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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.
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.
Choudhary is an assistant professor of medicine at Harvard MedicalSchool The implications of this advance are wide-ranging. CRISPR-Cas9, often likened to “molecular scissors,” allows scientists to cut DNA at targeted sites to snip, repair, or replace genes.
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.
“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.
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.
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.
Expert and Patient Advocacy Support “Patients with HER2-positive BTC who progress beyond first-line therapy face a grim prognosis,” said Dr. Arndt Vogel , professor of gastroenterology at Hannover MedicalSchool. The approval of Ziihera offers a beacon of hope for patients who urgently need alternatives beyond chemotherapy.”
Gray, in London to discuss the significance of her recovery at the Third International Summit on Human Genome Editing , described Casgevy as “a new beginning for people with sickle cell disease.” ” Despite its association with genome editing, 1 CRISPR didn’t start out as a tool for fighting genetic disease.
Bernstein is also chair of the Department of Cancer Biology at Dana-Farber Cancer Institute, a professor in cell biology and pathology at Harvard MedicalSchool, and holds the Richard and Nancy Lubin Family Chair. Later in the disease, other genetic drivers that are not targeted by the drug take over.
Breathing low-oxygen air slows Parkinson’s progression in mice By Corie Lok August 6, 2025 Breadcrumb Home Breathing low-oxygen air slows Parkinson’s progression in mice Low-oxygen air prevented and even reversed symptoms in a mouse model of Parkinson’s disease. Morton professor of anesthesia at Harvard MedicalSchool and MGH.
The same team also invented several other products that proved useful for treating battlefield injuries, including gamma globulins to inoculate soldiers against diseases and fibrin film to minimize bleeding during brain surgeries. Cohn was the only non-medical researcher invited, and he made a big impression. At the time, the U.S.
Current labeling also warns against using estrogen for the prevention of cardiovascular disease or dementia. The study was stopped early in 2002 after researchers observed an increased risk of breast cancer and heart disease. The panelists were generally dismissive of the WHI study and its findings.
Related news Single-cell analysis of Crohn’s disease reveals a detailed picture of inflammation in the gut Up to half of patients with Crohn’s disease, an inflammatory bowel disease, develop a complication called fibrosis, where the gut becomes scarred and obstructed, causing pain and bloating.
Ancient History: Antiquity to 1763 AD When I was in medicalschool in 2007, I learned that willow bark tea has been used for thousands of years to treat pain and fever. estimated to be about 29 million people) took daily aspirin to prevent cardiovascular disease. Join Asimov Press. As a piece of history, it’s fantastic.
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.
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
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.
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.
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.
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.
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