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Claritas, NextCODE Health partner to bring global leadership in pediatric medicine, sequence analysis

To rapidly expand the use and power of genomic sequencing for diagnosing and treating rare diseases, Claritas Genomics and NextCODE Health today announced a strategic partnership bringing together global leadership in pediatric medicine and sequence analysis. Claritas Genomics, affiliated with Boston Children's Hospital, is a CLIA-certified clinical laboratory serving the DNA-based diagnostic testing needs of children's hospitals that admit hundreds of thousands of patients with genetic disorders every year.

11 Dec 2014

Andor's Komet software used to automatically score modified 3D 'Comet' assay results

With cancer rates rising worldwide, and Cancer Research UK predicting that the lifetime risk of cancer will reach 50% by 2027, the need for early diagnosis is overwhelming. Now, a British research group has published details of a simple empirical test to detect any early-stage cancer, relying on Andor's Komet software to automatically score the modified 3D 'Comet' assay results.

From Andor Technology Ltd. 11 Dec 2014

Researchers pinpoint rare gene mutations that increase risk of heart attack early in life

A team of investigators from the Broad Institute, Massachusetts General Hospital and other leading biomedical research institutions has pinpointed rare mutations in a gene called APOA5 that increase a person's risk of having a heart attack early in life. These mutations disable the APOA5 gene and also raise the levels in the blood of triglyceride-rich lipoproteins, a type of fat.

11 Dec 2014

New study investigates Ebola protein

A new study by Robert Stahelin, an adjunct associate professor of chemistry and biochemistry at the University of Notre Dame and an associate professor at the Indiana University School of Medicine-South Bend, as well as a member of Notre Dame's Eck Institute for Global Health, investigates how the most abundant protein that composes the Ebola virus, VP 40, mediates replication of a new viral particle.

11 Dec 2014

New technique allows rapid, large-scale studies of gene function

Using a gene-editing system originally developed to delete specific genes, MIT researchers have now shown that they can reliably turn on any gene of their choosing in living cells.

11 Dec 2014

STSI researchers launch study to examine root cause of sudden unexpected death

Researchers at the Scripps Translational Science Institute have launched a clinical trial aimed at cracking one of the toughest mysteries in forensic science -- sudden unexplained death.

11 Dec 2014

Study: Long-term endurance training alters epigenetic pattern in the human skeletal muscle

A new study from Karolinska Institutet in Sweden shows that long-term endurance training in a stable way alters the epigenetic pattern in the human skeletal muscle. The research team behind the study, which is being published in the journal Epigenetics, also found strong links between these altered epigenetic patterns and the activity in genes controlling improved metabolism and inflammation.

10 Dec 2014

Genetic variations may contribute to treatment-related cognitive problems in children with ALL

Common variations in four genes related to brain inflammation or cells' response to damage from oxidation may contribute to the problems with memory, learning and other cognitive functions seen in children treated for acute lymphoblastic leukemia (ALL), according to a study led by researchers from Boston Children's Hospital, The Children's Hospital at Montefiore, and Dana-Farber/Boston Children's Cancer and Blood Disorders Center.

10 Dec 2014

Researchers freeze biological structures to illustrate DNA double-strand break process

Scientists from the Spanish National Cancer Research Centre, led by Guillermo Montoya, have developed a method for producing biological crystals that has allowed scientists to observe --for the first time-- DNA double chain breaks. They have also developed a computer simulation that makes this process, which lasts in the order of millionths of a second, visible to the human eye.

9 Dec 2014

BAZ2A protein directly influences the aggressiveness of prostate cancer

A protein that influences the epigenetic characteristics of tumor cells is directly linked to the grade of malignancy of prostate cancer. This key discovery has been made by a team of scientists from the German Cancer Research Center, the University of Zurich, Hamburg-Eppendorf University Hospital, Heidelberg University, and other institutes in a study of 7,700 samples of tumor tissue.

9 Dec 2014

Screening system spots cancerous changes invisible to sequencing

A technique that can identify causes of cancer invisible to genetic sequencing has uncovered large sets of previously unknown pancreatic cancer genes. It is hoped that this study will boost research into a disease that is still poorly understood and for which five-year survival rates have stood at around 5 per cent for the past four decades.

8 Dec 2014

Findings open new avenues for research to predict risk of therapy-related AML

For a small percentage of cancer patients, treatment aimed at curing the disease leads to a form of leukemia with a poor prognosis. Conventional thinking goes that chemotherapy and radiation therapy induce a barrage of damaging genetic mutations that kill cancer cells yet inadvertently spur the development of acute myeloid leukemia (AML), a blood cancer.

8 Dec 2014

Baylor-led researchers identify gene linked to familial glioma

An international consortium of researchers led by Baylor College of Medicine has identified for the first time a gene associated with familial glioma (brain tumors that appear in two or more members of the same family) providing new support that certain people may be genetically predisposed to the disease.

8 Dec 2014

Scientists devise powerful algorithm to improve effectiveness of research technology harnessing RNAi

Scientists at Cold Spring Harbor Laboratory have devised a powerful algorithm that improves the effectiveness of an important research technology harnessing RNA interference, or RNAi.

7 Dec 2014

Study sheds new light on well-known mechanism required for immune response

A new study published in the scientific journal Proceedings of the National Academy of Sciences of the United States of America sheds new light on a well-known mechanism required for the immune response. Researchers at the IRCM, led by Tarik Möröy, PhD, identified a protein that controls the activity of the p53 tumour suppressor protein known as the "guardian of the genome".

6 Dec 2014

Study links poor semen quality to higher risk of various health conditions

A study of more than 9,000 men with fertility problems has revealed a correlation between the number of different defects in a man's semen and the likelihood that the man has other health problems.

6 Dec 2014

Promising anti-malarial compound uses novel mechanism to kill malaria parasite

An international research collaborative has determined that a promising anti-malarial compound tricks the immune system to rapidly destroy red blood cells infected with the malaria parasite but leave healthy cells unharmed. St. Jude Children's Research Hospital scientists led the study, which appears in the current online early edition of the Proceedings of the National Academy of Sciences.

5 Dec 2014

Most parents interested in newborn genomic testing, study reveals

A study published this week in Genetics in Medicine is the first to explore new parents' attitudes toward newborn genomic testing. The findings suggest that if newborn genomic testing becomes available, there would be robust interest among new parents, regardless of their demographic background.

5 Dec 2014

Growth genes seem different in Hunger Winter children

Individuals conceived in the severe Dutch Famine, also called the Hunger Winter, may have adjusted to this horrendous period of World War II by making adaptations to how active their DNA is. Genes involved in growth and development were differentially regulated, according to researchers at the Leiden University Medical Center, Harvard University, and Columbia University's Mailman School of Public Health.

5 Dec 2014

Scientists uphold mouse model of human disease, but pinpoint vital differences in gene expression

Scientists at Penn State College of Medicine, working alongside an international team of researchers, have produced the most complete encyclopedia of functional elements in the mouse genome to date and compared it to the human genome.

5 Dec 2014

Genome News and Research

Claritas, NextCODE Health partner to bring global leadership in pediatric medicine, sequence analysis

Andor's Komet software used to automatically score modified 3D 'Comet' assay results

Researchers pinpoint rare gene mutations that increase risk of heart attack early in life

New study investigates Ebola protein

New technique allows rapid, large-scale studies of gene function

STSI researchers launch study to examine root cause of sudden unexpected death

Study: Long-term endurance training alters epigenetic pattern in the human skeletal muscle

Genetic variations may contribute to treatment-related cognitive problems in children with ALL

Researchers freeze biological structures to illustrate DNA double-strand break process

BAZ2A protein directly influences the aggressiveness of prostate cancer

Screening system spots cancerous changes invisible to sequencing

Findings open new avenues for research to predict risk of therapy-related AML

Baylor-led researchers identify gene linked to familial glioma

Scientists devise powerful algorithm to improve effectiveness of research technology harnessing RNAi

Study sheds new light on well-known mechanism required for immune response

Study links poor semen quality to higher risk of various health conditions

Promising anti-malarial compound uses novel mechanism to kill malaria parasite

Most parents interested in newborn genomic testing, study reveals

Growth genes seem different in Hunger Winter children

Scientists uphold mouse model of human disease, but pinpoint vital differences in gene expression

The art of CRISPR: The power and promise of gene editing eBook

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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