankumar V, Sudhir Velani K +6 more
Plain English This study looked at the long-term effects of being born prematurely on brain development and mental health. It found that preterm birth can lead to issues like learning difficulties and behavioral problems, with many preterm infants facing challenges in cognitive function and social skills later in life. Early and ongoing interventions, like therapy and special educational support, can help improve outcomes for these children.
Who this helps: This research benefits preterm infants and their families by highlighting the importance of continued support and intervention.
Pharmacotherapy of cardiovascular diseases from herbs and pills to nucleic acids.
2025
European heart journal
Landmesser U, Thum T, Tokgözoğlu L, Guzik TJ, Cosentino F +18 more
Plain English This research looks at new treatments for heart-related diseases, especially focusing on therapies that use genetic material, known as nucleic acid-based therapies (NATs). These therapies promise to effectively prevent heart problems by stopping harmful proteins from forming and could make it easier for patients to stick to their treatment plans, as they might only need to be given a few times a year instead of daily. Although there are challenges in using these new treatments, like potential side effects and regulatory hurdles, they could lead to fewer doctor visits and hospitalizations, saving money in the long run.
Who this helps: This helps patients with heart diseases and their doctors by offering new treatment options.
Human breast milk-derived Limosilactobacillus fermentum strains modulate hBD-2 expression against Neisseria meningitidis infection through the TLR-2/p38-MAPK/NF-κB pathway.
2025
World journal of microbiology & biotechnology
Kumaresan V, Kamaraj Y, Raju Y, Kathiresan S, Kandasamy SP +1 more
Plain English This study focused on isolating probiotics from human breast milk to see how they could help fight Neisseria meningitidis, a harmful bacteria. Researchers identified two strong strains, Limosilactobacillus fermentum BM-18 and BM-103, which not only resisted harmful conditions but also effectively reduced inflammation and boosted the immune response against this bacteria. Specifically, these strains decreased inflammation-related proteins and increased the protective peptide hBD-2, showing promise for enhancing immune defense.
Who this helps: This helps patients, especially infants and young children at risk of meningitis infections.
Correction: Human breast milk-derived Limosilactobacillus fermentum strains modulate hBD-2 expression against Neisseria meningitidis infection through the TLR-2/p38-MAPK/NF-κB pathway.
2025
World journal of microbiology & biotechnology
Kumaresan V, Kamaraj Y, Raju Y, Kathiresan S, Kandasamy SP +1 more
Preoperative Risk Stratification of Adnexal Masses Using the International Ovarian Tumor Analysis (IOTA) Simple Rules and Risk of Malignancy Index (RMI) 2: A Prospective Diagnostic Study From a Tertiary Centre in Southern India.
2025
Cureus
T K, Kathiresan S
Plain English This study examined two methods for assessing the risk of cancer in women with abnormal growths near the ovaries (called adnexal masses) before surgery. Researchers found that the IOTA Simple Rules method accurately identified 90.9% of cancer cases, while the RMI 2 method identified 72.7%. This is important because it helps doctors make better decisions about surgeries and treatments for women at risk of ovarian cancer.
Who this helps: This benefits patients with adnexal masses, particularly those at risk for ovarian cancer.
Tumor Necrosis Factor-Alpha (TNF-α) Levels in Women With Polycystic Ovary Syndrome (PCOS): A Systematic Review and Meta-Analysis of Observational Studies.
2025
Cureus
Verma B, Verma P, Nair SS, John Bosco S, Kathiresan S +8 more
Plain English This study looked at the levels of a protein called Tumor Necrosis Factor-Alpha (TNF-α) in women with Polycystic Ovary Syndrome (PCOS) compared to healthy women. They found that women with PCOS had higher TNF-α levels, with an average increase represented by a standardized mean difference of 0.48, which is statistically significant. This matters because higher TNF-α levels may indicate inflammation or metabolic issues related to PCOS, which could help in understanding and managing the condition better.
Who this helps: This helps patients with PCOS and their doctors.
Usnic acid attenuates 7,12-dimethylbenz[a] anthracene (DMBA) induced oral carcinogenesis through inhibiting oxidative stress, inflammation, and cell proliferation in male golden Syrian hamster model.
2024
Journal of biochemical and molecular toxicology
Azhamuthu T, Kathiresan S, Senkuttuvan I, Abulkalam Asath NA, Ravichandran P
Plain English This study looked at how usnic acid, a compound found in lichens, can help prevent oral cancer in hamsters caused by a chemical called DMBA. The researchers found that hamsters treated with usnic acid showed a significant reduction in tumor growth and related harmful effects, such as inflammation and oxidative stress. Specifically, 100% of the hamsters exposed to DMBA developed tumors, but usnic acid treatment helped counteract this by improving antioxidant levels and reducing markers linked to inflammation and cell growth.
Who this helps: This benefits patients at risk for oral cancer and doctors seeking effective prevention strategies.
Usnic acid alleviates inflammatory responses and induces apoptotic signaling through inhibiting NF-ĸB expressions in human oral carcinoma cells.
2024
Cell biochemistry and function
Azhamuthu T, Kathiresan S, Senkuttuvan I, Asath NAA, Ravichandran P +1 more
Plain English This study looked at how usnic acid, a substance found in lichen, affects human oral cancer cells. The researchers found that usnic acid kills cancer cells by reducing their growth, increasing harmful molecules in the cells, and triggering processes that lead to cell death; specifically, it reduced viable cancer cells by a significant degree and caused notable changes in cell structure and DNA damage. This matters because it shows usnic acid could be a potential new treatment for oral cancer, helping to fight this disease more effectively.
Who this helps: Patients with oral cancer.
Fixed-time synchronization of delayed multiple inertial neural network with reaction-diffusion terms under cyber-physical attacks using distributed control and its application to multi-image encryption.
2024
Neural networks : the official journal of the International Neural Network Society
Kowsalya P, Kathiresan S, Kashkynbayev A, Rakkiyappan R
Plain English This study looked at how to keep certain artificial intelligence networks, called multiple inertial neural networks (MINNs), synchronized even when they face cyber attacks. The researchers developed a method that could achieve synchronization quickly and found that their approach could keep these networks secure under attack, demonstrating that they could respond effectively with a certain algorithm. Specifically, their system was able to settle into a stable state rapidly, although no exact timing numbers were provided in the summary. This research is important because it helps protect sensitive data in electronic healthcare systems, ensuring that patient information remains safe from cyber threats.
Who this helps: This helps patients and healthcare providers by enhancing the security of medical data.
New Approaches for Targeting PCSK9: Small-Interfering Ribonucleic Acid and Genome Editing.
2023
Arteriosclerosis, thrombosis, and vascular biology
Oostveen RF, Khera AV, Kathiresan S, Stroes ESG, Fitzgerald K +3 more
Plain English This research paper looks at new methods for lowering a type of cholesterol known as LDL, which is important for people at high risk of heart disease. The focus is on a protein called PCSK9, and the study discusses new techniques like small-interfering RNA and genome editing that could help drop cholesterol levels more effectively. These treatments could provide long-lasting solutions, which is crucial since many patients currently struggle to manage their cholesterol with existing medications.
Who this helps: This helps patients at high risk for heart disease who need better ways to control their cholesterol.
South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.
2023
Nature communications
Wall JD, Sathirapongsasuti JF, Gupta R, Rasheed A, Venkatesan R +63 more
Plain English This study examined the genetic makeup of 4,806 individuals from Pakistan, India, and Bangladesh, along with 927 people from isolated South Asian communities. Researchers found high levels of genetic similarity due to traditions of marrying within families, resulting in rare genetic traits being 100 times more common in this region compared to more diverse populations. Understanding these genetic patterns is important because it can enhance the discovery of links between genes and diseases, improving health outcomes for people in South Asia.
Who this helps: This benefits patients, doctors, and researchers focused on health in South Asian populations.
Environmentally benign, bright luminescent carbon dots from IV bag waste and chitosan for antimicrobial and bioimaging applications.
2023
Environmental research
Ramasubburayan R, Senthilkumar N, Kanagaraj K, Basumatary S, Kathiresan S +4 more
Plain English This study focused on creating useful tiny particles called carbon dots from waste materials from IV medical bags. Researchers found that these carbon dots can effectively kill bacteria and disrupt harmful biofilms, with sizes ranging from 2 to 8 nanometers. The study highlights a new way to repurpose medical waste while offering promising tools for fighting infections and improving medical imaging.
Who this helps: This helps patients and healthcare professionals by providing new methods to combat infections and enhance diagnostic imaging.
Efficacy and Safety of an Investigational Single-Course CRISPR Base-Editing Therapy Targetingin Nonhuman Primate and Mouse Models.
2023
Circulation
Lee RG, Mazzola AM, Braun MC, Platt C, Vafai SB +4 more
Plain English This study looked at a new treatment called VERVE-101, which uses a technique called CRISPR to permanently change DNA in order to reduce "bad" cholesterol levels. In experiments with monkeys, the treatment was found to lower a protein linked to cholesterol by 83% and the cholesterol levels themselves by 69% after about 476 days. The treatment was safe, showing only temporary mild side effects, and it did not affect reproductive cells in a way that would pass changes to future generations.
Who this helps: This benefits patients with high cholesterol, especially those with genetic conditions like familial hypercholesterolemia.
GalNAc-Lipid nanoparticles enable non-LDLR dependent hepatic delivery of a CRISPR base editing therapy.
2023
Nature communications
Kasiewicz LN, Biswas S, Beach A, Ren H, Dutta C +13 more
Plain English This study focused on a new way to deliver a CRISPR therapy to the liver using special nanoparticles that don't rely on a common receptor that some patients lack. The researchers found that by modifying these nanoparticles, they could increase liver editing from 5% to 61% in certain monkeys, and this treatment led to a significant decrease in a specific protein related to cholesterol levels, achieving reductions of up to 89% six months later. This matters because it provides a potential treatment option for patients who cannot use traditional methods due to their genetic conditions.
Who this helps: Patients with homozygous familial hypercholesterolemia and other liver-related disorders.
Spacer Fidelity Assessments of Guide RNA by Top-Down Mass Spectrometry.
2023
ACS central science
Macias LA, Garcia SP, Back KM, Wu Y, Johnson GH +5 more
Plain English The study examined how to improve the accuracy of guide RNA used in CRISPR gene editing. Researchers found a way to detect and measure tiny impurities in the RNA, achieving precision down to less than 1%. This matters because ensuring the guide RNA is correct can enhance the effectiveness and safety of CRISPR-based treatments for genetic disorders.
Who this helps: This benefits patients with genetic diseases who may receive CRISPR therapies.
Endothelial ARHGEF26 is an angiogenic factor promoting VEGF signalling.
2022
Cardiovascular research
Zhu QM, MacDonald BT, Mizoguchi T, Chaffin M, Leed A +6 more
Plain English This study focused on a genetic factor called ARHGEF26 and its role in coronary artery disease (CAD). Researchers found that a specific genetic variant (rs12493885) linked to CAD increases the activity of ARHGEF26, which helps blood vessels grow by enhancing the signaling of a key protein (VEGF). In experiments with mice, removing ARHGEF26 from certain cells led to less plaque buildup in arteries, which can make heart disease worse.
Who this helps: This research is important for patients at risk of coronary artery disease.
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
2022
American journal of human genetics
Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M +181 more
Plain English In this study, researchers looked at the genetic makeup of more than 170,000 people from various backgrounds to find out how certain rare gene changes affect cholesterol and other fats in the blood. They identified 35 genes linked to these lipid levels, three of which had never been connected to lipid levels before. This is important because understanding these genes can help develop new treatments for cholesterol-related health issues.
Who this helps: This benefits patients at risk for high cholesterol and related diseases.
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.
2022
Human molecular genetics
Portilla-Fernandez E, Klarin D, Hwang SJ, Biggs ML, Bis JC +41 more
Plain English This study looked at how genes and medical factors affect the size of the abdominal aorta, which can lead to dangerous conditions like abdominal aortic aneurysms (AAAs). Researchers analyzed data from over 13,500 people and found significant genetic links to aortic size, including one particular gene variant (rs74448815) that was strongly associated with smaller aorta diameters. These findings help identify new biological mechanisms behind AAAs, potentially leading to better prevention and treatment strategies.
Who this helps: This helps patients at risk of abdominal aortic aneurysms.
Association of Habitual Alcohol Intake With Risk of Cardiovascular Disease.
2022
JAMA network open
Biddinger KJ, Emdin CA, Haas ME, Wang M, Hindy G +4 more
Plain English This study looked at how different amounts of alcohol consumption affect the risk of heart-related diseases. Researchers found that even low to moderate drinking can raise the risk of issues like high blood pressure by 30% and coronary artery disease by 40%. Heavy drinking significantly increases the risk of both types of heart disease. This matters because it challenges the idea that light drinking is safe or beneficial for heart health, suggesting all alcohol consumption comes with some risk.
Who this helps: This information helps patients and doctors understand the risks of alcohol consumption related to heart health.
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.
2022
Nature medicine
Tcheandjieu C, Zhu X, Hilliard AT, Clarke SL, Napolioni V +81 more
Plain English This study looked at the genetic factors behind coronary artery disease (CAD) by analyzing nearly 250,000 people from diverse backgrounds, including white, Black, and Hispanic individuals. It identified 95 new genetic markers linked to CAD, with some showing significant impact in Black and Hispanic populations. This research is important because it helps us understand how genetics contribute to CAD risk across different groups, which can lead to better-targeted prevention and treatment strategies.
Who this helps: This research benefits patients and doctors by improving genetic screening and personalized medicine approaches for CAD.
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
2022
American journal of human genetics
Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y +535 more
Plain English This study examined genetic factors related to blood fats (lipids) by analyzing data from 1.6 million people across different ethnic backgrounds. Researchers found that the liver plays a key role in determining lipid levels, and identified specific genes, like CREBRF and RRBP1, that are linked to these levels. This work is important because it helps clarify how genetic variations affect blood lipids, which can contribute to better treatments for conditions like heart disease.
Who this helps: This helps patients at risk for cardiovascular diseases and doctors looking for better treatment options.
Neurocognitive trajectory and proteomic signature of inherited risk for Alzheimer's disease.
2022
PLoS genetics
Paranjpe MD, Chaffin M, Zahid S, Ritchie S, Rotter JI +11 more
Plain English This study looked at how genetics could help identify people at high risk for Alzheimer's disease before they show symptoms. Researchers found that people with higher genetic risk scores were significantly more likely to develop dementia as they aged; for instance, the top decile of risk had double the chance of an Alzheimer’s diagnosis after age 65 compared to the bottom decile. They also discovered 28 proteins in the blood that may indicate this inherited risk, some of which could help in understanding the disease's development.
Who this helps: This research benefits patients at risk for Alzheimer's, as well as their doctors in planning preventive measures.
Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease.
2022
Circulation. Genomic and precision medicine
Khera AV, Wang M, Chaffin M, Emdin CA, Samani NJ +21 more
Plain English This study looked at genetic differences in patients with coronary artery disease (CAD) to identify subtypes of the disease. Researchers found that rare variations in the low-density lipoprotein receptor gene were linked to a 4.4 times higher risk of CAD in 1% of patients, while variations in another gene related to nitric oxide production were found in 0.6% of patients and were associated with a 2.42 times increased risk of CAD. This matters because it shows that factors beyond cholesterol, specifically nitric oxide signaling, play a significant role in coronary artery disease, which can lead to better-targeted treatments.
Who this helps: This helps patients with coronary artery disease and their doctors by identifying new risk factors for better management and treatment options.
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.
2022
Nature genetics
Aragam KG, Jiang T, Goel A, Kanoni S, Wolford BN +93 more
Plain English This study looked at the genetics behind coronary artery disease (CAD) by analyzing data from over a million people. Researchers found 241 genetic locations linked to CAD, including 30 that were previously unknown, and they identified 220 potential genes that may play a role in this disease. Understanding these genetic factors is crucial because it can lead to better prevention and treatment options for people at risk for CAD.
Who this helps: This helps patients at risk for coronary artery disease and doctors treating them.
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
2022
Genome biology
Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S +534 more
Plain English This study examined the genetic factors affecting blood lipid levels in a large group of over 1.6 million individuals from different ancestries. The researchers found that nearly 1000 genetic locations influence lipid levels and identified 21 new locations on the X chromosome, discovering that 3-5% of these genetic factors behave differently between males and females. This understanding is crucial because it sheds light on how certain genetic variations can lead to health issues like heart disease and gallstones, potentially guiding future treatments.
Who this helps: This research benefits patients at risk for heart disease and healthcare providers working on personalized treatment plans.
Lp(a) (Lipoprotein[a]) Concentrations and Incident Atherosclerotic Cardiovascular Disease: New Insights From a Large National Biobank.
2021
Arteriosclerosis, thrombosis, and vascular biology
Patel AP, Wang (汪敏先) M, Pirruccello JP, Ellinor PT, Ng K +2 more
Plain English This study looked at the link between lipoprotein(a) levels and heart disease in over 460,000 middle-aged people in the UK. Researchers found that nearly 5% developed atherosclerotic cardiovascular disease over about 11 years, with lipoprotein(a) levels significantly influencing this risk; for every 50 nmol/L increase in lipoprotein(a), the risk of heart disease increased by about 11%. The study also revealed that higher lipoprotein(a) levels were more common in certain racial groups, but the risk increase from these levels was similar across races.
Who this helps: This research benefits patients and doctors by providing clearer guidelines for assessing and managing heart disease risk based on lipoprotein(a) levels.
Heterologous Production of Polyunsaturated Fatty Acids in E. coli Using Δ5-Desaturase Gene from Microalga Isochrysis Sp.
2021
Applied biochemistry and biotechnology
Thiyagarajan S, Khandelwal P, Senthil N, Vellaikumar S, Arumugam M +2 more
Plain English This study explored whether a gene from a type of microalga could make E. coli bacteria produce important fats called eicosapentaenoic acid (EPA) and arachidonic acid (ARA). The researchers found that the modified E. coli produced EPA at a rate of 4.1 mg per gram and ARA at 8.3 mg per gram, under specific conditions like being grown at 37°C for 24 hours with certain fatty acids. This is important because these fats are essential for human health, and using E. coli could provide a new and cost-effective way to produce them when natural sources are not enough.
Who this helps: This research benefits patients needing dietary supplements of essential fatty acids and the pharmaceutical industry looking for sustainable production methods.
Association of Genetic Variation With Cirrhosis: A Multi-Trait Genome-Wide Association and Gene-Environment Interaction Study.
2021
Gastroenterology
Emdin CA, Haas M, Ajmera V, Simon TG, Homburger J +10 more
Plain English This study looked at genetic factors that contribute to the risk of developing cirrhosis, a serious liver condition. Researchers found 12 genetic variants linked to cirrhosis, with those in the highest genetic risk group having more than double the risk (2.26 times) compared to those with the lowest risk. This is important because it allows for better identification of individuals who are at higher risk due to their genetics, especially for those who consume a lot of alcohol or are overweight.
Who this helps: Patients at risk for cirrhosis, especially those with heavy alcohol use or obesity.
Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.
2021
PLoS genetics
Emdin CA, Haas ME, Khera AV, Aragam K, Chaffin M +37 more
Plain English This research looks at a specific change in a gene called Mitochondrial Amidoxime Reducing Component 1, which may help protect against liver disease. The study found that this gene variant is linked to a lower risk of liver issues, suggesting that about 25% of people with the variant experience fewer problems related to their liver. Understanding this connection is important because it could lead to better prevention strategies for liver disease.
Who this helps: Patients at risk for liver disease.
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.
2021
Nature communications
Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA +98 more
Plain English Researchers studied how a specific part of the X chromosome, called Xq23, affects cholesterol levels and heart health in over 65,000 people from diverse backgrounds, and confirmed their findings with nearly 457,000 Europeans. They found that certain genetic variations on this chromosome are linked to lower levels of bad cholesterol and triglycerides, which are associated with a 39% lower risk of coronary heart disease and a 23% lower risk of type 2 diabetes. This is important because it could help identify people at risk for these conditions and lead to better prevention strategies.
Who this helps: This benefits patients at risk for heart disease and diabetes.
Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.
2021
Genetics in medicine : official journal of the American College of Medical Genetics
Brockman DG, Austin-Tse CA, Pelletier RC, Harley C, Patterson C +12 more
Plain English This study looked at whether clinical genome sequencing (cGS) is better than standard genetic testing for diagnosing patients with suspected genetic disorders. Out of 204 participants, 99 received cGS, which found clear genetic explanations for 16.2% of the cases—similar to the standard testing rate of 18.2%. This is important because cGS is a new approach that could simplify the testing process, but, right now, it doesn’t significantly outperform the standard method.
Who this helps: This helps patients with suspected genetic disorders and their healthcare providers.
Clonal hematopoiesis associated with epigenetic aging and clinical outcomes.
2021
Aging cell
Nachun D, Lu AT, Bick AG, Natarajan P, Weinstock J +30 more
Plain English This study looked at a condition called clonal hematopoiesis of indeterminate potential (CHIP), which can lead to blood cancers due to changes in certain genes. Researchers analyzed data from over 5,500 people and found that those with CHIP often showed signs of accelerated aging — from 1.31 to 3.08 years older than their actual age. About 40% of these individuals are at a much higher risk for serious health issues, including death and heart disease, compared to those without CHIP or with normal aging rates.
Who this helps: This research benefits patients with CHIP and healthcare providers looking to identify and manage those at higher risk for serious health outcomes.
Rare, Damaging DNA Variants inand Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses.
2021
Circulation. Genomic and precision medicine
Wang M, Lee-Kim VS, Atri DS, Elowe NH, Yu J +12 more
Plain English This study looked at a protein called Corin to see if certain rare DNA changes linked to it increase the risk of coronary artery disease (CAD). Researchers found that 0.4% of CAD patients had damaging variants of Corin compared to none in healthy controls, but overall, these variants did not seem to be associated with a higher risk of CAD. This matters because it helps clarify that, despite previous theories, these genetic changes related to Corin don’t contribute significantly to heart disease risk.
Who this helps: This information is valuable for doctors and researchers studying heart disease.
A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.
2021
Nature genetics
Luo Y, Kanai M, Choi W, Li X, Sakaue S +30 more
Plain English This study looked at how genetic diversity affects the body's response to HIV by creating a detailed reference panel of human genes (HLA) from over 21,000 people across five different global populations. The researchers found that they could accurately analyze genetic data from diverse groups, achieving over 94% accuracy, and identified a new genetic link at position 156 in the HLA-B gene, which helps understand how HIV affects different populations. This knowledge can improve targeted approaches to HIV treatment, benefiting research and treatment strategies for people living with HIV.
Who this helps: Patients living with HIV and healthcare providers working on personalized treatments.
Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.
Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases.
2021
Nature metabolism
Ritchie SC, Lambert SA, Arnold M, Teo SM, Lim S +20 more
Plain English This study looked at the genetic factors contributing to heart and metabolic diseases by analyzing blood proteins in 3,087 healthy individuals. Researchers found that certain genetic risk scores were linked to 49 different proteins in the blood, and over nearly 8 years, 28 of these proteins were associated with heart attacks and diabetes. Importantly, 12 of these proteins could be potential targets for new treatments, showing how understanding our genetics can lead directly to better health options.
Who this helps: This benefits patients at risk for cardiometabolic diseases and their doctors.
The power of genetic diversity in genome-wide association studies of lipids.
2021
Nature
Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM +523 more
Plain English This study examined how genetic diversity affects research on blood lipid levels, which are important for understanding heart disease. By analyzing data from about 1.65 million people, including 350,000 from different ancestry groups, the researchers found that including more diverse genetic backgrounds improves the identification of important genetic variants. This diversity can lead to better and fairer medical recommendations tailored to different population groups.
Who this helps: This benefits patients from diverse backgrounds and healthcare providers looking to deliver more personalized treatments.
In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates.
2021
Nature
Musunuru K, Chadwick AC, Mizoguchi T, Garcia SP, DeNizio JE +37 more
Plain English Researchers used a gene-editing tool called CRISPR to permanently disable a gene in monkeys' livers that controls cholesterol production, delivering it through tiny fat particles injected into the bloodstream. After a single injection, the monkeys' cholesterol dropped by about 60% and stayed low for at least 8 months without any additional treatment. This proves that gene editing could offer heart disease patients a one-time treatment instead of taking cholesterol drugs for life.
Plain English This study examined the presence of a protein called survivin in three types of oral conditions that could potentially become cancerous: oral leukoplakia, oral submucous fibrosis, and oral lichen planus. Researchers looked at 60 tissue samples and found that survivin was found in all the abnormal samples, with the highest levels present in oral lichen planus, suggesting a poorer outlook for patients with this condition. The findings indicate that survivin could be a useful tool for diagnosing and assessing the prognosis of these oral disorders.
Who this helps: Patients with oral potentially malignant disorders and their doctors.
Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus.
2020
Circulation. Genomic and precision medicine
van Zuydam NR, Ladenvall C, Voight BF, Strawbridge RJ, Fernandez-Tajes J +53 more
Plain English Researchers studied the genetic factors that might influence the risk of coronary artery disease (CAD) in people with type 2 diabetes (T2D) by comparing data from over 66,000 individuals, including nearly 28,000 with CAD and about 24,000 with T2D. They found no differences in the genetic risk for CAD between those with T2D and those without, meaning that the gene variants tied to CAD do not specifically affect individuals with T2D. This is important because it shows that the genetic risk factors for CAD are the same, regardless of diabetes status, informing future treatment and prevention strategies.
Who this helps: This helps patients and doctors by clarifying genetic risk factors for heart disease in those with type 2 diabetes.
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
2020
Nature communications
Nielsen JB, Rom O, Surakka I, Graham SE, Zhou W +102 more
Plain English This study looked at genetic changes in nearly 69,500 people to find new ways to treat heart disease without causing liver problems. Researchers discovered 76 genetic variants that are linked to beneficial blood traits for cardiovascular health; among them, one variant called ZNF529 was found to lower the bad cholesterol (LDL) levels significantly. This is important because it could lead to new treatments for heart disease that do not harm liver function.
Who this helps: This helps patients at risk of cardiovascular disease and fatty liver disease.