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Also featured are the FKBP12 binding motif (light blue triangle), the DNA barcode (red double helix), and the combinatorial library element (red hexagon). 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.
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. Participants will answer questions about their background, lifestyle, and medical history.
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.
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
Liquid biopsies enable clinicians to find and analyze tumor DNA in a patient’s blood sample to detect cancer early, monitor cancer recurrence, assess the patient’s response to treatment, and measure other clinically important features in real time, without invasive procedures.
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. When a mutation causes a deletion or duplication of larger areas of DNA, we call it Copy Number Variation. She graduated from UC San Diego with a B.S.
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.
His work focuses on developing novel technologies to improve the performance of liquid biopsies for cancer detection, using approaches in protein engineering to create agents that can improve the recovery of cell-free DNA from the body. Tabrizi earned his M.D. Tabrizi earned his M.D.
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.”
At the moment, CRISPR Cas-9 is only utilized for rare diseases on cells that have been removed from the body. The product is the most advanced gene-editing approach in development for transfusion-dependent beta thalassemia (TDT) and severe sickle cell disease. Cas-9 represents the Cas9 protein, an enzyme that cuts foreign DNA.
It's clear that new technologies, analytic techniques and models of disease are needed that can accommodate the polygenic background influences on even penetrant disease alleles before we can hope to gain greater understanding of pathological mechanisms. Please register at broad.io/stanleysymposium Please register at broad.io/stanleysymposium
By Tracy Hampton August 4, 2022 Credit: National Institutes of Allergy and Infectious Diseases, National Institutes of Health Colorized scanning electron micrograph of a B cell lymphocyte from a human donor.
Chung serves as the Mary Ellen Avery Professor at Harvard MedicalSchool (HMS), and President of the Children’s Hospital Pediatric Associates. ASCEND Online and KOALA In-Person Natural History Study Updates Understanding KAND and the progression of the disease informs our path to treatment.
The accuracy of these scores has improved for some diseases and groups of people, but they continue to fall short for those of non-European ancestry, mainly because the genetic datasets used to calculate these scores have largely come from people of European ancestry.
More recently, they are focusing on proteins to understand the biological events in cancer cells that lead to disease. With this approach, the team uncovered patterns in protein modifications linked to cancer-related processes such as DNA repair. Zamecnik Chair in Oncology at the Massachusetts General Hospital Cancer Center.
Unlike almost every other cell type (except B cells), T cells do not have the exact same chromosomal DNA sequences as other cells in the body. This produces a great advantage in infectious disease, as it becomes difficult for a virus to adapt and spread from person to person, because each person’s HLA array is genetically distinct.
Today, she is a senior associate computational biologist in the Getz lab, where she applies computational techniques to DNA and RNA sequencing data to analyze rapid autopsy samples, taken from multiple sites throughout the body at the time of a cancer patient’s death. I love that in all forms of science, you solve problems.
Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development. By talking to groups with these mutations, we may identify other diseases whose patients have KIF1A variants. She graduated from UC San Diego with a B.S.
5, 2020 — A pair of new gene therapies promise a potentially lasting cure for sickle cell disease by subtly altering the genetic information in patients’ bone marrow cells, researchers report. She’s a pediatric hematology-oncology specialist at Cohen Children’s Medical Center in New Hyde Park, N.Y.
In the new microbes’ DNA, the researchers found hundreds of novel genes that may offer clues to how enterococci are able to resist antibiotic treatment and thrive in the hospital environment. The findings could one day help monitor the emergence of new drug-resistant threats or highlight possible ways to prevent or treat those infections.
Scientists from the Massachusetts Institute of Technology (MIT) and the University of Massachusetts MedicalSchool (UMass), US, have collaborated to create a novel type of nanoparticle that can deliver messenger RNA that encodes for beneficial proteins to the lungs.
STING is primarily on the lookout for DNA, which can indicate either a foreign invader such as a virus or damage to the host tissue or cell. Now, a team of MIT, Massachusetts General Hospital (MGH), Broad Institute of MIT and Harvard, and Harvard MedicalSchool (HMS) researchers has discovered how STING activates those two pathways.
Researchers from Harvard MedicalSchool describe a new ChatGPT-like model that can guide clinical decision-making to diagnose, treat, and predict survival for several types of cancer. Analyzing DNA patterns using AI may replace time-consuming process DNA and genomic sequencing tests, Yu said.
Crichton had an MD from Harvard MedicalSchool, but he never practiced medicine. Unforgettably, my daughter Heather threw up on the volcano, an early sign of gallbladder disease and to this day, her claim to fame. A plant genome consists of DNA, and NOT pieces of 2,4-D, which is a completely unrelated organic acid.
In addition to rare genetic diseases, talks at the Festival will address Crohn’s disease, rheumatoid arthritis, polycystic ovarian syndrome, and neurological disease and cancers. What steps should researchers take when attempting to acquire DNA samples from modern descendants? From people who have died?”
The results add to our understanding of the development of BPDCN, which is critical to devising new and better treatments for the disease," he continues. To better understand this process, researchers did a deep dive into the genetics of patients' bone marrow, blood, and skin leukemia cells – sequencing the DNA and RNA in individual cells. "We
DNA sequences are designed on a computer, and it takes a dozen or more clicks to change a single nucleotide. DNA sequences are also checked by hand, so it’s easy to make a mistake. The tool outputs a DNA sequence that encodes all the required enzymes. Anyone who has tried to engineer a cell knows how tedious it can be.
DNA sequences are designed on a computer, and it takes a dozen or more clicks to change a single nucleotide. DNA sequences are also checked by hand, so it’s easy to make a mistake. The tool outputs a DNA sequence that encodes all the required enzymes. Anyone who has tried to engineer a cell knows how tedious it can be.
During the process of transformation from a normal cell into a cancer cell, a cell acquires a series of changes, or mutations, in its DNA. But DNA mutations can also result in changes to the proteins that are displayed on the surface of the cancer cell.
Genomics applies to all species, revealing evolution in action, because we all use the same genetic code – that is, the correspondence between DNA sequences and the amino acid sequences of proteins. Cats and Bird Flu Comparing DNA sequences is a little like linguistic research that connects languages.
However, in a recent study using sheep , a team at the University of Michigan MedicalSchool found that a nitric-oxide-rich ECMO circuit allowed them to operate an artificial womb without blood thinners. Finally, transferring the baby to the artificial womb poses several challenges.
By Leah Eisenstadt March 6, 2025 Credit: Susanna Hamilton, Broad Communications Atrial fibrillation is a common arrhythmia that can lead to heart disease and stroke. Over the past two decades, researchers have conducted genome-wide association studies to identify common DNA changes that raise the risk for developing AF.
We know that living with a rare disease can be an overwhelming and isolating journey. The earlier a disease is identified the earlier a family can find appropriate treatment, which can save lives and have profound impacts on quality of life. of participants, making a case that newborn sequencing is feasible and useful.
A clinical genomicist harnesses team-based science to help rare-disease patients By Allessandra DiCorato January 7, 2025 Breadcrumb Home A clinical genomicist harnesses team-based science to help rare-disease patients Heidi Rehm convinced labs and scientists to work together and share data.
By Allessandra DiCorato January 16, 2025 Credit: Scott Sassone, Broad Communications Tara McDonald (left) and Steve McCarroll (right) are coauthors of a new paper describing a biological mechanism underlying Huntington's disease. The researchers found that DNA tracts with 40 or more CAG repeats grow until they are hundreds of repeats long.
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. In IDH-driven gliomas, the mutated IDH enzyme fosters the addition of methyl groups to the cells’ DNA.
I didn’t learn about them until the summer of 2010, when in examining my motivations to pursue a career in biomedical research, I started looking for explanations behind my mother’s disease. Today, decades after the invention of DNA sequencing, it is easy to take the accessibility of genomic data for granted.
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