Exome Sequencing News and Research

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Researchers to discuss implications of genomic sequencing at ACMG meeting

Researchers from the Mayo Clinic Center for Individualized Medicine will present results of three different studies evaluating implications and feasibility of genome sequencing at the ACMG Annual Clinical Genetics Meeting this week in Nashville, Tenn.

27 Mar 2014

Patient with advanced bladder cancer shows complete response to everolimus and pazopanib drugs

A patient with advanced bladder cancer experienced a complete response for 14 months to the drug combination everolimus and pazopanib in a phase I trial, and genomic profiling of his tumor revealed two alterations that may have caused this exceptional response, according to a study published in Cancer Discovery, a journal of the American Association for Cancer Research.

13 Mar 2014

Three innovative tools to detect, test and initiate personalized drug treatment for seizures

A team of researchers from the National Institutes of Health, Emory University and Cedars-Sinai - specialists in identifying and treating very rare diseases - used three innovative tools to detect a previously unknown gene mutation, test potential therapies in the lab, and initiate personalized drug treatment for a boy with a lifelong history of uncontrollable seizures that caused significant impact on his cognitive and social development.

12 Mar 2014

Advanced paternal age effects extend to several psychiatric disorders

The effect of advanced paternal age at childbearing on the psychiatric morbidity risk of their children extends to several psychiatric disorders and particularly bipolar disorder, findings from a sibling-comparison study show.

27 Feb 2014

Supercomputer dramatically accelerates genome analysis

Although the time and cost of sequencing an entire human genome has plummeted, analyzing the resulting three billion base pairs of genetic information from a single genome can take many months.

20 Feb 2014

Manchester researchers become first in world to assess all genetic links with fungal lung infection CPA

A grandfather-of-three from Tameside is helping University of Manchester researchers become the first in the world to assess all the genetic links with Chronic Pulmonary Aspergillosis (CPA) - a debilitating fungal lung infection that claims the lives of thousands of people in the UK and millions more worldwide.

From The University of Manchester 12 Feb 2014

Researchers discover genetic mutations that cause deadly lung disease

A team of researchers, led by physicians and scientists at Intermountain Medical Center and ARUP Laboratories in Salt Lake City, has made a medical breakthrough by discovering genetic mutations that cause a rare and deadly lung disease.

4 Feb 2014

UC San Diego researchers uncover causes for hereditary spastic paraplegia

In a study published in the January 31, 2014 issue of Science, an international team led by scientists at the University of California, San Diego School of Medicine report doubling the number of known causes for the neurodegenerative disorder known as hereditary spastic paraplegia. HSP is characterized by progressive stiffness and contraction of the lower limbs and is associated with epilepsy, cognitive impairment, blindness and other neurological features.

31 Jan 2014

Novel HER2 mutation identified in familial lung adenocarcinomas

Researchers have identified a novel germline mutation in the transmembrane domain of the human epidermal growth factor receptor 2 gene in familial lung adenocarcinomas.

24 Jan 2014

Research reveals new information about the genetic complexity underpinning schizophrenia

The Icahn School of Medicine at Mount Sinai today announced the publication of two papers in the journal Nature that reveal new information about the genetic complexity underpinning schizophrenia. These collaborative studies represent the largest exome sequencing efforts to date to elucidate this mental illness, and together found that the disorder is likely caused by far more rare genetic mutations than previously suspected.

23 Jan 2014

ACMG’s Genomics Annual Clinical Genetics Meeting showcases latest breakthroughs in genetics research

Do you cover genetics, genomics, healthcare or medicine? The media are invited to register now for the American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, March 25-29, 2014 at the Nashville Convention Center.

23 Jan 2014

Researchers discover new gene involved in severe childhood epilepsy

A European consortium of epilepsy researchers has reported the discovery of a new gene involved in severe childhood epilepsy. Using a novel combination of technologies, including trio exome sequencing of patient/parental DNA and genetic studies in the tiny larvae of zebrafish, the EuroEPINOMICS RES consortium found that mutations in the gene CHD2 are responsible for a subset of epilepsy patients with symptoms similar to Dravet syndrome - a severe form of childhood epilepsy that is in many patients resistant to currently available anti-epileptic drugs.

23 Jan 2014

Childhood brain cancer (ETMR/ETANTR): an interview with Dr. Nada Jabado, Department of Pediatrics at McGill University

Embryonal tumours with multilayered rosettes (ETMR) are rare, deadly brain tumours that affect mainly children below the age of 4 years. There are 300 cases reported but probably there are many more as this tumour is often misdiagnosed.

21 Jan 2014

BRAF mutation associated with other cancers appears to drive papillary craniopharyngiomas

A team led by investigators from Massachusetts General Hospital, Brigham and Women's Hospital and the Broad Institute has found that a gene mutation associated with several types of cancer also may be responsible for a rare but debilitating brain tumor called papillary craniopharyngioma.

13 Jan 2014

Researchers complete genomic analysis of cervical cancer in two patient populations

Researchers from the Boston area, Mexico, and Norway have completed a comprehensive genomic analysis of cervical cancer in two patient populations. The study identified recurrent genetic mutations not previously found in cervical cancer, including at least one for which targeted treatments have been approved for other forms of cancer.

25 Dec 2013

Fluidigm announces universal sample prep workflow for single-cell DNA sequencing

Fluidigm Corporation today announced a universal sample prep workflow for single-cell DNA sequencing that runs on its C1TM Single-Cell Auto Prep System. This workflow streamlines targeted, whole exome and whole genome sequencing in heterogeneous cell populations and enables researchers to discover and screen somatic mutations, such as SNP, small indels, and translocations.

24 Dec 2013

New gene mutation helps doctors give more accurate diagnosis of mitochondrial myopathy

A new gene mutation which will help doctors give a more accurate diagnosis of a particular type of brain and muscle disease in children has been discovered for the first time by University of Leeds experts.

17 Dec 2013

Researchers uncover second rare genetic mutation linked to higher risk of Alzheimer's disease

A research team from The University of Nottingham has helped uncover a second rare genetic mutation which strongly increases the risk of Alzheimer's disease in later life.

13 Dec 2013

Researchers identify variations in gene that doubles risk of developing Alzheimer's disease

A team led by researchers at Washington University School of Medicine in St. Louis has identified variations in a gene that doubles a person's risk of developing Alzheimer's disease later in life.

12 Dec 2013

Combinatory therapy may be effective in suppressing drug resistance in treatment of melanoma

Stand Up To Cancer (SU2C), the charitable initiative supporting ground-breaking research aimed at getting new cancer treatments to patients in an accelerated timeframe, announces that the Allan H. (Bud) and Sue Selig Stand Up To Cancer Melanoma Innovative Research Grant Recipient Roger S. Lo, M.D., Ph.D., associate professor in the Department of Medicine at the Jonsson Comprehensive Cancer Center of the University of California, Los Angeles (UCLA) has published two studies in Cancer Discovery, a journal of the American Association for Cancer Research which indicate that treatment using combinatory therapy may be effective in suppressing drug resistance in the treatment of melanoma.

21 Nov 2013

Exome Sequencing News and Research

Researchers to discuss implications of genomic sequencing at ACMG meeting

Patient with advanced bladder cancer shows complete response to everolimus and pazopanib drugs

Three innovative tools to detect, test and initiate personalized drug treatment for seizures

Advanced paternal age effects extend to several psychiatric disorders

Supercomputer dramatically accelerates genome analysis

Manchester researchers become first in world to assess all genetic links with fungal lung infection CPA

Researchers discover genetic mutations that cause deadly lung disease

UC San Diego researchers uncover causes for hereditary spastic paraplegia

Novel HER2 mutation identified in familial lung adenocarcinomas

Research reveals new information about the genetic complexity underpinning schizophrenia

ACMG’s Genomics Annual Clinical Genetics Meeting showcases latest breakthroughs in genetics research

Researchers discover new gene involved in severe childhood epilepsy

Childhood brain cancer (ETMR/ETANTR): an interview with Dr. Nada Jabado, Department of Pediatrics at McGill University

BRAF mutation associated with other cancers appears to drive papillary craniopharyngiomas

Researchers complete genomic analysis of cervical cancer in two patient populations

Fluidigm announces universal sample prep workflow for single-cell DNA sequencing

New gene mutation helps doctors give more accurate diagnosis of mitochondrial myopathy

Researchers uncover second rare genetic mutation linked to higher risk of Alzheimer's disease

Researchers identify variations in gene that doubles risk of developing Alzheimer's disease

Combinatory therapy may be effective in suppressing drug resistance in treatment of melanoma

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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