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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

UC San Diego receives NIH grant to establish interdisciplinary center to combat antibiotic resistance

Researchers at University of California, San Diego School of Medicine have received a five-year, $9.5-million award from the National Institute of Allergy and Infectious Diseases at the National Institutes of Health to establish an interdisciplinary center to define the systems biology of antibiotic resistance. The program will be led by Bernhard Palsson, PhD, Distinguished Professor of Bioengineering and Pediatrics, and Victor Nizet, MD, professor of pediatrics and pharmacy.

13 Apr 2016

Scientists use FAN1 knockout mice to refine detailed mechanisms involved in damaged DNA repair

Like jewels in a vault, our precious genetic material is stored in the nucleus of a cell--sequestered away from potentially damaging cellular components and toxins so that no harm can come to it. Yet over the course of a life moving through this world, our DNA does get damaged, and our cells have a host of complicated repair mechanisms to deal with such injuries.

13 Apr 2016

Six newly identified proteins may help potentially unlock new insights into aging-related diseases

A group of six newly discovered proteins may help to divulge secrets of how we age, potentially unlocking new insights into diabetes, Alzheimer's, cancer, and other aging-related diseases.

12 Apr 2016

New study suggests that Neanderthals across Europe may have diseases carried out of Africa

A new study suggests that Neanderthals across Europe may well have been infected with diseases carried out of Africa by waves of anatomically modern humans, or Homo sapiens. As both were species of hominin, it would have been easier for pathogens to jump populations, say researchers. This might have contributed to the demise of Neanderthals.

11 Apr 2016

Researchers identify gene crucial to development of coeliac disease

Coeliac disease is a chronic, immunological disease that is manifested as intolerance to gluten proteins present in wheat, rye and barley. This intolerance leads to an inflammatory reaction in the small intestine that hampers the absorption of nutrients. The only treatment is a strict, life-long, gluten-free diet.

11 Apr 2016

How can deep learning impact healthcare?

“Genomic medicine really needs deep learning,” these were the words of keynote speaker Brendan Frey, CEO Deep Genomics at RE-WORK’s Deep Learning in Healthcare Summit 2016.

8 Apr 2016

Keynotes announced for ECCMID 2016

The European Society of Clinical Microbiology and Infectious Diseases (ESCMID) previews some of the keynote lectures at the 26th European Congress of Clinical Microbiology and Infectious Diseases (ECCMID). The globe’s most prominent infection specialists will be gathering at its annual congress in Amsterdam from 9 – 12 April 2016.

8 Apr 2016

Researchers identify severe side effects of Clozapine drug

Clozapine (CLZ) is a "gold standard" drug for managing treatment-resistant schizophrenia (TRS), who do not respond adequately to first-line antipsychotics.

7 Apr 2016

Genome News and Research

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

UC San Diego receives NIH grant to establish interdisciplinary center to combat antibiotic resistance

Scientists use FAN1 knockout mice to refine detailed mechanisms involved in damaged DNA repair

Six newly identified proteins may help potentially unlock new insights into aging-related diseases

New study suggests that Neanderthals across Europe may have diseases carried out of Africa

Researchers identify gene crucial to development of coeliac disease

How can deep learning impact healthcare?

Keynotes announced for ECCMID 2016

Researchers identify severe side effects of Clozapine drug

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

Lab Matters host Harriet Gould on building a more connected lab community

The Critical Role of Sample Storage in Drug Discovery and Development

Advancing Neuroscience Research Through Collaboration and Patient-Centered Innovation

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