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Medicine

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Cells, Self Repair, Cells Self Repair, Geneticist, 2017 Breakthrough Prize, Harvard Medical School, Stephen J. Elledge , DNA, Biology

Geneticist Stephen J. Elledge Wins Breakthrough Prize

Stephen Elledge, the Gregor Mendel Professor of Genetics and of Medicine at Brigham and Women’s Hospital and Harvard Medical School, has been named a 2017 recipient of the Breakthrough Prize, which recognizes paradigm-shifting discoveries in the life sciences, physics and mathematics.  Elledge is being honored for his wide-ranging contributions across multiple fields in biology.

Medicine

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Hemophilia, Gene Therapy, Hemophilia B, Clinical Trial, clotting factor IX, Children's Hospital Of Philadelphia

After One Dose of Gene Therapy, Hemophilia B Patients Maintain Near-Normal Levels of Clotting Factor

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Researchers are reporting the highest and most sustained levels to date of an essential blood-clotting factor IX in patients with the inherited bleeding disorder hemophilia B. After receiving a single dose of an experimental gene therapy in a clinical trial, patients with hemophilia produced near-normal levels of clotting factor IX, allowing them to stop clotting factor infusions and to pursue normal activities of daily life without disabling bleeding episodes.

Science

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Leukemia, t-MNs, clonal hematopoiesis, Genomic Medicine, MD Anderson Cancer Center

Biomarker May Predict Which Formerly Treated Cancer Patients Will Develop Highly Fatal Form of Leukemia

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Patients successfully treated for breast, colon and other cancers can go on to develop an often-fatal form of leukemia, sometimes years after completion of treatment, due to a genetic mutation leading to secondary malignancies known as therapy-related myeloid neoplasms (t-MNs).

Medicine

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genetics and autism

Landmark Autism Genetic Study Seeking Participants

Families with a loved one on the autism spectrum now have an opportunity to participate in a landmark study researching the genetics of autism. The national study is the largest autism research project to date.

Medicine

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Cancer, Fausto J. Rodriguez, genes, Tumors, Telomerase

Johns Hopkins Researchers Uncover More Genetic Links to Brain Cancer Cell Growth

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Two recently discovered genetic differences between brain cancer cells and normal tissue cells — an altered gene and a snippet of noncoding genetic material — could offer clues to tumor behavior and potential new targets for therapy, Johns Hopkins scientists report.

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Penn Scientists Use CRISPR for First Time to Correct Clotting in Newborn and Adult Mice

CRISPR/Cas9, a powerful genome editing tool, is showing promise for efficient correction of disease-causing mutations. For the first time, researchers have developed a dual gene therapy approach to deliver key components of a CRISPR/Cas9-mediated gene targeting system to mice to treat hemophilia B.

Science

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Diabetes, Insulin, Platypus, Echidna, Monotreme, GLP-1, glucagon-like peptide 1, Blood Sugar, diabetes treatment, Genetics, Evolution, Venom

Platypus Venom Could Hold Key to Diabetes Treatment

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Australian researchers have discovered remarkable evolutionary changes to insulin regulation in two of the nation's most iconic native animal species – the platypus and the echidna – which could pave the way for new treatments for type 2 diabetes in humans.

Medicine

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β-Klotho gene , DNA, social drinking, Alchohol, Ut Southwestern, Gene

UT Southwestern Researchers’ International Study Zeros in on Gene That Limits Desire to Drink Alcohol

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In the largest study of its kind, UT Southwestern Medical Center researchers and colleagues in Europe identified a gene variant that suppresses the desire to drink alcohol.

Science

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Microbiome

Genes, Early Environment Sculpt the Gut Microbiome

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A new study finds that environment and genetics determine relative abundance of specific microbes in the gut. The findings represent an attempt to untangle the forces that shape the gut microbiome, which plays an important role in keeping us healthy.

Medicine

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Biomedicine, Gastroenterology, enteritis, Autoimmune Disease, Melanoma, chronic inflammation, Diarrhea

Successfully Treating Genetically Determined Autoimmune Enteritis

Using targeted immunotherapy, doctors have succeeded in curing a type of autoimmune enteritis caused by a recently discovered genetic mutation. This report comes from researchers at the Department of Biomedicine of the University of Basel and University Hospital Basel. Their results raise new possibilities for the management of diarrhea, which is often a side effect of melanoma treatment.

Medicine

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Parkinson's Disease, Gene Mutation

Gene Mutation Linked to Early Onset of Parkinson’s Disease in Caucasians

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A defect in a gene that produces dopamine in the brain appears to accelerate the onset of Parkinson’s disease, according to new research from Iowa State University. The effect is particularly dramatic for young-to-middle-age adults.

Medicine

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Acute Myeloid Leukemia (AML), Tp53 Gene, Decitabine, targeted chemotherapy

In Highly Lethal Type of Leukemia, Cancer Gene Predicts Treatment Response

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Patients with the most lethal form of acute myeloid leukemia (AML) – based on genetic profiles of their cancers – typically survive for only four to six months after diagnosis, even with aggressive chemotherapy. But new research indicates that such patients, paradoxically, may live longer if they receive a milder chemotherapy drug.

Medicine

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Genetics, Microbiome, gut flora, Animal Research, mice, Cells

Gut’s Microbial Community Shown to Influence Host Gene Expression

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Writing online this week (Nov. 23, 2016) in the journal Molecular Cell, a team of researchers from the University of Wisconsin-Madison describes new research helping tease out the mechanics of how the gut microbiome communicates with the cells of its host to switch genes on and off. The upshot of the study, another indictment of the so-called Western diet (high in saturated fats, sugar and red meat), reveals how the metabolites produced by the bacteria in the stomach chemically communicate with cells, including cells far beyond the colon, to dictate gene expression and health in its host.

Medicine

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Genetics, Mental Health, Psychiatry, Molecular Biology, Schizophrenia, Genome-wide study

Largest Study of Its Kind Finds Rare Genetic Variations Linked to Schizophrenia

Genetic variations that increase schizophrenia risk are rare, making it difficult to study their role. To overcome this, the Psychiatric Genomics Consortium, an international team led by Jonathan Sebat, PhD, at University of California San Diego School of Medicine, analyzed the genomes of more than 41,000 people in the largest study of its kind to date. Their study, published November 21 in Nature Genetics, reveals regions of the genome where mutations increase schizophrenia risk.

Medicine

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Acute Lymphoblastic Leukemia, Philadelphia chromosome , tyrosine kinase inhibitor, Pathology, Journal Of Clinical Oncology, Genomic, genetic alteration

Prevalence of Ph-Like ALL in Adults Underscores Need for Genetic Testing, Clinical Trials

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International research led by St. Jude Children’s Research Hospital shows the high-risk subtype Ph-like ALL accounts for almost 25 percent of ALL cases in adults and may be treatable with available targeted therapies.

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Expression of Specific Gene Differentiates Moles From Melanoma

A new study found that decreased levels of the gene p15 represents a way to determine if a nevus, or mole, is transitioning to a melanoma. The protein p15 functions to inhibit nevus cell proliferation.

Medicine

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genetic abnormality, Genomics, Genetic Screening, Genetic Counseling, Henrietta Lacks, HeLa cells, newborn health, Newborn Screening, Privacy

Newborn Screening Practices, Issue of Genetic Ownership Examined

While newborn screening is one of the national public health services that has transformed preventive healthcare, there are certain ethical and legal concerns about what happens to the babies’ genetic information beyond the tests.

Science

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Bacteria, Genetics, Biological and Environmental Research, biological and environmental sciences, Escherichia Coli, Harvard University, Science, Genome, Codons, biologically inspired engineering, Proteins, rewriting genetic code, Bacterium, Genetic Code

Scientists Rewrite Bacteria’s Genetic Code

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By recoding bacterial genomes such as E. coli, it is possible to create organisms that can potentially synthesize products not commonly found in nature.

Medicine

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Cancer, NCI, National Cancer Institute, NIH Award, NIH, National Institiutes Of Health, genetic, Epigenetic, TCGA, The Cancer Genome Atlas, Van Allen Probes mission, , Cedars Sinai

Van Andel Research Institute, Cedars-Sinai Awarded National Cancer Institute Grant for Epigenomic Data Analysis

Van Andel Research Institute (VARI), in collaboration with Cedars-Sinai, has received a $2.5 million, five-year grant from the National Cancer Institute (NCI), part of the National Institutes of Health, that will fuel efforts by investigators to uncover the underpinnings of cancer, ultimately helping scientists develop better diagnostic and treatment strategies for a class of diseases that claim more than eight million lives each year worldwide.

Medicine

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Large-Scale Cancer Gene Profiling Is Feasible but Faces Barriers

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Researchers leading the largest genomic tumor profiling effort of its kind say such studies are technically feasible in a broad population of adult and pediatric patients with many different types of cancer.







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