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New research article reveals global patterns of genetic variation

New research article reveals global patterns of genetic variation

Published in today's edition of Nature, the research led by Dr Monkol Lek of the University of Sydney and Dr Daniel MacArthur of The Broad Institute of MIT and Harvard Universities reveals patterns of genetic variation worldwide by sequencing the exomes of 60,706 individuals with diverse geographic ancestries, including European, African, South Asian, East Asian and Latino populations. [More]
Scientists discover unexpected functions of snoRNAs that explains cause of some diseases

Scientists discover unexpected functions of snoRNAs that explains cause of some diseases

Scientists have discovered unexpected functions of small nucleolar RNAs (snoRNAs) that explain the cause of some diseases. [More]
Unlocking the first gene to cause otosclerosis: an interview with Dr Ralph Holme

Unlocking the first gene to cause otosclerosis: an interview with Dr Ralph Holme

Otosclerosis is a common cause of hearing loss, particularly amongst young adults. It normally starts in their 20s or 30s and it affects about 1 in 200 hundred people. In the UK, about 300,000 people are affected by the condition. [More]
Genomic cfDNA profiling feasible in metastatic CRPC

Genomic cfDNA profiling feasible in metastatic CRPC

Comprehensive genomic profiling of cell-free DNA can provide clinically useful information in men with castration-resistant prostate cancer treated with enzalutamide, research indicates. [More]
UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

UT Southwestern Medical Center researchers have discovered a mutation that causes a rare systemic disorder known as X-linked reticulate pigmentary disorder (XLPDR) and, significantly, the unexpected cellular mechanism by which the mutation causes the disease. [More]
OGT launches new CytoSure Constitutional v3 +LOH array for genetic analysis of developmental disorders

OGT launches new CytoSure Constitutional v3 +LOH array for genetic analysis of developmental disorders

Oxford Gene Technology, The Molecular Genetics Company, has announced the launch of its new CytoSure Constitutional v3 +LOH array for comprehensive genetic analysis of developmental delay disorders. [More]
Rare ADCY9 mutations linked to non-syndromic oral clefts in Puerto Ricans

Rare ADCY9 mutations linked to non-syndromic oral clefts in Puerto Ricans

Today at the 45th Annual Meeting & Exhibition of the American Association for Dental Research, researcher Carmen Buxó-Martínez, University of Puerto Rico, San Juan, will present a study titled "Identification of Rare ADCY9 Mutations and Non-syndromic Oral Clefts in Puerto Ricans." The AADR Annual Meeting is being held in conjunction with the 40th Annual Meeting of the Canadian Association for Dental Research. [More]
UT Southwestern researchers identify new role for protein linked to neurological disorders and cancers

UT Southwestern researchers identify new role for protein linked to neurological disorders and cancers

Researchers at UT Southwestern Medical Center have identified a second role for a class of RNA-binding proteins, revealing new insights about neurological diseases and conditions associated with this protein such as autism, epilepsy, and certain types of cancer. [More]
Tick genome study sheds light on occurrences of Lyme disease

Tick genome study sheds light on occurrences of Lyme disease

After a decade-long research effort the genome of the deer tick has been sequenced by an international team of scientists, including researchers from the SIB Swiss Institute of Bioinformatics. [More]
Penn investigators devise new method to map 'transcriptome'

Penn investigators devise new method to map 'transcriptome'

A new way of mapping the "transcriptome" -- the collection of RNA read-outs that are expressed by a cell's active genes -- has been devised by researchers from the Perelman School of Medicine at the University of Pennsylvania. [More]
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]
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