ACMG issues new Points to Consider statement on potential clinical application of genome editing
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  February 8, 2017  
  Genetics  
  The latest Genetics news from News Medical  
 ACMG issues new Points to Consider statement on potential clinical application of genome editingACMG issues new Points to Consider statement on potential clinical application of genome editing
 
The American College of Medical Genetics and Genomics is weighing in on the genome editing/CRISPR debate with a new Points to Consider statement, "Genome Editing in Clinical Genetics."
 
 
 New gene therapy for Pompe disease may replace currently available treatmentsNew gene therapy for Pompe disease may replace currently available treatments
 
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.
 
   Novel gene therapy restores partial hearing and balance in mice born with genetic deafnessNovel gene therapy restores partial hearing and balance in mice born with genetic deafness
 
Using a novel form of gene therapy, scientists from Harvard Medical School and the Massachusetts General Hospital have managed to restore partial hearing and balance in mice born with a genetic condition that affects both.
 
   Genes implicated in rare pediatric epilepsy contribute to common forms of disorder, study findsGenes implicated in rare pediatric epilepsy contribute to common forms of disorder, study finds
 
An international study led by Columbia University Medical Center and NewYork-Presbyterian researchers has found that several genes previously implicated only in rare, severe forms of pediatric epilepsy also contribute to common forms of the disorder.
 
   Researchers explore ins and outs of genome sequencing in newbornsResearchers explore ins and outs of genome sequencing in newborns
 
When you have a baby, a nurse or a phlebotomist performs a heel stick to take a few drops of blood from your infant and sends it off to a state lab for a battery of tests.
 
 Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls
 
Gene Targets for in Utero Therapy in Down Syndrome: Potentials and PitfallsEvery year, 5,300 new babies are born in the US with Down Syndrome (DS). These children face lifelong cognitive disability along with a number of life threatening medical issues including cardiovascular malformations and hematopoietic malignancies.
 
 
 Tools and technologies for a genomics revolution
 
Tools and technologies for a genomics revolutionWhen scientists announced the completion of the Human Genome Project in 2003, it was hailed as a major scientific achievement. For the first time, we had a complete sequence for the human genome – every one of the more than three billion nucleotide bases.
 
 
 Genetic makeup of social partners influences health, mice study shows
 
Genetic makeup of social partners influences health, mice study showsResearchers at the European Bioinformatics Institute (EMBL-EBI) have shown that the health of individual mice is influenced by the genetic makeup of their partners. Their findings, published in PLOS Genetics, indicate that research into genetics and disease should include the genotypes of both individuals and their partners.
 
 
 Scientists restore partial hearing and balance in deaf mice using new gene therapy
 
Scientists restore partial hearing and balance in deaf mice using new gene therapyUsing a novel form of gene therapy, scientists from Harvard Medical School and the Massachusetts General Hospital have managed to restore partial hearing and balance in mice born with a genetic condition that affects both.
 
 
 Scientists develop unique method to fix genes in living organisms
 
Scientists develop unique method to fix genes in living organismsA unique gene-editing method that efficiently inserts DNA into genes located in dividing and non-dividing cells of living rats has been developed by a team of international researchers, including scientists from KAUST.
 
 
 Missing gene may cause kidney and urinary tract defects in people with DiGeorge syndrome
 
Missing gene may cause kidney and urinary tract defects in people with DiGeorge syndromeLoss of function of the CRKL gene causes kidney and urinary tract defects in people with DiGeorge syndrome, a multinational team of scientists led by Columbia University Medical Center has found.
 
 
 Genetic testing at UMMC helps doctors identify effective medication for heart stent patients
 
Genetic testing at UMMC helps doctors identify effective medication for heart stent patientsThe University of Maryland Medical Center is now offering a simple genetic test to patients who receive heart stents to determine whether they have a genetic deficiency that affects how they respond to a common drug to prevent blood clots.
 
 
 GIANT study uncovers new, rare DNA changes that affect human height
 
In the largest, deepest search to date, the international Genetic Investigation of Anthropometric Traits Consortium has uncovered 83 new DNA changes that affect human height.
 
 
 Novel potassium channel genes could be promising therapeutic targets for alcohol use disorder
 
A handful of FDA-approved drugs exist for treating individuals with alcohol use disorder but they have been largely ineffective at reducing the high rates of relapse. As such, there remains a critical need to identify and develop alternative pharmacological treatment options.
 
 
 CSHL scientists create first model of genetically induced obesity in fruit flies
 
CSHL scientists create first model of genetically induced obesity in fruit fliesWhy do people become obese? Poor dietary choices and overeating seem like clear causes, but what is at the root of these behaviors? Significantly overweight people may be genetically predisposed to be affected disproportionately when faced with the ready availability of calorie-laden treats.
 
 
 NovaSeq, the new sequencer by Illumina, said to transform the field of genomics
 
NovaSeq, the new sequencer by Illumina, said to transform the field of genomicsIllumina, Inc., the global leader in next-generation sequencing technology, today introduced the NovaSeqTM Series, a new and scalable sequencing architecture expected one day to enable a $100 genome. Unveiled at the J.P. Morgan Healthcare Conference, this platform redefines high throughput sequencing with unrivaled throughput, ease of use, low per sample costs, and unmatched flexibility.
 
 
 Scientists unravel new genetic immunodeficiency that makes children vulnerable to mild illnesses
 
Scientists unravel new genetic immunodeficiency that makes children vulnerable to mild illnessesA team of scientists led by prof. Adrian Liston and prof. Isabelle Meyts were able to characterize a new genetic immunodeficiency resulting from a mutation in a gene named STAT2.
 
 
 Integration of Genedata Screener with Nanion SyncroPatch 384PE can take APC experiments to new level
 
Genedata, a leading provider of advanced software solutions for drug discovery and life science research, today announced new automated patch clamp (APC) functionality in Genedata Screener for Ion Channel Screening and a Genedata Ready-to-Run integration with Nanion SyncroPatch 384PE.
 
 
 Genetics and Susceptibility to Leprosy
 
Genetics and Susceptibility to LeprosyGenetic factors in leprosy involve the human leukocyte antigen (HLA) system as well as non-HLA genes. These genes affect the individual’s susceptibility to the disease, including bacillary transmission and clinical features. The chromosomes involved in these aspects include 6p21, 10p13, 17q22, and 20p13.
 
 
 Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity
 
Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguityA complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international group of researchers led by investigators at the Icahn School of Medicine at Mount Sinai.
 
 
 CeMM scientists develop new method by integrating CRISPR genome editing with single-cell sequencing
 
CeMM scientists develop new method by integrating CRISPR genome editing with single-cell sequencingGenome editing using CRISPR/Cas9 "gene scissors" is a powerful tool for biological discovery and for identifying novel drug targets.
 
 
 Scientists identify key 'survival gene' that reduces mutation rates in mycobacteria
 
Scientists have discovered a key 'survival gene' that prevents strains of tuberculosis (TB) from mutating into drug-resistant 'superbugs'.
 
 
 Scientists develop new method to accurately determine gene expression in single cells
 
At Baylor College of Medicine, scientists have developed a method that allows them to accurately determine the genes expressed in single cells.
 
 
 UT Southwestern scientists discover gene that protects gut from IBD
 
UT Southwestern scientists discover gene that protects gut from IBDUT Southwestern Medical Center researchers have identified a gene that protects the gut from inflammatory bowel disease.
 
 
 Scientists find new method for identifying therapeutic targets in cancers lacking tumor suppressor genes
 
A new method has been found for identifying therapeutic targets in cancers lacking specific key tumor suppressor genes.
 
 
 Researchers create first animal model of rare disease linked to problem of adrenal glands
 
The name of the gene is Armc5, for Armadillo repeat containing 5. Until now, its function was unknown. After 10 years of research, a team at the University of Montreal Hospital Research Centrehas succeeded in deleting this gene in experimental mice and discovered that its loss gives rise to a heretofore unidentified syndrome.
 
 
 Study looks at use of evolutionary triangulation to refine results from genetic studies of preterm birth
 
Study looks at use of evolutionary triangulation to refine results from genetic studies of preterm birthIn a study to be presented Thursday, Jan. 26, in the oral concurrent session at 1:15 p.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, researchers verified genetic results from one large study of women with spontaneous preterm birth, and highlighted 13 key genes in both mothers and babies which may be involved in preterm birth while also identifying 123 genes as top candidates for further study.
 
 
 Researchers explore how metastatic pancreatic cancer gets ‘reprogrammed’ for optimal malignancy
 
Researchers explore how metastatic pancreatic cancer gets ‘reprogrammed’ for optimal malignancyMetastatic pancreatic cancer -- cancer that has spread from the pancreas to other tissues and is responsible for most patient deaths -- changes its metabolism and is "reprogrammed" for optimal malignancy, according to new findings reported Jan. 16 in Nature Genetics.
 
 
 New MIP system for therapeutic gene delivery can enhance transgene expression using AAV vector
 
New MIP system for therapeutic gene delivery can enhance transgene expression using AAV vectorAdvanced engineering of a mini-intronic plasmid (MIP) system designed to carry a therapeutic gene can significantly enhance the expression of the transgene delivered using an adeno-associated viral (AAV) vector.
 
 
 Patients with early, severe depression symptoms have increased genetic risk for psychiatric disorders
 
Clinical features of major depressive disorder (MDD) may help identify specific subgroups of depressed patients based on associations with genetic risk for major psychiatric disorders, reports a study in Biological Psychiatry.
 
 
 Studies open new windows into understanding untreatable group of common genetic disorders
 
Studies open new windows into understanding untreatable group of common genetic disordersTwo Princeton University studies are opening important new windows into understanding an untreatable group of common genetic disorders known as RASopathies that are characterized by distinct facial features, developmental delays, cognitive impairment and heart problems.
 
 
 Lund researchers map entire methylome in insulin-producing pancreatic islets
 
Lund researchers map entire methylome in insulin-producing pancreatic isletsThroughout our lives, our genes are affected by the way we live. Diet, exercise, age and diseases create imprints that are stored in something called methylome.
 
 
 Researchers map genetic changes resulting from short bowel syndrome
 
Researchers map genetic changes resulting from short bowel syndromeInvestigators at Children's Hospital Los Angeles, led by Tracy C. Grikscheit, MD, have mapped the genetic changes resulting from short bowel syndrome using a novel zebrafish model and by performing intensive gene sequencing.
 
 
 Illumina and IBM join forces to grow accessibility to genome data interpretation
 
Illumina and IBM join forces to grow accessibility to genome data interpretationIBM Watson Health and Illumina, Inc. today announced a groundbreaking partnership to expand access to genome data interpretation by integrating Watson for Genomics into Illumina’s BaseSpace Sequence Hub and tumor sequencing process. The collaboration is designed to help standardize and simplify genomic data interpretation.
 
 
 Scientists discover gene that may open new door to developing treatments for Alzheimer's disease
 
Scientists discover gene that may open new door to developing treatments for Alzheimer's diseaseScientists at the Luxembourg Centre for Systems Biomedicine (LCSB) of the University of Luxembourg have identified a gene that may provide a new starting point for developing treatments for Alzheimer's disease (AD).
 
 
 COGENT scientists uncover genes responsible for cognitive ability
 
COGENT scientists uncover genes responsible for cognitive abilityAn international team of scientists, led by Todd Lencz, PhD, professor at The Feinstein Institute for Medical Research at Northwell Health and Hofstra Northwell School of Medicine, have unlocked some of the genes responsible for cognitive ability.
 
 
 Sapientia genome analysis software by Congenica could cut costs and save lives
 
Whole genome analysis (WGA) enables rapid diagnosis of rare disease, ensuring that an appropriate course of management and treatment can be administered, possibly within days for acute neonatal cases, cutting the cost of intensive care and potentially saving lives.
 
 
 New computer program helps discover 1000 new mutations in blood group genes
 
New computer program helps discover 1000 new mutations in blood group genes1000 new mutations in the blood group genes: that is what physician and former programmer Mattias Möller found in his research study in which he developed new software and investigated blood group genes in 2504 people.
 
 
 Researchers discover mutation hotspots that act like backseat drivers for breast cancer development
 
Researchers discover mutation hotspots that act like backseat drivers for breast cancer developmentResearchers at the Wellcome Trust Sanger Institute have discovered 'hotspots' of mutations in breast cancer genomes, where mutations thought to be inactive 'passengers' in the genome have now been shown to possibly drive further cancerous changes.
 
 
 Nicotine normalizes genetically-induced brain impairments linked to schizophrenia
 
Nicotine normalizes genetically-induced brain impairments linked to schizophreniaA steady stream of nicotine normalizes genetically-induced impairments in brain activity associated with schizophrenia, according to new research involving the University of Colorado Boulder.
 
 
 Defects in key gene spur breast and ovarian cancer growth, study shows
 
Defects in key gene spur breast and ovarian cancer growth, study showsDefects in a key gene - long thought to drive cancer by turning off the protection afforded by the well-known BRCA genes - spur cancer growth on their own, according to a study led by researchers from NYU Langone Medical Center.
 
 
 Next-generation sequencing assay shows accuracy, sensitivity in detecting genetic mutations in tumors
 
One of the most promising areas of cancer research is personalized therapy using precision medicine. The National Cancer Institute's NCI-MATCH is a large, ongoing clinical trial that matches tumors to therapies based on the tumor's genetic characteristics.
 
 
 Scientists use big data to create map linking breast cancer cell shape and genes
 
Scientists have created a 'map' linking the shape of breast cancer cells to genes turned on and off, and matched it to real disease outcomes, which could one day help doctors select treatments, according to a study published in Genome Research today (Wednesday).
 
 
 Study finds new links between human genome and inflammation tracers
 
Researchers from the Research Centre of Applied and Preventive Cardiovascular Medicine at the University of Turku, Finland, have studied over ten million DNA variations and found new links between the human genome and inflammation tracers.
 
 
 Mutated genes lead to tooth enamel defects that increase risk of caries
 
Mutated genes lead to tooth enamel defects that increase risk of cariesBacteria are not the sole cause of caries; tooth resistance also plays an instrumental role. Researchers from the University of Zurich demonstrate that mutated genes lead to defects in the tooth enamel and can therefore encourage the development of caries.
 
 
 Popularity of non-invasive prenatal testing increasing among pregnant women
 
Popularity of non-invasive prenatal testing increasing among pregnant womenGenetic counselors are playing a greater role in areas of medicine in the wake of advancement in genomic technology.
 
 
 NYU Langone scientists discover mechanism behind many disease-related genetic deletions
 
NYU Langone scientists discover mechanism behind many disease-related genetic deletionsScientists at NYU Langone Medical Center have discovered the mechanisms behind a genetic change known to cause a set of related diseases.
 
 
 Study provides insights into molecular mechanisms of ZIKV infection
 
Study provides insights into molecular mechanisms of ZIKV infectionZika virus (ZIKV) interferes with the cellular machinery controlling cell division and alters the expression of hundreds of genes guiding the formation and development of neurons and astrocytes, according to findings released on January 23rd 2017 at Scientific Reports.
 
 
 Melanoma research breakthrough opens up new pathways to treatment
 
Melanoma research breakthrough opens up new pathways to treatmentA QUT-driven project has identified the way in which melanoma cells spread, opening up new pathways to treatment via drugs to 'turn off' the invasive gene.
 
 
 Rice chemists synthesize new, improved contrast agents for real-time tracking of stem cells in the body
 
Rice chemists synthesize new, improved contrast agents for real-time tracking of stem cells in the bodyRice University researchers have synthesized a new and greatly improved generation of contrast agents for tagging and real-time tracking of stem cells in the body.