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UAB research explores neurofibromatosis type 1

UAB research explores neurofibromatosis type 1

It is easy to tell a medical research story that has a simple and dramatic moment. But disease is often much more complex, and the work to understand it can be painstaking. A vivid example of that is seen in the University of Alabama at Birmingham Medical Genomics Laboratory, headed by Ludwine Messiaen, Ph.D., professor of genetics. This lab offers clinical genetic testing for a broad array of common and rare genetic disorders. [More]
Alternative splicing: a new approach to drug development? An interview with Lucy Donaldson

Alternative splicing: a new approach to drug development? An interview with Lucy Donaldson

RNA is becoming an interesting drug target as it takes possible intervention back one step to the synthesis of a target protein, instead of trying to block or inhibit a process. [More]
New mechanism of differentiation may offer novel therapeutic approaches to blood malignancies, solid tumors

New mechanism of differentiation may offer novel therapeutic approaches to blood malignancies, solid tumors

In humans the differentiation of stem cells into hundreds of specialized cell types is vital. Differentiation drives development from fertilized egg to a newborn, and it underlies the continuous replacement of the 5 billion cells that die every hour in an adult. On the downside, mutations in differentiation pathways of different cell types can be drivers of cancers. [More]
Researchers successfully use CRISPR to treat adult mouse model of Duchenne muscular dystrophy

Researchers successfully use CRISPR to treat adult mouse model of Duchenne muscular dystrophy

Researchers have used CRISPR to treat an adult mouse model of Duchenne muscular dystrophy. This marks the first time that CRISPR has successfully treated a genetic disease inside a fully developed living mammal with a strategy that has the potential to be translated to human therapy. [More]
Researchers identify mechanisms underlying postnatal organ maturation

Researchers identify mechanisms underlying postnatal organ maturation

Any expectant mother will tell you that she wants her baby's organs to develop properly in the womb. What she may not realize, however, is that a child's internal organs continue to develop for months and years after birth. This critical period is full of cellular changes that transform the organization and function of most tissues. But the exact mechanisms underlying postnatal organ maturation are still a mystery. [More]
Resistance to CD19 CAR T-cell therapy can be caused by CD19 splicing alterations

Resistance to CD19 CAR T-cell therapy can be caused by CD19 splicing alterations

Resistance to CD19 CAR T-cell therapy, a type of immunotherapy that yields long-lasting remissions in many patients with B-cell leukemia, can be caused by CD19 splicing alterations, leading to loss of certain parts of the CD19 protein that are recognized by the CAR T cells. [More]
Roche launches the cobas EGFR Mutation Test v2 for use with either plasma or tumour tissue samples

Roche launches the cobas EGFR Mutation Test v2 for use with either plasma or tumour tissue samples

Roche has announced the commercial availability in countries that accept the CE mark1 of the cobas® EGFR Mutation Test v2, the first oncology assay from Roche that utilises either plasma or tumour tissue as a sample. The test identifies 42 mutations in the epidermal growth factor receptor (EGFR) gene, the most of any In-vitro Diagnostic (IVD) on the market, and can also be used as an aid in selecting eligible patients with non-small cell lung cancer (NSCLC) for therapy with an EGFR tyrosine kinase inhibitor (TKI). [More]
New whitepaper describes benefits of using OGT’s CytoSure Medical Research Exome Array in genetic research

New whitepaper describes benefits of using OGT’s CytoSure Medical Research Exome Array in genetic research

Oxford Gene Technology, The Molecular Genetics Company, has been speaking to genetic scientists, Dr Tracey Lewis (Associated Regional and University Pathologists Laboratories) and Dr Emily Farrow (Children’s Mercy Hospital), in a new whitepaper entitled “Examining the Medical Exome”. [More]
New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

About 3% of colorectal cancers are due to Lynch syndrome, an inherited cancer susceptibility syndrome that predisposes individuals to various cancers. Close blood relatives of patients with Lynch syndrome have a 50% chance of inheritance. The role that PMS2 genetic mutations play in Lynch syndrome has been underestimated in part due to technological limitations. [More]
Johns Hopkins researchers discover role of TDP-43 protein in autopsy brain cells of patients with ALS

Johns Hopkins researchers discover role of TDP-43 protein in autopsy brain cells of patients with ALS

Autopsies of nearly every patient with the lethal neurodegenerative disorder amyotrophic lateral sclerosis (ALS), and many with frontotemporal dementia (FTD), show pathologists telltale clumps of a protein called TDP-43. Now, working with mouse and human cells, Johns Hopkins researchers report they have discovered the normal role of TDP-43 in cells and why its abnormal accumulation may cause disease. [More]
NeoGenomics announces launch of new germline cancer predisposition testing services

NeoGenomics announces launch of new germline cancer predisposition testing services

NeoGenomics, Inc., a leading provider of cancer-focused genetic testing services, announced today the launch of a new line of germline cancer predisposition testing services. The new tests include comprehensive testing for BRCA1 and BRCA2 encompassing an analysis of all exons and adjacent intronic regions. [More]
Phase 3 study shows Vectibix meets primary endpoint in patients with chemorefractory wild-type KRAS mCRC

Phase 3 study shows Vectibix meets primary endpoint in patients with chemorefractory wild-type KRAS mCRC

Amgen today announced that a Phase 3 study evaluating Vectibix (panitumumab) and best supportive care (BSC) met its primary endpoint, demonstrating a statistically significant improvement in overall survival (OS) in patients with chemorefractory wild-type KRAS (exon 2) metastatic colorectal cancer (mCRC) compared to those patients treated with BSC alone. [More]
Researchers discover new aspect of gene regulation

Researchers discover new aspect of gene regulation

Researchers at the Max F. Perutz Laboratories of the University of Vienna and the Medical University of Vienna as well as at the University of Natural Resources and Life Sciences in Vienna have discovered an entirely new aspect of gene regulation they call exitron splicing. [More]
Mouse model may help understand the physiology behind complex brain disorders

Mouse model may help understand the physiology behind complex brain disorders

Complex brain disorders, such as autism or schizophrenia, still puzzle scientists because their causes lie hidden in early events of brain development, which are still poorly understood. [More]
Duke researchers demonstrate genetic therapeutic technique to treat DMD patients

Duke researchers demonstrate genetic therapeutic technique to treat DMD patients

Duke researchers have demonstrated a genetic therapeutic technique that has the potential to treat more than half of the patients suffering from Duchenne Muscular Dystrophy (DMD). [More]
Researchers describe key group of small DNA fragments in neurone regulation and maturity

Researchers describe key group of small DNA fragments in neurone regulation and maturity

A study led by researchers from the University of Toronto and involving the Centre for Genomic Regulation in Barcelona has described a group of small DNA fragments that are key in neurone regulation and maturity. [More]
New computational technique reveals genetic roots of autism, cancers

New computational technique reveals genetic roots of autism, cancers

In the decade since the genome was sequenced in 2003, scientists and doctors have struggled to answer an all-consuming question: Which DNA mutations cause disease? [More]
Baylor-led researchers identify gene linked to familial glioma

Baylor-led researchers identify gene linked to familial glioma

An international consortium of researchers led by Baylor College of Medicine has identified for the first time a gene associated with familial glioma (brain tumors that appear in two or more members of the same family) providing new support that certain people may be genetically predisposed to the disease. [More]
Researchers show that iPS cells can be used to edit genetic mutations that cause DMD

Researchers show that iPS cells can be used to edit genetic mutations that cause DMD

Researchers at the Center for iPS Cell Research and Application, Kyoto University, show that induced pluripotent stem (iPS) cells can be used to correct genetic mutations that cause Duchenne muscular dystrophy (DMD). [More]
OGT workshop to focus on using latest genomic technologies for accelerating cancer research

OGT workshop to focus on using latest genomic technologies for accelerating cancer research

Oxford Gene Technology, The Molecular Genetics Company, will present a workshop titled ‘An Integrated Genomic Approach to Tumor Profiling’ at the Association for Molecular Pathology annual meeting on the 12-15th November at National Harbor, MD. [More]
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