Genomics News and Research

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Genomics is the study of the complete genetic material, including genes and their functions, of an organism.

US and German researchers team up to advance quality control of human stem cells

Researchers at The Scripps Research Institute (TSRI) in California, USA, and two German institutes, the Center for Integrated Psychiatry Kiel (ZIP) and the Fraunhofer Institute for Molecular Biology and Applied Ecology IME, have announced a partnership to advance the quality control of human stem cells.

16 Oct 2015

Rare disease diagnosis available in days not years: BIA announcement

It currently takes 5 years on average to diagnose a child with a rare genetic disease, so he or she can receive the most appropriate care. This is set to change with an agreement facilitated by Northern Health Science Alliance (NHSA) between Congenica and 5 of its member hospitals, which will see them adopt the company’s world leading Sapientia™ technology.

16 Oct 2015

GENALICE’s Population Calling analysis module improves diagnosis, treatment of complex DNA diseases

Today, GENALICE is setting a new standard for ultra-fast and highly reliable detection of all DNA changes in large patient cohorts. In a one-hour online event, the complete genomes of 800 Alzheimer Disease (AD) patients were processed, and by ingeniously using the aggregate information from the complete group, detection of DNA changes, or variants, in individual patients was enhanced.

13 Oct 2015

Quest Diagnostics scientists demonstrate new molecular combing technique that predicts cystic fibrosis, muscular dystrophy

Genetic testing for mutations beyond those currently recommended in medical guidelines may aid the identification of more couples at risk of having a child with cystic fibrosis, according to a study presented today at the 2015 American Society of Human Genetics Annual Meeting, which runs through October 10 in Baltimore, Maryland.

From Quest Diagnostics 13 Oct 2015

GENALICE’s Population Calling analysis module improves diagnosis, treatment of complex DNA diseases

13 Oct 2015

Study identifies four distinct types of bowel cancer

Bowel cancer can be divided up into four distinct diseases, each with its own set of biological characteristics, a major new study reports.

12 Oct 2015

UConn researchers sequence RNA of most complicated gene

UConn researchers have sequenced the RNA of the most complicated gene known in nature, using a hand-held sequencer no bigger than a cell phone.

From Oxford Nanopore Technologies 12 Oct 2015

Scientists calculate precise measurements of heritability in nine pediatric-onset autoimmune diseases

Scientists have calculated more precise measurements of heritability--the influence of underlying genes--in nine autoimmune diseases that begin in childhood. The research may strengthen researchers' abilities to better predict a child's risk for associated autoimmune diseases.

9 Oct 2015

Brain & Behavior Research Foundation to honor nine scientists with Outstanding Achievement Prizes

The Brain & Behavior Research Foundation will honor nine scientists with its 2015 Outstanding Achievement Prizes for their work in schizophrenia, mood disorders, child and adolescent psychiatry, and cognitive neuroscience.

9 Oct 2015

Controlling TH-containing neurons can manipulate maternal behavior of females and aggression of males

Most female mammals give birth and care for their offspring, while the males often breed with multiple partners and play little role in parenting once the mating is over. Yet researchers have had a hard time pinpointing where, exactly, in the brain these differences between the sexes are located and how they translate into behavior. The extent of "hardwired parental behavior" is hotly disputed.

8 Oct 2015

Dr. Paul Liu named 2015 Distinguished Alumnus for contributions to leukemia research

In his laboratory in the National Human Genome Research Institute in Bethesda, Md., Paul Liu, M.D., Ph.D., is working on targeted treatments for leukemia, a life-threatening blood cancer.

8 Oct 2015

Scientists identify culprit genes behind the formation and progression of breast tumours

A team from the SingHealth Duke-NUS Academic Medical Centre, comprising scientists and clinicians from the National Cancer Centre Singapore, Singapore General Hospital and Duke-NUS Graduate Medical School, has uncovered the genetic landscape of a distinct breast tumour group called fibroepithelial tumours.

8 Oct 2015

Claritas Genomics announces launch of Claritas Clinical Exome, novel diagnostic test

Claritas Genomics, Inc., announced the launch of its Claritas Clinical Exome, at the Annual Meeting of the American Society of Human Genetics running 10/6 – 10/10 in Baltimore, MD. This novel diagnostic test is the first to exploit the strengths of multiple DNA sequencing platforms simultaneously to deliver confirmed results for a patient’s clinical whole exome within 4 weeks, compared to the industry standard of 12 weeks or more. Patients with rare disease typically seek a diagnosis for 8-12 years, receiving 3-5 separate tests at a high cost.

7 Oct 2015

New diagnostic technology based on computer algorithms can quickly identify source of cancer

In by far the majority of cancer cases, the doctor can quickly identify the source of the disease, for example cancer of the liver, lungs, etc. However, in about one in 20 cases, the doctor can confirm that the patient has cancer—but cannot find the source. These patients then face the prospect of a long wait with numerous diagnostic tests and attempts to locate the origin of the cancer before starting any treatment.

7 Oct 2015

Genetic carrier screening: an interview with Don Hardison, CEO of Good Start Genetics

Carrier screening provides you and your doctor with information about your risks of having a child with a serious genetic disease prior to or during pregnancy.

6 Oct 2015

Epilepsy Society becomes third customer of Complete Genomics' newly introduced Revolocity system

Complete Genomics, Inc., a leader in whole human genome sequencing, announced today that leading UK charity Epilepsy Society has become the third customer of the company's newly introduced Revolocity system, a supersequencer for large-scale, high-quality whole genome and whole exome sequencing.

6 Oct 2015

WuXi NextCODE, Sidra partner to provide comprehensive research and bioinformatics programs in Qatar

WuXi NextCODE, a precision medicine company using the genome to improve health worldwide, and Sidra Medical and Research Center, a groundbreaking hospital, research and education institution, today announced a broad, long-term agreement to provide and co-develop comprehensive research and bioinformatics programs.

6 Oct 2015

International team of scientists create world's largest catalog of genomic variations among humans

An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers with powerful clues to help them establish why some people are susceptible to various diseases. While most differences in peoples' genomes - called variants - are harmless, some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to susceptibilities to cancer, obesity, diabetes, heart disease and other disorders.

1 Oct 2015

Researchers identify new gene locus that may protect children from developing malaria in Africa

Published today in Nature, the findings detail a new gene locus that can explain why, in communities where everyone is constantly exposed to malaria, some children develop severe malaria and others don't. Now, researchers can be sure that this particular stretch of our DNA plays a crucial role in the progression of the disease.

1 Oct 2015

Health Partnership Scheme funds project dedicated to viral haemorrhagic fever

A team from Plymouth University Peninsula Schools of Medicine and Dentistry and Plymouth Hospitals NHS Trust has received funding of £136,000 from the Health Partnership Scheme to develop a training programme to help the Sierra Leonean Health Service to fight future outbreaks of viral haemorrhagic fever.

1 Oct 2015

Genomics News and Research

Further Reading

US and German researchers team up to advance quality control of human stem cells

Rare disease diagnosis available in days not years: BIA announcement

GENALICE’s Population Calling analysis module improves diagnosis, treatment of complex DNA diseases

Quest Diagnostics scientists demonstrate new molecular combing technique that predicts cystic fibrosis, muscular dystrophy

GENALICE’s Population Calling analysis module improves diagnosis, treatment of complex DNA diseases

Study identifies four distinct types of bowel cancer

UConn researchers sequence RNA of most complicated gene

Scientists calculate precise measurements of heritability in nine pediatric-onset autoimmune diseases

Brain & Behavior Research Foundation to honor nine scientists with Outstanding Achievement Prizes

Controlling TH-containing neurons can manipulate maternal behavior of females and aggression of males

Dr. Paul Liu named 2015 Distinguished Alumnus for contributions to leukemia research

Scientists identify culprit genes behind the formation and progression of breast tumours

Claritas Genomics announces launch of Claritas Clinical Exome, novel diagnostic test

New diagnostic technology based on computer algorithms can quickly identify source of cancer

Genetic carrier screening: an interview with Don Hardison, CEO of Good Start Genetics

Epilepsy Society becomes third customer of Complete Genomics' newly introduced Revolocity system

WuXi NextCODE, Sidra partner to provide comprehensive research and bioinformatics programs in Qatar

International team of scientists create world's largest catalog of genomic variations among humans

Researchers identify new gene locus that may protect children from developing malaria in Africa

Health Partnership Scheme funds project dedicated to viral haemorrhagic fever

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