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Genetics

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Science

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Genetics, Genome, UAH, University of Alabama in Huntsville, Encode, National Institutes of Health, National Human Genome Research Institute (NHGRI), gene mapping

UAH, HudsonAlpha Team as Part of National $31.5 Million Genetics Effort

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Research by The University of Alabama in Huntsville (UAH) and HudsonAlpha Institute for Biotechnology will help scientists can better understand how our cells work. The research is part of a four-year, $31.5 million National Institutes of Health (NIH) Encyclopedia of DNA Elements (ENCODE) Project.

Medicine

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Giant Study Finds Rare, but Influential, Genetic Changes Related to Height

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International study of more than 750,000 people probes deeper into height than ever before

Medicine

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Genetics, Height, Precision Medicine

Understanding the Genetics of Human Height

A large-scale international study involving more than 300 researchers, published today in Nature, heralds the discovery of 83 genetic variations controlling human height. To discover the 83 genetic variations, the research team measured the presence of 250,000 genetic variations in the study’s 700,000 participants – an enormous job. This study paves the way for precision medicine.

Medicine

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Cancer, Genetics, Drug Development

Potential New Drug Class Hits Multiple Cancer Cell Targets, Boosting Efficacy and Safety

In a new paper published this week in PNAS, researchers at the University of California San Diego School of Medicine and Moores Cancer Center, in collaboration with colleagues at Rady Children’s Hospital-San Diego, the University of Colorado School of Medicine and SignalRx, a San Diego-based biopharmaceutical company, describe a potential new class of anti-cancer drugs that inhibit two or more molecular targets at once, maximizing therapeutic efficiency and safety.

Science

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Immunotherapy, immunome, immuno-oncology

Cancer Research Institute Awards Grant to Develop Powerful Genomic Data Resource for Cancer Immunotherapy Researchers

Three nonprofits partner to create powerful database that will aim to improve immunotherapy for many types of cancer.

Medicine

Science

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BIRD Foundation, Gene Editing, NovellusDx, Christiana, Israeli biotech, Israeli medical research, Israeli biotech funding, Israeli medical funding, IIA

Personalized Cancer Therapy on the Horizon Thanks to New Genomic Cancer Research Partnership

Gene Editing Institute at Christiana Care Health System partners with NovellusDx in BIRD Foundation Grant

Science

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Biology, Evolution, Biodiversity, Genetics, Species

Genomic Tools for Species Discovery Inflate Estimates of Species Numbers, U-Michigan Biologists Contend

Increasingly popular techniques that infer species boundaries in animals and plants solely by analyzing genetic differences are flawed and can lead to inflated diversity estimates, according to a new study from two University of Michigan evolutionary biologists.

Medicine

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Gender, Genetics, Pediactrics, Parenting

Researchers Decode Rare Form of Adrenal Gland Genetic Disorder Linked to Gender Ambiguity

Postnatal screening and treatment may prevent females from being raised as males.

Medicine

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Rett Syndrome, Gene, Gene Silencing, Autism Spectrum Disorder

Scientists Uncover Possible Therapeutic Targets for Rare Autism Spectrum Disorder

Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder.

Medicine

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Cancer, Genomics, crowd-sourcing, Civic, Mutations

Online Database Aims to Collect, Organize Research on Cancer Mutations

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Researchers at Washington University School of Medicine in St. Louis have developed an online “knowledgebase” intended for the gathering and organization of cancer genomic information so that clinicians have improved chances of identifying important mutations in a patient’s tumor and potentially connecting genetic errors with drugs known to target them. The online resource, called CIViC, is described Jan. 30 in Nature Genetics.

Medicine

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Gene-delivery Therapy, Hearing, DEAF, Genetic form of deafness, Inner ear hair cells, Missing gene in hearing, Gene Therapy, Hair Cells, Hard Of Hearing, partial hearing loss, Hearing Loss, Restoring Hearing, Hearing Impairment, Exosomes, exo-AAV, Restoring hearing in mice

A Better Carrier

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• Harvard Medical School scientists and colleagues from the Massachusetts General Hospital have partly restored hearing in mice with a genetic form of deafness. • Scientists altered a common virus, enhancing its ability to enter hair cells in the inner ear that are critical for hearing and to deliver a missing gene essential for hearing and balance. • The new approach overcomes a longstanding barrier to gene therapy for inherited and acquired deafness.

Medicine

Science

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Penn Computational Geneticist Receives Presidential Early Career Award for Scientists and Engineers

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Benjamin F. Voight, PhD, an assistant professor of Systems Pharmacology and Translational Therapeutics and of Genetics in the Perelman School of Medicine at the University of Pennsylvania, has received the Presidential Early Career Award for Scientists and Engineers.

Medicine

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Duke Health, Duke University School of Medicine, Gene Therapy, Pompe Disease, Glycogen Storage Disease, Orphan Diseases, Genetic Diseases, Enzyme Replacement Therapy (Ert), Enzyme Reactions, Genzyme, immune suppression

Gene Therapy for Pompe Disease Effective in Mice, Poised for Human Trials

After decades investigating a rare, life-threatening condition that cripples the muscles, Duke Health researchers have developed a gene therapy they hope could enhance or even replace the only FDA-approved treatment currently available to patients. The therapy uses a modified virus to deliver a gene to the liver where it produces GAA, an enzyme missing in people with Pompe disease.

Medicine

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DiGeorge Syndrome Kidney Problems May Be Caused By Missing Gene

A research team led by Columbia University has discovered that loss of function of the CRKL gene causes kidney and urinary tract defects in people with DiGeorge syndrome, solving a 60-year-old medical mystery.

Medicine

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Social Environment, Health, mice

Social Environment Has a Sizable Impact on Health and Disease in Mice

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In humans, social factors may explain ‘missing heritability’ in complex diseases.

Science

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Telomere, telomere length, Aging, Health, Diarrheal Disease, Infection, Public Health, Epidemiology, Population Studies, Correlation

'Protective' DNA Strands Are Shorter in Adults Who Had More Infections as Infants

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New research indicates that people who had more infections as babies harbor a key marker of cellular aging as young adults: the protective stretches of DNA which "cap" the ends of their chromosomes are shorter than in adults who were healthier as infants.

Medicine

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Newborn, Newborn Screening, Pediactrics, Child Health, Genetic Testing

New RTI International Program to Offer Free Elective Genetic Testing for North Carolina Newborns

A new program offering free elective genetic testing for newborns, developed at RTI International, will become available to North Carolina parents starting in 2018, thanks to a grant from the National Institutes of Health.

Medicine

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SBS, Short Bowel Syndrome, NEC, Necrotizing Enterocolitis, Gene Expression and Regulation, Bile Acid

Short Bowel Syndrome Results in Changes to Gene Expression

Investigators at Children’s Hospital Los Angeles, led by Tracy C. Grikscheit, MD, have mapped the genetic changes resulting from short bowel syndrome (SBS) using a novel zebrafish model and by performing intensive gene sequencing. This approach to determining which genes are markedly over or under expressed in SBS may assist scientists in developing future therapies for children and adults with this condition.

Science

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Paleontology, Evolution, Lizard, new species, Cretaceous Period, Paleoecology, Fossil

Prized Fossil Find — the Oldest, Most Complete Iguanian in the Americas — Illuminates the Lives of Lizards in the Age of Dinosaurs

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Paleontologists at the University of Washington, picking through a bounty of fossils from Montana, have discovered something unexpected — a new species of lizard from the late dinosaur era, whose closest relatives roamed in faraway Asia.

Science

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Genetics

Watching Gene Editing at Work to Develop Precision Therapies

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MADISON, Wis. — University of Wisconsin-Madison engineers have developed methods to observe gene editing in action, and they’re putting those capabilities to work to improve genetic engineering techniques.







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