Researchers discover genetic bases of Opitz C syndrome
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  March 15, 2017  
  Genetics  
  The latest Genetics news from News Medical  
 Researchers discover genetic bases of Opitz C syndromeResearchers discover genetic bases of Opitz C syndrome
 
Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world.
 
 
 Researchers identify new gene that can lead to sudden death among young peopleResearchers identify new gene that can lead to sudden death among young people
 
Researchers from Canada, South Africa and Italy have identified a new gene that can lead to sudden death among young people and athletes.
 
   Researchers complete design phase for fully synthetic yeast genomeResearchers complete design phase for fully synthetic yeast genome
 
Working as part of an international research consortium, a multidisciplinary team at The Johns Hopkins University has completed the design phase for a fully synthetic yeast genome.
 
   Scientists find evidence for gene that may be linked to social phobiaScientists find evidence for gene that may be linked to social phobia
 
People with social anxiety avoid situations in which they are exposed to judgment by others. Those affected also lead a withdrawn life and maintain contact above all on the Internet.
 
   Swansea University experts assess contribution of ultra-rare genetic variation in common epilepsiesSwansea University experts assess contribution of ultra-rare genetic variation in common epilepsies
 
Despite progress in understanding the genetics of rare childhood epilepsies, the common adult forms of epilepsy have proven less amenable to traditional gene-discovery analyses.
 
 Study findings could lead to novel therapies for preventing vision loss from degenerative retinal diseases
 
Study findings could lead to novel therapies for preventing vision loss from degenerative retinal diseasesSilencing a gene called Nrl in mice prevents the loss of cells from degenerative diseases of the retina, according to a new study.
 
 
 GeneGnome XRQ Chemiluminescence Imaging System from Syngene
 
GeneGnome XRQ Chemiluminescence Imaging System from SyngeneThe new GeneGnomeXRQ is dedicated to chemiluminescence imaging. This system is built for high performance and automation and now features a next generation high quantum efficiency Syngene CCD camera for even greater sensitivity.
 
 
 Study traces molecular roots of uterine carcinosarcoma using genomic, proteomic analyses
 
Study traces molecular roots of uterine carcinosarcoma using genomic, proteomic analysesResearchers have charted the complex molecular biology of uterine carcinosarcoma, a rare and aggressive gynecologic cancer, according to a study published on March 13 in Cancer Cell.
 
 
 Defect in non-coding DNA could give rise to language impairments in children
 
Defect in non-coding DNA could give rise to language impairments in childrenThe human genome is made up of ~3 billion letters of DNA and at each position it is possible to have different letters, called variants. Some variants are harmless but others can be detrimental, making it a mammoth task to find out which variants cause a disorder.
 
 
 SETD8 enzyme protects against cellular senescence, research reveals
 
SETD8 enzyme protects against cellular senescence, research revealsAn enzyme that blocks cellular senescence and its mechanisms has been discovered by a research team from Kumamoto University, Japan. They found that a reduction of the enzyme SETD8, which regulates cell proliferation and gene function, results in the promotion of cell aging features.
 
 
 Study offers new insights into biological causes of premature baldness in men
 
Study offers new insights into biological causes of premature baldness in menShort men may have an increased risk of becoming bald prematurely. An international genetic study under the leadership of the University of Bonn at least points in this direction.
 
 
 Researchers reveal hereditary nature of bilateral tinnitus
 
Researchers reveal hereditary nature of bilateral tinnitusResearchers have been able to demonstrate the hereditary nature of certain forms of tinnitus. Bilateral tinnitus - that is, tinnitus in both ears - has been shown to depend on genetic factors, particularly in men.
 
 
 York researchers move closer to finding new treatments for chronic bladder diseases
 
York researchers move closer to finding new treatments for chronic bladder diseasesUsing human cells, they have mapped how different proteins bind along the DNA to control which genes are active during barrier formation.
 
 
 Scientists create first model of anorexia nervosa using iPSCs derived from adolescent females
 
Scientists create first model of anorexia nervosa using iPSCs derived from adolescent femalesAn international research team, led by scientists at University of California San Diego School of Medicine, has created the first cellular model of anorexia nervosa (AN), reprogramming induced pluripotent stem cells (iPSCs) derived from adolescent females with the eating disorder.
 
 
 Study finds higher prevalence of arthritis in recent generations
 
Study finds higher prevalence of arthritis in recent generationsIn an analysis of the Canadian population born between the 1930s and 1960s, each succeeding generation had a higher prevalence of arthritis.
 
 
 Researchers explore genomic underpinnings of obesity in continental Africans and African-Americans
 
Researchers explore genomic underpinnings of obesity in continental Africans and African-AmericansAn international team of researchers has conducted the first study of its kind to look at the genomic underpinnings of obesity in continental Africans and African-Americans.
 
 
 Seven facts about malignant hyperthermia that can help avoid dangerous consequences during surgery
 
Seven facts about malignant hyperthermia that can help avoid dangerous consequences during surgeryWhen general anesthesia is required for surgery or another procedure, a patient's care team must be ready for anything—especially the rare, life-threatening syndrome known as malignant hyperthermia.
 
 
 New research reveals link between sickle cell trait and increased risk of developing kidney failure
 
New research reveals link between sickle cell trait and increased risk of developing kidney failureNew research indicates that being born with one copy of the sickle gene puts an individual at elevated risk for developing kidney failure requiring dialysis.
 
 
 Mayo study provides vital information on tumor sequencing in newly diagnosed breast cancer patients
 
Mayo study provides vital information on tumor sequencing in newly diagnosed breast cancer patientsTumor sequencing is increasingly used to select treatment for patients with cancer, but its role in women with newly diagnosed breast cancer is unknown.
 
 
 Genentech grant funds home-based telemedicine program for treating MS patients
 
Genentech grant funds home-based telemedicine program for treating MS patientsMultiple sclerosis (MS) clinicians face continued challenges in optimizing neurological care, especially for people with advanced MS living in medically underserved communities. Because of insurmountable geographical and physical challenges, patients cannot always travel to neurology office appointments.
 
 
 VUMC’s Undiagnosed Diseases Network solves medical mysteries using advanced technologies
 
VUMC’s Undiagnosed Diseases Network solves medical mysteries using advanced technologiesIt's human nature to need answers. Patients with debilitating symptoms need a diagnosis — somewhere to place the blame, a starting point to search for answers.
 
 
 Rutgers study discovers that chemical used to detect amyloid plaques increases roundworm lifespan
 
Rutgers study discovers that chemical used to detect amyloid plaques increases roundworm lifespanWhile many anti-aging drugs don't live up to their claim, a tightly replicated study by Rutgers and a group of researchers from around the country discovered that a chemical used to detect amyloid plaques found in the brains of those with Alzheimer's extended the lifespan of thousands of roundworms similar in molecular form, function and genetics to humans.
 
 
 Scientists uncover Achilles' heel in unique kind of immune memory cells
 
Scientists uncover Achilles' heel in unique kind of immune memory cellsThe capacity for memory isn't exclusive to the brain. The immune system, with its sprawling network of diverse cell types, can recall the pathogens it meets, helping it to swiftly neutralize those intruders upon future encounters.
 
 
 UCLA study provides new insights into how the brain works
 
UCLA study provides new insights into how the brain worksA new UCLA study could change scientists' understanding of how the brain works — and could lead to new approaches for treating neurological disorders and for developing computers that "think" more like humans.
 
 
 Researchers discover new way to curb chronic pain
 
Researchers discover new way to curb chronic painFor millions of sufferers, there is nothing more debilitating than chronic back or joint pain. It can feel like a lifetime of misery.
 
 
 Factors contributing to childhood adiposity begin before birth, study shows
 
Factors contributing to childhood adiposity begin before birth, study showsA new article, published in the journal BMC Medicine, reports the largest epigenome-wide association study to date that provides evidence that factors contributing to childhood adiposity (level of body fat) begin before birth and are influenced by mother’s lifestyle, and fetal genetic and epigenetic factors.
 
 
 Researcher explores how military strategy can be used as inspiration for cancer treatment
 
Researcher explores how military strategy can be used as inspiration for cancer treatmentWhen David Gisselsson Nord, a cancer researcher at Lund University in Sweden, read a history book last summer, he was struck by the similarities between how cancer and insurgencies evolve over time.
 
 
 Pittcon 2017: reflections from the floor
 
Pittcon 2017: reflections from the floorPittcon 2017 commenced with a fascinating talk by world-renowned optogenetics expert Dr. Karl Deisseroth, D.H. Chen Professor of Bioengineering, Psychiatry and Behavioral Sciences, Stanford University and Investigator of the Howard Hughes Medical Institute.
 
 
 New method can precisely track replication of yellow fever virus in host immune cells
 
New method can precisely track replication of yellow fever virus in host immune cellsResearchers from Princeton University's Department of Molecular Biology have developed a new method that can precisely track the replication of yellow fever virus in individual host immune cells.