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Related groups Xavier lab Over the past two decades, large genetic studies have linked tens of thousands of DNA variants to thousands of human traits and diseases. Yet, correcting the effects of those variants to treat disease has been hampered in part by the lack of precise molecular tools to do so.
The landscape of genetic medicine is undergoing a profound transformation, driven by innovative approaches that challenge the traditional, disease-specific paradigms. My transition to biotech and rare diseases was deeply personal – my son was diagnosed with Duchenne muscular dystrophy in 2020. “My
Scientists create next generation of tools in battle against brain disease By Corie Lok May 21, 2025 Breadcrumb Home Scientists create next generation of tools in battle against brain disease The findings contained in eight studies could lead to targeted gene therapies for brain disorders. The tools are known as enhancer AAV vectors.
The tRCC Project aims to address these challenges, by partnering directly with patients, caregivers, and advocates to deepen understanding of this rare disease and generate new insights that could lead to new treatments. Tags: Count Me In Cancer Rare Disease
Two Broad affiliates also received the award: Paula Hammond, an MIT Institute Professor and vice provost for faculty, and David Walt, Hansjrg Wyss Professor of Biologically Inspired Engineering at Harvard MedicalSchool and a professor of pathology at Brigham and Womens Hospital. Lisa Yang and Hock E.
Scientists link certain gut bacteria to lower heart disease risk By Allessandra DiCorato April 2, 2024 Breadcrumb Home Scientists link certain gut bacteria to lower heart disease risk Study finds several species of cholesterol-metabolizing bacteria in people with lower cholesterol levels. Online April 2, 2024. DOI:10.1016/j.cell.2024.03.014.
Researchers have typically analyzed these cells as a mixed-together group, but this approach can miss rare cell types, and makes it difficult to draw conclusions about how cells interact to drive the disease. They also applied four spatial transcriptomics methods, including Slide-Seq and MERFISH, to a subset of the biopsies.
By Makenzie Kohler October 23, 2023 People of South Asian ancestry around the world have more than double the risk of developing cardiometabolic diseases like diabetes, heart attack, and stroke compared to other populations.
They found significant associations between the thinning of different retinal layers and increased risk of developing ocular, cardiac, pulmonary, metabolic, and neuropsychiatric diseases and identified genes that are associated with retinal layer thickness. Their findings are published in Science Translational Medicine. “We
The results come from a open-label, proof-of-concept, Phase 2 study (NCT04520451) and highlight rilzabrutinib’s potential as a disease-changing treatment option for a condition that currently has limited and non-specific treatment options and involves substantial patient suffering due to its chronic and progressive course.
In this article, we will delve into the world of condensate biology and explore the groundbreaking research projects undertaken to discover the potential they hold for diseases such as amyotrophic lateral sclerosis ( ALS ) and colorectal cancer. Klein notes the importance of Dewpoint’s disease-agnostic approach.
However, researchers lack efficient ways to explore how these genetic variants are molecularly connected to cardiovascular disease, limiting efforts to develop therapeutics. The team found that a key biological mechanism involved in a rare vascular disease may influence CAD risk.
“I was increasingly drawn to understanding the underlying biology of disease at a molecular level – the ‘why’ – and how we might harness science to create better medicines for patients,” Lepore says. Today’s broad-spectrum drugs often miss the mark, especially for chronic diseases like COPD or heart failure.
The way that clinicians subdivide diabetes patients now is based on symptoms, but in this study, the frequency of genetic risk factors seems to vary among patients with youth-onset T2D,” said Jason Flannick , Broad associate member and assistant professor at Boston Children’s Hospital and Harvard MedicalSchool. “We
Pediatric cancers exhibit differences at the genetic level compared to the same form of adult disease, which may influence the selected treatment. This New Alternative Model (NAM) provides a platform for High-Content Screening through disease modeling through the transplantation of primary patient tumors into immunocompromised lines.
The test, developed by a team from the Broad Institute of MIT and Harvard and Princeton University, and supported by the US Centers for Disease Control and Prevention, uses CRISPR to distinguish between the two main types of seasonal flu, influenza A and B, as well as seasonal flu subtypes H1N1 and H3N2. The Journal of Molecular Diagnostics.
“Type 2 diabetes is a disease of elevated blood sugar impacting approximately one in 10 people in the United States that can cause devastating health complications and is usually not cured. Udler and her colleagues assessed genetic findings from more than 1.4 Adapted from an MGH press release. Paper cited: Smith K, Deutsch AJ, McGrail C.,
By Allessandra DiCorato September 18, 2024 Credit: National Institute of Allergy and Infectious Diseases, National Institutes of Health Colorized scanning electron micrograph of Escherichia coli, grown in culture and adhered to a cover slip. Pust is in the lab of Xavier, who is co-director of its Infectious Disease and Microbiome Program.
25, 2021 — Recommendations are presented for the diagnosis and management of von Willebrand disease (VWD) in two clinical guidelines issued by the American Society of Hematology, International Society on Thrombosis and Haemostasis, National Hemophilia Foundation, and World Federation of Hemophilia and published online Jan. MONDAY, Jan.
AMVUTTRA’s approval has not only underscored the therapeutic potential of RNAi-based medicines but also signaled Alnylam’s readiness to scale its capabilities and deepen its impact across a wider range of disease areas. As we begin this exciting new chapter, I am energized about what lies ahead for Alnylam R&D and for patients,” he said.
By Andrea Tamayo May 30, 2023 Credit: Allison Dougherty, Broad Communications Isabella Teixeira-Soldano studies single cells to better understand disease progression. I told him I was struggling with my classes and that I didn’t think I'd make it to medicalschool. And if I did, I wouldn’t be happy.
They knew that discovering the genetic cause of her disorder would help them find other people like her, help get the condition formally recognized as a new disease, and help them better advocate for research into new treatments. This is the first human disease caused by loss of one copy of a lncRNA gene.
Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development. As our genetic analyses advance, studies like this highlight the value in reassessing established disease populations. She graduated from UC San Diego with a B.S.
This study is an important example of how understanding core metabolic requirements and functions of key bacteria can lead directly to new therapies that allow us to modify the microbiome for improved health,” said co-senior author Seth Bloom, an infectious diseases instructor at the Massachusetts General Hospital.
By Claire Hendershot March 8, 2024 Credit: National Institute of Allergy and Infectious Diseases, National Institutes of Health via U.S. First author Zoë Levine is an MD-PhD candidate at Harvard MedicalSchool and graduate student in the lab of Pardis Sabeti at the Broad.
Related groups Liu lab Choudhary lab Fischer lab Researchers studying the role of proteins in health and disease use experimental tools that inactivate proteins, destroy them, or prevent them from being made in cells.
Common genetic variants associated with cardiometabolic disease can produce phenotype changes of such small effect that they can be difficult to characterize. Common genetic variants associated with cardiometabolic disease can produce phenotype changes of such small effect that they can be difficult to characterize.
Getting into medicalschool was very competitive with thousands of candidates vying for a handful of positions, but I was fortunate enough to succeed. My inclination toward biological sciences led me to medicalschool to pursue a future in STEM. I opted for medicine due to my love for biological sciences.
GoPhAST-R’s test drive In the GoPhAST-R method, researchers expose bacterial samples to various antibiotics and then use an RNA detection platform to look for distinct patterns of change in messenger RNA expression, which reflect differences in the activity of bacterial genes.
New Tau Protein is Abnormal in Very Early Alzheimer’s Disease. Investigators with the University of Gothenburg identified new forms of tau protein that become abnormal in the very early stages of Alzheimer’s disease, even before the development of cognitive problems. Kidney Disease Leading Risk Factor for COVID-related Hospitalization.
A healthy immune system defends the body against disease and other conditions. Autoimmune disease impacts different parts of the body, weakening functionality. Researchers are aware of more than 80 diseases that occur when the immune system attacks the body’s own organs, tissues and cells. It may be life-threatening.
During my academic career, I had the opportunity to examine the underlying causes of neurodegenerative diseases like Parkinson’s disease and develop novel animal models to investigate potential disease-modifying therapeutics. For instance, we know ageing is a primary risk factor for many neurodegenerative diseases.
The initial focus of the Gerstner Center is to develop an ultrasensitive liquid biopsy test to detect minimal residual disease (MRD) — the presence of tumor cells in the body after treatment. The approach has potential uses beyond cancer diagnostics, and indeed, in other diseases beyond cancer.
Lloyd Bod is an associate member of Broad, a principal investigator in the Krantz Family Center for Cancer Research at Massachusetts General Hospital, and an assistant professor of medicine at Harvard MedicalSchool. Learn more about the Broad Discovery Series.
Novartis today announced a partnership with the American Society of Hematology (ASH) to provide six additional African nations with technology that is already being used in Ghana to document and share the diagnosis of babies with sickle cell disease. About Sickle Cell Disease.
Credit: Allison Colorado, Broad Communications Arriving in the Bay Area after a childhood in increasingly diverse surroundings, Martin became acutely aware of health disparities and the profound differences in disease prevalence among different populations. I wanted to know how I could have any impact on studying genetic diversity.”
Scientist II Michael Trembley is a scientist II at the Precision Cardiology Laboratory (PCL) of the Broad Institute and Bayer, where his research is focused on discovering and validating novel therapeutic targets for heart disease.
She helps lead a team that processes a variety of sample types to support research at the institute focused on a wide range of diseases. She previously served as a flow cytometry specialist at Harvard University and as a research technician at Harvard MedicalSchool. Rogers earned a B.S.
Drug discovery startup Insilico Medicine—alongside researchers from Harvard MedicalSchool, Johns Hopkins School of Medicine, the Mayo Clinic, and. ALS is a debilitating disease. Today, patients typically face an average life expectancy of between two and five years after symptom onset. This is only the beginning.”
at Harvard MedicalSchool, where he conducted research with Pardis Sabeti on evolution of human genetic resistance to infectious disease. Tabrizi earned his M.D.
Cell therapies hold immense promise for revolutionising the treatment of some of the most challenging diseases, but several technological and logistical hurdles stand in the way of unlocking their full potential. Outside of cancer are there other disease areas that Vittoria is exploring or plans to? Dr Siciliano received a B.S.
8, 2021 — The associations between interarm differences in systolic blood pressure and all-cause mortality, cardiovascular mortality, and cardiovascular disease have been confirmed in a review published online Dec. ” Two authors disclosed financial ties to the pharmaceutical and medical device industries. FRIDAY, Jan.
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