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NHGRI researchers use facial recognition software to diagnose rare genetic disease

Researchers with the National Human Genome Research Institute, part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans.

24 Mar 2017

Genome sequencing approach opens door to therapy options for rare, neglected cancers

An international team of scientists led by the Icahn School of Medicine at Mount Sinai and UConn School of Medicine have reported the results of a genome sequencing study for an extremely rare form of cancer.

23 Mar 2017

Researchers develop novel genetic score to calculate age-specific risk of Alzheimer's disease

An international team of scientists, led by researchers at University of California San Diego School of Medicine and University of California San Francisco, has developed a novel genetic score that allows individuals to calculate their age-specific risk of developing Alzheimer's disease (AD), based upon genetic information.

22 Mar 2017

Machine learning helps researchers uncover cellular control networks

The flow of information between cells in our bodies is exceedingly complex: sensing, signaling, and influencing each other in a constant flow of microscopic engagements. These interactions are critical for life, and when they go awry can lead to the illness and injury.

22 Mar 2017

Researchers develop new software tool to provide fast, accurate quantification of gene expression

A group of computational biological researchers, led by Stony Brook University's Rob Patro, an Assistant Professor in the Department of Computer Science in the College of Engineering and Applied Sciences, has developed a new software tool, Salmon — a lightweight method to provide fast and bias-aware quantification from RNA-sequencing reads.

22 Mar 2017

Treatment with interferon may ease symptoms of Ebola patients

A pilot study of a class of drugs used to treat hepatitis and some forms of multiple sclerosis has been shown for the first time to ease symptoms of Ebola patients, while also increasing their survival.

21 Mar 2017

Scientists identify molecules that may be key to drug resistance in estrogen-driven breast cancers

Three-quarters of all breast cancer tumors are driven by the hormone estrogen. These tumors are frequently treated with drugs to suppress estrogen receptor activity, but unfortunately, at least half of patients do not respond to these treatments, leaving them with drug-resistant tumors and few options.

20 Mar 2017

Single-cell transcriptomic analysis uncovers subgroups of colorectal tumors

Combining single-cell genomics and computational techniques, a research team including Paul Robson, Ph.D., director of single-cell biology at The Jackson Laboratory, has defined cell-type composition of cancerous cells from 11 colorectal tumors, as well as adjacent noncancerous cells, a key to more targeted diagnosis and treatment.

20 Mar 2017

Methylation status of ten positions in genome correlates with all-cause mortality

Various chemical modifications in the genome determine whether genes are read or deactivated. Methyl labels in the DNA play a key role in this "epigenetic" regulation of gene activity.

20 Mar 2017

Linking RNA to autoimmune diseases

An interview with Dr. Chase Spurlock, CEO, discussing IQuity's research into IncRNAs and how they are linked to autoimmue diseases.

20 Mar 2017

TGen researchers create large dataset of potential biomarkers for diagnosing concussions

Following a three-year study of the Arizona State University football program, researchers at the Translational Genomics Research Institute have created the largest dataset to date of extracellular small RNAs, which are potential biomarkers for diagnosing medical conditions, including concussions.

17 Mar 2017

The Sohn Conference Foundation funds research to advance understanding of how pediatric cancer metastasizes

The Sohn Conference Foundation today unveiled the Sohn Collaborative for Liquid Biopsy at Weill Cornell Medicine to develop a blood test that will predict how cancer spreads in both children and adults.

17 Mar 2017

Scientists identify genetic clues to chronic kidney disease

Using international genomic studies backed by proof-of-concept cell experiments, researchers have identified two genes that contribute to the chronic kidney disease glomerulonephritis.

16 Mar 2017

LJI researchers unravel molecular underpinnings of exhausted T cells

One reason we survive into adulthood is that cell-killing T cells usually recognize and eliminate cancerous or pathogen-infected cells.

15 Mar 2017

Scientists announce landmark database of lifespan-extending drugs and compounds

Scientists from the Biogerontology Research Foundation (BGRF) and University of Liverpool have announced a landmark database of lifespan-extending drugs and compounds called DrugAge.

14 Mar 2017

VUMC’s Undiagnosed Diseases Network solves medical mysteries using advanced technologies

It'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.

14 Mar 2017

Study traces molecular roots of uterine carcinosarcoma using genomic, proteomic analyses

Researchers 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.

13 Mar 2017

Swansea 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.

13 Mar 2017

Researchers explore genomic underpinnings of obesity in continental Africans and African-Americans

An 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.

13 Mar 2017

Mayo study provides vital information on tumor sequencing in newly diagnosed breast cancer patients

Tumor sequencing is increasingly used to select treatment for patients with cancer, but its role in women with newly diagnosed breast cancer is unknown.

13 Mar 2017

Genomic News and Research

NHGRI researchers use facial recognition software to diagnose rare genetic disease

Genome sequencing approach opens door to therapy options for rare, neglected cancers

Researchers develop novel genetic score to calculate age-specific risk of Alzheimer's disease

Machine learning helps researchers uncover cellular control networks

Researchers develop new software tool to provide fast, accurate quantification of gene expression

Treatment with interferon may ease symptoms of Ebola patients

Scientists identify molecules that may be key to drug resistance in estrogen-driven breast cancers

Single-cell transcriptomic analysis uncovers subgroups of colorectal tumors

Methylation status of ten positions in genome correlates with all-cause mortality

Linking RNA to autoimmune diseases

TGen researchers create large dataset of potential biomarkers for diagnosing concussions

The Sohn Conference Foundation funds research to advance understanding of how pediatric cancer metastasizes

Scientists identify genetic clues to chronic kidney disease

LJI researchers unravel molecular underpinnings of exhausted T cells

Scientists announce landmark database of lifespan-extending drugs and compounds

VUMC’s Undiagnosed Diseases Network solves medical mysteries using advanced technologies

Study traces molecular roots of uterine carcinosarcoma using genomic, proteomic analyses

Swansea University experts assess contribution of ultra-rare genetic variation in common epilepsies

Researchers explore genomic underpinnings of obesity in continental Africans and African-Americans

Mayo study provides vital information on tumor sequencing in newly diagnosed breast cancer patients

Industry focus eBook: Genomics (4th edition) eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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