Whole genome sequencing could help better understand genetic abnormalities underlying autism
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  October 18, 2017  
  Genetics  
  The latest Genetics news from News Medical  
 Whole genome sequencing could help better understand genetic abnormalities underlying autismWhole genome sequencing could help better understand genetic abnormalities underlying autism
 
An analysis of the complete genomes of 2,064 people reveals that multiple genetic variations could contribute to autism. The work suggests that scanning whole genomes may one day be useful for clinical diagnostics.Autism has genetic roots, but most cases can't be explained by current genetic tests.
 
 
 New study maps human genome to healthy tissue functions and disease processesNew study maps human genome to healthy tissue functions and disease processes
 
Our genomes help to determine who we are - the countless variations between individuals that encode the complexity of tissues and functions throughout the body.
 
   New study uncovers 13 previously-unknown genetic risk variants for restless legs syndromeNew study uncovers 13 previously-unknown genetic risk variants for restless legs syndrome
 
A new study into the genetics underlying restless legs syndrome has identified 13 previously-unknown genetic risk variants, while helping inform potential new treatment options for the condition.
 
   Primary Ciliary Dyskinesia GeneticsPrimary Ciliary Dyskinesia Genetics
 
Primary ciliary dyskinesia (PCD) is a congenital disorder of heterogeneous genetic origin. It is inherited in an autosomal recessive manner.
 
   Genes that determine skin color studied - new revelationsGenes that determine skin color studied - new revelations
 
Human populations vary vastly in skin tones. European populations have been studied and some of the genes that determine skin color have been found. A latest study in a varied African population has found the specific and new genetic variants that could determine skin color and skin pigmentation. The study report is published in the journal Science.
 
 Genetic diversity plays major role in evolution of drug resistance
 
Genetic diversity plays major role in evolution of drug resistanceResearchers have shown that genetic diversity plays a key role in enabling drug resistance to evolve. Scientists at the Wellcome Trust Sanger Institute and the Institute for Research on Cancer and Ageing of Nice in France, show that high genetic diversity can prime new mutations that cause drug resistance.
 
 
 FDA advisory committee vote 16-0 for first even gene therapy for rare blindness
 
FDA advisory committee vote 16-0 for first even gene therapy for rare blindnessA panel of advisors to the United States Food and Drug Administration (FDA) has voted unanimously in favor of an experimental gene therapy to treat patients with a rare kind of hereditary blindness.
 
 
 Scientists discover new non-genetic cause of resistance to anti-cancer therapies
 
Scientists discover new non-genetic cause of resistance to anti-cancer therapiesThe targeted anti-cancer therapies cetuximab and panitumumab are mainstays of treatment for advanced colorectal cancer, the second leading cause of cancer-related deaths in the United States.
 
 
 New model predicts how E. coli bacteria respond to temperature changes, genetic mutations
 
New model predicts how E. coli bacteria respond to temperature changes, genetic mutationsResearchers at the University of California San Diego have developed a genome-scale model that can accurately predict how E. coli bacteria respond to temperature changes and genetic mutations.
 
 
 New genomics study aims to evaluate effectiveness of blood test in detecting breast cancer
 
New genomics study aims to evaluate effectiveness of blood test in detecting breast cancerCancer researchers at Intermountain Medical Center and the Intermountain Precision Genomics Program in Salt Lake City are launching an exciting, new three-year study to determine if a blood test that looks for DNA from a cancer tumor can be used to complement mammography to improve the way breast cancer is diagnosed.
 
 
 Criminal offenders with genetic mental disorders assigned more blame, harsher punishment
 
Criminal offenders with genetic mental disorders assigned more blame, harsher punishmentPopular literature, crime dramas and recent trials dominating the media imply that defense attorneys who portray their clients as victims may have better outcomes.
 
 
 Surrogate liquid biopsy can provide genetic information about retinoblastoma tumors
 
Surrogate liquid biopsy can provide genetic information about retinoblastoma tumorsRetinoblastoma is a tumor of the retina that generally affects children under 5 years of age. If not diagnosed early, retinoblastoma may result in loss of one or both eyes and can be fatal. Unlike most cancers that are diagnosed using a biopsy, retinoblastoma tumors cannot be directly biopsied.
 
 
 Cascade of costs could push new gene therapy above $1 million per patient
 
Cascade of costs could push new gene therapy above $1 million per patientOutrage over the high cost of cancer care has focused on skyrocketing drug prices, including the $475,000 price tag for the country's first gene therapy, Novartis' Kymriah, a leukemia treatment approved in August.
 
 
 Novel gene expression signature assay could help enhance lymphoma management
 
Novel gene expression signature assay could help enhance lymphoma managementDiffuse large B-cell lymphoma (DLBCL) is an aggressive cancer and the most frequently diagnosed non-Hodgkin lymphoma worldwide (nearly 40% of cases). Recent advancements indicate that both the prognosis and choice of treatment of DLBCL may depend on identifying its molecular subtype.
 
 
 MIT researchers develop new technique to screen for genes that protect against diseases
 
MIT researchers develop new technique to screen for genes that protect against diseasesUsing a modified version of the CRISPR genome-editing system, MIT researchers have developed a new way to screen for genes that protect against specific diseases.
 
 
 TGen project to develop standard operating procedures for single-cell RNA sequencing
 
TGen project to develop standard operating procedures for single-cell RNA sequencingThe Translational Genomics Research Institute today announced grant support from the Chan Zuckerberg Initiative donor advised fund, an advised fund of the Silicon Valley Community Foundation, that will help revolutionize how researchers identify the genetic source of diseases and how best to treat each patient.
 
 
 Scientists receive critical funding to study treatments for three deadly cancers
 
Scientists receive critical funding to study treatments for three deadly cancersImmunotherapy for leukemia patients has been nothing short of a miracle. Now scientists hope to use that science and other forms of gene therapy to tackle three of the deadliest forms of cancer: glioblastoma (brain cancer), sarcoma (bone cancer) and ovarian cancer.
 
 
 Study provides insights into potential causes of spinal stenosis
 
Study provides insights into potential causes of spinal stenosisA new study published in the Journal of Orthopaedic Research indicates that certain genetic changes are linked with an increased risk of developing lumbar spinal stenosis, a narrowing of the open spaces in the lower spine that can lead to pain in the legs when individuals walk.
 
 
 UC biologists find link between paternal diet and offspring’s health
 
UC biologists find link between paternal diet and offspring’s healthDoctors long have stressed the importance of good nutrition for expectant mothers. Now biologists at the University of Cincinnati say the father's diet could play a similar role in the health of a baby.
 
 
 Mitochondrial DNA copy number appears to be predictive of sudden cardiac death, heart attacks
 
Mitochondrial DNA copy number appears to be predictive of sudden cardiac death, heart attacksJohns Hopkins researchers report that the level, or "copy number," of mitochondrial DNA--genetic information stored not in a cell's nucleus but in the body's energy-creating mitochondria--is a novel and distinct biomarker that is able to predict the risk of heart attacks and sudden cardiac deaths a decade or more before they happen.
 
 
 Researchers identify strategies to mitigate disturbed axonal transport in ALS patients
 
Researchers identify strategies to mitigate disturbed axonal transport in ALS patientsA team of researchers at VIB and KU Leuven used stem cell technology to generate motor neurons from ALS patients carrying mutations in FUS. They found disturbed axonal transport in these motor neurons, but also identified genetic and pharmacological strategies that mitigate this defect.
 
 
 CHLA and Keck Medicine of USC develop new liquid biopsy for tumor of the retina
 
CHLA and Keck Medicine of USC develop new liquid biopsy for tumor of the retinaRetinoblastoma is a tumor of the retina that generally affects children under 5 years of age. If not diagnosed early, retinoblastoma may result in loss of one or both eyes and can be fatal. Unlike most cancers that are diagnosed using a biopsy, retinoblastoma tumors cannot be directly biopsied.
 
 
 Primary Ciliary Dyskinesia
 
Primary Ciliary DyskinesiaPrimary ciliary dyskinesia (PCD) is a congenital disorder of children, caused by a variety of genetic mutations. It is thus a heterogeneous disorder, with the same clinical manifestations being capable of being caused by multiple causes. It is associated with autosomal recessive mutations in several different genes.
 
 
 Research finds higher rates of cancer in world's ‘better’ countries
 
Research finds higher rates of cancer in world's ‘better’ countriesThe world's "better" countries, with greater access to healthcare, experience much higher rates of cancer incidence than the world's "worse off" countries, according to new research from the University of Adelaide.