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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.
Causes of cancer are being catalogued by a huge international study revealing the genetic fingerprints of DNA-damaging processes that drive cancer development.
Researchers still do not fully understand why, in part because people of South Asian descent are largely underrepresented in genomic and cardiometabolic research. Researchers still do not fully understand why, in part because people of South Asian descent are largely underrepresented in genomic and cardiometabolic research.
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.
Little is known about what pathogens cause these infections, and so these “non-malarial febrile illnesses” (NMFI) often fly under the radar of infectious disease surveillance programs because researchers don’t know which pathogens to look for. Tags: Infectious Disease DNA sequencing RNA sequencing Nature Communications.
Study finds youth-onset diabetes is a genetically distinct form of the disorder By Claire Hendershot February 16, 2024 Breadcrumb Home Study finds youth-onset diabetes is a genetically distinct form of the disorder Researchers suggest diabetes exists in multiple forms on a spectrum of varying genetic factors and symptoms.
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. "We
But for decades, researchers have debated whether aneuploidy promotes the growth of cancers, or is simply a side effect of cancer cells’ fast growth. Such large-scale changes in DNA have been difficult to study. We found that these aneuploidies are being directly selected for or against depending on their impact on cancer cells.”
The family was instrumental in the research that led to the discovery and her diagnosis. 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.
Now, a team of researchers at the Broad Institute of MIT and Harvard along with Massachusetts General Hospital has found that microbes in the gut may affect cardiovascular disease as well. He is also a professor at Harvard MedicalSchool and Massachusetts General Hospital.
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.
After medicalschool and residency I decided to dedicate my life to women and specialised in obstetrics and gynaecology. I joined the pharmaceutical industry to leverage my passion and hands-on clinical experience to care for people all over the world by bringing a unique perspective to drug and device research and development.
Thanks in part to her research, more geneticists are now studying a wider diversity of people and accounting for genetic ancestry in their analyses. Through this work, Martin is showing how a methodical, data-driven kind of social justice can help improve equity in scientific research and lead to better science.
Their research – the first of its kind – suggests that the system can be utilized to address cancer in animals, according to Professor Dan Peer, whose peer-reviewed research was published in the Science Advances journal. Cas-9 represents the Cas9 protein, an enzyme that cuts foreign DNA. ” Source link.
Difficult-to-treat and rare, complicated cancers remain a perplexing challenge for IO researchers. Research has shown that these immune system proteins have the ability to trigger anti-cancer immune pathways. Currently he is Alkermes’ Oncology Fellow and Head of a Oncology Preclinical Research at the company. References: M; LWR.
To build the CLL map, the team analyzed variations in genetic sequences, gene expression patterns, and chemical modifications to DNA — or genomic, transcriptomic, and epigenomic data — from 1,148 patients. This work was supported by the National Institutes of Health and the Broad/IBM Cancer Resistance Research Project.
With hope, Angie Fuller, Director KIF1A.ORG Research and Therapeutic Development Until we find treatments and cures, our superheroes will continue to lose their hard-fought skills, abilities and even their lives. Your commitment and collaboration have been instrumental in our shared success. This is the fate of KAND unless we change it.
Researchers at the Broad Institute of MIT and Harvard are beginning to uncover genetic factors contributing to gestational hypertension and preeclampsia, two common HDPs. Buu Truong, a computational researcher and postdoctoral fellow in Natarajan’s lab, was a co-first author as well.
Three studies highlight how proteins are altered in multiple cancer types By Allessandra DiCorato August 14, 2023 Breadcrumb Home Three studies highlight how proteins are altered in multiple cancer types Researchers identify protein modifications that underlie many key cancer processes.
Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development. In this week’s article, researchers in Brazil identified a KIF1A mutation in a cohort of patients with congenital ataxia.
To recognize Joseph’s contributions of dozens of animal fecal samples to the study, the research team named the bacteria Enterococcus mansonii , an unlikely distinction for a physicist and farmer. Our findings may improve understanding of how resistance genes spread to hospital bacteria and threaten human health.”
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. In previous decades, isolation, sequencing and characterisation of DNA encoding a specific TCR was laborious and technically challenging. References Robinson R, McMurran C, McCully M, Cole D.
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. Tell us a bit about your research.
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.
The newly developed test could offer the capacity to discover and interpret variants across the fetal exome from DNA circulating in the mother’s blood. The method is referred to by the team as non-invasive fetal sequencing (NIFS).
A new approach from a team led by researchers in the Cardiovascular Disease Initiative at the Broad Institute of MIT and Harvard and at Massachusetts General Hospital (MGH) significantly improves the accuracy of genetic risk prediction of heart disease across all ancestries.
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. The study appears in Nature Biotechnology.
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. The researchers tested the model on 19 types of cancers, and validated the findings among several international patient groups.
Crichton had an MD from Harvard MedicalSchool, but he never practiced medicine. When Crichton died of cancer in 2008, he left behind a staggering trove of research about an eruption of Mauna Loa on the Big Island of Hawaii. TMV is a common pathogen used in early molecular biology research. He was too busy creating.
” Researchers, clinicians, and those working in drug discovery and development are welcome. George Church , who leads Synthetic Biology at the Wyss Institute and is the Robert Winthrop Professor of Genetics at Harvard MedicalSchool, will present another Fireside Chat. Front Line Genomics (FLG) is organizing the meeting.
Although it focused on a rare form of cancer – blastic plasmacytoid dendritic cell neoplasm (BPDCN) – the research may shed light on how other cancers develop, particularly those involving blood or lymph cells that travel the bloodstream to all corners of the body, investigators say.
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. SATURDAY, Dec. Selim Corbacioglu from the University of Regensburg, relies on CRISPR-Cas9 gene editing to switch off BCL11A.
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. Goodsell, Scripps Research and RCSB Protein Data Bank.
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. Goodsell, Scripps Research and RCSB Protein Data Bank.
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.
Several research groups are busily developing artificial wombs to replicate the basic life-support functions of the uterine environment for extremely premature infants — that is, babies born at or before 28 weeks of the typical 37-42 week pregnancy. All humans begin their lives in this sturdy chamber. At least for now.
Studies reveal new genetic roots of atrial fibrillation By Leah Eisenstadt March 6, 2025 Breadcrumb Home Studies reveal new genetic roots of atrial fibrillation Researchers double the number of genetic factors associated with this common arrhythmia, highlighting biological pathways that could be targeted by new medicines.
Your direct feedback is invaluable in guiding his work and strengthening collaboration within our research network to address our community’s symptoms and needs. Video Research enrollment numbers We added 13 additional patients and families to our Natural History Study last month! Email Angie at Angie@kif1a.org with any questions.
Scientists at the Broad Institute of MIT and Harvard, Harvard MedicalSchool, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntingtons disease leads to the death of brain cells. The cumulative death of many such cells leads to the symptoms of Huntingtons disease.
Researchers identify source of a brain cancer’s deadly transformation By Corie Lok November 21, 2024 Breadcrumb Home Researchers identify source of a brain cancer’s deadly transformation Slow-growing glioma tumors become more aggressive when their cells shift identities and acquire new genetic mutations.
These stories and diagnoses, made possible by clinical genomics labs around the world analyzing DNA from patients and sharing their findings with each other to improve medical care, werent always so common. Every genetic testing lab, every research study, everyone was experiencing this. Thats what makes her so convincing.
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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