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New fruit fly model study reveals metabolic pathway that can be targeted to treat FXS patients

Fragile X syndrome (FXS) is the most common genetically inherited cause of intellectual disability in humans. New research shows how the hormone insulin -- usually associated with diabetes -- is involved in the daily activity patterns and cognitive deficits in the fruitfly model of FXS, according to a new study from the Perelman School of Medicine at the University of Pennsylvania published online this month in Molecular Psychiatry in advance of the print issue.

27 Apr 2016

Low levels of vitamin D, methylation in black teens may increase cancer risk

Low levels of vitamin D in black teens correlates with low activity of a major mechanism for controlling gene expression that may increase their risk of cancer and other disease, researchers report.

26 Apr 2016

Researchers develop real-time single molecule electronic DNA sequencing platform

Researchers from Columbia University, with colleagues at Genia Technologies, Harvard University and the National Institute of Standards and Technology report achieving real-time single molecule electronic DNA sequencing at single-base resolution using a protein nanopore array.

25 Apr 2016

NASA's research program uses omics to look more closely at individual health

NASA's Human Research Program is releasing the first half of a video series entitled Omics: Exploring Space Through You to highlight its Twins Study, in conjunction with its National DNA Day Reddit Ask Me Anything event at 10 a.m. CDT/11 a.m. EDT, Monday, April 25, 2016. The series explores space through you by using omics to look more closely at individual health.

22 Apr 2016

Wellderly study finds link between cognitive decline genes and healthy aging

An eight-year-long accrual and analysis of the whole genome sequences of healthy elderly people, or "Wellderly," has revealed a higher-than-normal presence of genetic variants offering protection from cognitive decline, researchers from the Scripps Translational Science Institute (STSI) reported today in the journal Cell.

22 Apr 2016

CUMC researchers identify new neurodevelopmental syndrome

A multicenter research team led by Columbia University Medical Center has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.

22 Apr 2016

Scientists identify genetic mechanisms behind development of myopia

Myopia, also known as short-sightedness or near-sightedness, is the most common disorder affecting the eyesight and it is on the increase. The causes are both genetic and environmental.

22 Apr 2016

Researchers use highly accurate biomarker to measure aging in HIV infected patients

Thanks to combination antiretroviral therapies, many people with HIV can expect to live decades after being infected. Yet doctors have observed these patients often show signs of premature aging.

22 Apr 2016

Subtle changes in protein-coding gene may cause different genetic disorders

It has been disorienting to the scientific and medical community as to why different subtle changes in a protein-coding gene causes many different genetic disorders in different patients -- including premature aging, nerve problems, heart problems and muscle problems. no other gene works like this. According to a new study, co-authored by Binghamton University faculty Eric Hoffman, it has to do with cell "commitment."

22 Apr 2016

Scientists develop CRISPRainbow to study genome structure in real time

CRISPRainbow, a new technology using CRISPR/Cas9 developed by scientists at UMass Medical School, allows researchers to tag and track up to seven different genomic locations in live cells. This labeling system, details of which were published in Nature Biotechnology, will be an invaluable tool for studying the structure of the genome in real time.

21 Apr 2016

Scientists identify transposable element in certain bird genomes

In rare instances, DNA is known to have jumped from one species to another. If a parasite's DNA jumps to its host's genome, it could leave evidence of that parasitic interaction that could be found millions of years later -- a DNA 'fossil' of sorts.

21 Apr 2016

Novel method could help analyze GWAS results for sporadic diseases

Using a novel method, Whitehead Institute researchers have determined how a non-coding mutation identified in genome-wide association studies can contribute to sporadic Parkinson's disease (PD). The approach could be used to analyze GWAS results for other sporadic diseases with genetic causes, such as multiple sclerosis, diabetes, and cancer.

21 Apr 2016

New diagnostic approach may help physicians more efficiently screen for dementia

A tiered diagnostic approach that incorporates clinical, imaging and laboratory data may help physicians more efficiently screen for neurodegenerative disorders such as dementia, according to the consensus of a multi-disciplinary panel of experts.

From Quest Diagnostics 21 Apr 2016

DKFZ researchers develop new methods to study disease-relevant changes in production of oxidants

There are many false beliefs and myths about the role of oxidants and antioxidants in the human body. Traditionally, oxidants are presented as harmful and antioxidants as health-promoting. However, scientists have known for many years that endogenous oxidants are essential chemical messengers that help keep up the functions of the organism.

20 Apr 2016

New computer algorithm can better characterize functional context of genomic variations in cancer

Cancer is rarely the result of a single mutation in a single gene. Rather, tumors arise from the complex interplay between any number of mutually exclusive abnormal changes in the genome, the combinations of which can be unique to each individual patient.

19 Apr 2016

Researchers develop new method for identifying DNA mutations in single cancer cell

Researchers at The University of Texas MD Anderson Cancer Center have announced a new method for detecting DNA mutations in a single cancer cell versus current technology that analyzes millions of cells which they believe could have important applications for cancer diagnosis and treatment. The results are published in the April 18 online issue of Nature Methods.

19 Apr 2016

UAB lab to offer new tests for genetic diseases using next-generation sequencing

The Medical Genomics Laboratory at the University of Alabama at Birmingham is expanding its technological array with a new panel of diagnostic tests for genetic diseases known as neurofibromatoses and rasopathies. Beginning April 18, the UAB lab will offer new tests using the technique called customized deep-coverage, next-generation sequencing or NGS.

18 Apr 2016

New classifier method may improve diagnosis of autism spectrum disorders

Many doctors and scientists think they could improve the diagnosis and understanding of autism spectrum disorders if they had reliable means to identify specific abnormalities in the brain.

15 Apr 2016

UNIGE researchers identify PIGG gene that plays crucial role in recessive disease

The objective of genetic medicine is to analyze all the genes that make up the human genome, in order to identify as many genetic diseases as possible. Indeed, each gene variation has the potential to trigger specific defects.

15 Apr 2016

Oxford Gene Technology develops new FISH probes in ‘outstanding’ Innovate UK project

Oxford Gene Technology (OGT), The Molecular Genetics Company, has developed a new range of non-human fluorescence in situ hybridisation (FISH) probes, for pig, chicken and mouse. The probes were developed as part of an Innovate UK knowledge transfer partnership (KTP) funded project in collaboration with the University of Kent, and was given an ‘outstanding’ award reserved for the top 10% of KTP projects.

13 Apr 2016

Genome News and Research

New fruit fly model study reveals metabolic pathway that can be targeted to treat FXS patients

Low levels of vitamin D, methylation in black teens may increase cancer risk

Researchers develop real-time single molecule electronic DNA sequencing platform

NASA's research program uses omics to look more closely at individual health

Wellderly study finds link between cognitive decline genes and healthy aging

CUMC researchers identify new neurodevelopmental syndrome

Scientists identify genetic mechanisms behind development of myopia

Researchers use highly accurate biomarker to measure aging in HIV infected patients

Subtle changes in protein-coding gene may cause different genetic disorders

Scientists develop CRISPRainbow to study genome structure in real time

Scientists identify transposable element in certain bird genomes

Novel method could help analyze GWAS results for sporadic diseases

New diagnostic approach may help physicians more efficiently screen for dementia

DKFZ researchers develop new methods to study disease-relevant changes in production of oxidants

New computer algorithm can better characterize functional context of genomic variations in cancer

Researchers develop new method for identifying DNA mutations in single cancer cell

UAB lab to offer new tests for genetic diseases using next-generation sequencing

New classifier method may improve diagnosis of autism spectrum disorders

UNIGE researchers identify PIGG gene that plays crucial role in recessive disease

Oxford Gene Technology develops new FISH probes in ‘outstanding’ Innovate UK project

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