DNA Sequencing News and Research

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International researchers discover gene that causes familial scoliosis

The discovery of the first gene causing familial scoliosis was announced by an international France-Canada research team today. "Mystery surrounds the cause of scoliosis, which is a three dimensional deformation of the vertebral column. Many researchers have been attempting to uncover the origins of this disease, particularly from a genetic point of view," explained leading co-author Dr Florina Moldovan of the University of Montreal and the CHU Sainte Justine research hospital.

3 Feb 2015

Children's Hospital of Philadelphia invited to Obama's announcement of Precision Medicine Initiative

At the invitation of the White House, The Children's Hospital of Philadelphia (CHOP) sent two special guests to President Barack Obama's announcement today of the Precision Medicine Initiative: Dr. Steven M. Altschuler, CHOP's chief executive officer, and 9-year-old patient Emily Whitehead, now cancer-free thanks to a personalized treatment called T cell therapy, developed at CHOP.

2 Feb 2015

Emory researchers complete detailed maps of 184 duplications found in genomes

Copy number variations (deletions or duplications of large chunks of the genome) are a major cause of birth defects, intellectual disability, autism spectrum disorder and other developmental disorders. Still, geneticists can definitively say how a CNV, once discovered in someone's DNA, leads to one of these conditions in just a fraction of cases.

31 Jan 2015

Scientists identify biological clock that can help predict individual's age

Scientists have identified a biological clock that provides vital clues about how long a person is likely to live.

31 Jan 2015

TAU researchers identify novel proteins capable of stymieing growth in antibiotic-resistant bacteria

Antibiotic-resistant infections are on the rise, foiling efforts to reduce death rates in developing countries where uncontrolled use of antibiotics and poor sanitation run amok. The epidemic of "superbugs," bacteria resistant to antibiotics, knows no borders -- presenting a clear and present danger around the globe.

31 Jan 2015

AstraZeneca announces research collaborations to use genome-editing tool for drug discovery and development

AstraZeneca today announced four research collaborations aimed at harnessing the power of CRISPR, a pioneering genome-editing technique, across its entire discovery platform in the company’s key therapeutic areas.

30 Jan 2015

UAB Research Probes Molecular Basis Of Rare Genetic Disorder

An international group co-led by University of Alabama at Birmingham researcher Mary MacDougall, Ph.D., has unraveled the molecular basis for the rare, inherited genetic disorder, Singleton-Merten Syndrome (SMS). Individuals with SMS develop extreme, life-threatening calcification of the aorta and heart valves, early-onset periodontitis and root resorption of the teeth, decreases in bone density, and loss of bone tissue at the tips of fingers and toes.

23 Jan 2015

Study identifies gene that may become resistant to current testicular cancer treatments

A major research study has uncovered several new genetic mutations that could drive testicular cancer - and also identified a gene which may contribute to tumours becoming resistant to current treatments.

22 Jan 2015

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal).

20 Jan 2015

Beckman Coulter Genomics announces CAP accreditation

Beckman Coulter Genomics, a leading provider of DNA Sequencing Services announces today accreditation from the College of American Pathologists (CAP).

From Beckman Coulter Life Sciences - Automation and Genomics 13 Jan 2015

Biogen Idec, Columbia University Medical Center form $30 million genomics research alliance

Biogen Idec and Columbia University Medical Center have formed a $30 million strategic alliance to conduct genetics discovery research on the underlying causes of disease and to identify new treatment approaches. As part of this agreement, a sequencing and analysis facility and shared postdoctoral program will be established at Columbia to support collaborative genetics studies.

11 Jan 2015

New research sheds light on process that controls genes and determines cell fate

For a skin cell to do its job, it must turn on a completely different set of genes than a liver cell — and keep genes it doesn’t need switched off. One way of turning off large groups of genes at once is to send them to “time-out” at the edge of the nucleus, where they are kept quiet. New research from Johns Hopkins sheds light on how DNA gets sent to the nucleus’ far edge, a process critical to controlling genes and determining cell fate.

7 Jan 2015

Whole-genome sequencing can identify patients' risk for hereditary cancer

UT Southwestern Medical Center cancer researchers have demonstrated that whole-genome sequencing can be used to identify patients' risk for hereditary cancer, which can potentially lead to improvements in cancer prevention, diagnosis, and care.

24 Dec 2014

FDA approves Myriad’s BRACAnalysis CDx for use with ovarian cancer drug

Myriad Genetics, Inc. today announced that it has received approval from the U.S. Food and Drug Administration (FDA) for BRACAnalysis CDx to be used as the only companion diagnostic in conjunction with AstraZeneca’s drug Lynparza™ (olaparib).

22 Dec 2014

Study: Inactivating polymorphism may influence progression of ovarian and luminal breast cancer

A common polymorphism - a variation in a person's DNA sequence that is found with regularity in the general population - can lead to a chain of events that dictates how a tumor will progress in certain types of cancer, including a form of breast cancer as well as ovarian cancer, according to new research from The Wistar Institute that was published online by the journal Cancer Cell.

19 Dec 2014

Two UH researchers named fellows of National Academy of Inventors

Two University of Houston faculty members have been named fellows of the National Academy of Inventors for their contributions to scientific and technological innovation.

17 Dec 2014

Sophia Genetics earns ISO 13485 and ISO 27001 certification for safe data handling and security

Sophia Genetics, the European leader in Clinical Genomics and Next Generation DNA Sequencing (NGS), has become the first company to achieve both ISO 13485 and ISO 27001 certification for its commitment to safe data handling and security.

16 Dec 2014

New statistical model enables better identification of different cell types in solid tumors

A new statistical model developed by a research team at Worcester Polytechnic Institute may enable physicians to create personalized cancer treatments for patients based on the specific genetic mutations found in their tumors.

12 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

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

DNA Sequencing News and Research

International researchers discover gene that causes familial scoliosis

Children's Hospital of Philadelphia invited to Obama's announcement of Precision Medicine Initiative

Emory researchers complete detailed maps of 184 duplications found in genomes

Scientists identify biological clock that can help predict individual's age

TAU researchers identify novel proteins capable of stymieing growth in antibiotic-resistant bacteria

AstraZeneca announces research collaborations to use genome-editing tool for drug discovery and development

UAB Research Probes Molecular Basis Of Rare Genetic Disorder

Study identifies gene that may become resistant to current testicular cancer treatments

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

Beckman Coulter Genomics announces CAP accreditation

Biogen Idec, Columbia University Medical Center form $30 million genomics research alliance

New research sheds light on process that controls genes and determines cell fate

Whole-genome sequencing can identify patients' risk for hereditary cancer

FDA approves Myriad’s BRACAnalysis CDx for use with ovarian cancer drug

Study: Inactivating polymorphism may influence progression of ovarian and luminal breast cancer

Two UH researchers named fellows of National Academy of Inventors

Sophia Genetics earns ISO 13485 and ISO 27001 certification for safe data handling and security

New statistical model enables better identification of different cell types in solid tumors

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

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

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