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Abnormal breakage of chromosomes in white blood cells triggers aggressive form of ALL

A research team led by St. Jude Children's Research Hospital scientists has discovered details of how the abnormal breakage and rearrangement of chromosomes in white blood cells triggers a particularly aggressive form of acute lymphoblastic leukemia (ALL). Such leukemias are cancers of white blood cells, in which genetic mutations trigger overproduction of immature cells, called lymphoblasts.

9 Feb 2016

TBX5 gene expression could play key role in congenital heart disease

Congenital heart disease is the most common birth defect and the leading cause of all infant deaths in the United States. Mutations in the gene TBX5 have been shown to cause both rare and more prevalent forms of congenital heart disease, yet the underlying mechanisms have remained unclear.

9 Feb 2016

Positive data on ability of MyoKardia’s MYK-461 to prevent development of HCM published in Science

MyoKardia, Inc., a clinical stage biopharmaceutical company pioneering a precision medicine approach for the treatment of heritable cardiovascular diseases, today announced the publication of an article in the leading medical journal Science.

8 Feb 2016

LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

The London-based LouLou Foundation and the Orphan Disease Center of the Perelman School of Medicine at the University of Pennsylvania have established a Program of Excellence to develop effective treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures.

8 Feb 2016

Scientists develop potential treatment to prevent hypertrophic cardiomyopathy

More than 15 years ago, David Warshaw, Ph.D., and coworkers discovered the precise malfunction of a specific protein in the heart that leads to hypertrophic cardiomyopathy, a common culprit in cases of sudden death in young athletes.

7 Feb 2016

Duke scientists reveal how gut inflammation increases colon cancer risk

Chronic inflammation in the gut increases the risk of colon cancer by as much as 500 percent, and now Duke University researchers think they know why.

5 Feb 2016

NIH researchers identify genetic mutation responsible for vibratory urticaria

Scientists at the National Institutes of Health have identified a genetic mutation responsible for a rare form of inherited hives induced by vibration, also known as vibratory urticaria. Running, hand clapping, towel drying or even taking a bumpy bus ride can cause temporary skin rashes in people with this rare disorder.

4 Feb 2016

U.S. panel endorses “three-parent” IVF technique

An expert committee have recommended that the U.S. government allows the clinical investigation of mitochondrial replacement techniques (MRT) to go ahead.

4 Feb 2016

BMPR2 mutations affect outcomes of PAH patients

Mutations in the bone morphogenetic protein receptor type II gene affect not only the risk of developing pulmonary arterial hypertension but also the severity and outcomes of the disease, shows a meta-analysis of individual patient data.

4 Feb 2016

Study finding could shed light on molecular mechanisms underlying Huntington's disease

Researchers at the University of Pittsburgh School of Medicine have shown that the core of the protein clumps found in the brains of people with Huntington's disease have a distinctive structure, a finding that could shed light on the molecular mechanisms underlying the neurodegenerative disorder.

4 Feb 2016

AstraZeneca’s TAGRISSO (osimertinib) approved in EU for metastatic EGFR T790M mutation-positive NSCLC

AstraZeneca today announced that the European Commission (EC) has granted conditional marketing authorisation for TAGRISSO™ (AZD9291, osimertinib) 80mg once-daily tablets for the treatment of adult patients with locally advanced or metastatic epidermal growth factor receptor (EGFR) T790M mutation-positive non-small cell lung cancer (NSCLC).

4 Feb 2016

'Housekeeping' gene may have a link to male infertility

Researchers at Iowa State University have found evidence that a "housekeeping" gene present in every cell of the body may have a link to male infertility.

3 Feb 2016

Small minority of cancer cells contribute to growth and metastasis of tumours

New research shows that a small minority of cancer cells in neuroendocrine tumours of the pancreas contribute to the overall growth and metastasis of the tumour. This discovery was made by a research group at Lund University, in collaboration with researchers at Karolinska Institutet, in Sweden.

3 Feb 2016

Researchers identify new targets that may help prevent and cure colon cancer

When the audio on your television set or smart phone is too loud, you simply turn down the volume. What if we could do the same for the signaling in our bodies that essentially causes normal cells to turn cancerous? New discoveries by researchers at the Stephenson Cancer Center at the University of Oklahoma may point to new ways to do just that.

3 Feb 2016

Pluripotent stem cells could serve as valuable model for understanding Andersen's syndrome

Successful reprogramming of muscle cells derived from biopsies of patients with Andersen's syndrome (AS) led to the formation of induced pluripotent stem (iPS) cells that can serve as a valuable model for understanding the cause of this rare disorder and discovering novel therapies.

3 Feb 2016

New gene cut-and-paste methods help correct disease-causing mutation in animal model

For the first time, researchers have treated an animal model of a genetic disorder using a viral vector to deliver genome-editing components in which the disease- causing mutation has been corrected.

3 Feb 2016

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.

3 Feb 2016

New drug cocktail may show promise in NSCLC patients

A drug approved by the Food and Drug Administration for melanoma in combination with a common cholesterol-lowering drug may show promise in controlling cancer growth in patients with non-small cell lung cancer (NSCLC), according to new research from the Icahn School of Medicine at Mount Sinai.

3 Feb 2016

Genetic profiling ‘feasible’ for paediatric cancer patients

Research published in JAMA Oncology demonstrates that tumour and germline molecular profiling is feasible in paediatric cancer patients and can have actionable findings.

2 Feb 2016

New way to more efficiently deliver CRISPR/Cas9 therapeutic to mice with Tyrosinemia type I

University of Massachusetts Medical School researchers have found a way to more efficiently delivery a CRISPR/Cas9 therapeutic to adult mice with the metabolic disease Tyrosinemia type I that may also prove to be safer for use in humans.

2 Feb 2016

Mutation News and Research

Abnormal breakage of chromosomes in white blood cells triggers aggressive form of ALL

TBX5 gene expression could play key role in congenital heart disease

Positive data on ability of MyoKardia’s MYK-461 to prevent development of HCM published in Science

LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

Scientists develop potential treatment to prevent hypertrophic cardiomyopathy

Duke scientists reveal how gut inflammation increases colon cancer risk

NIH researchers identify genetic mutation responsible for vibratory urticaria

U.S. panel endorses “three-parent” IVF technique

BMPR2 mutations affect outcomes of PAH patients

Study finding could shed light on molecular mechanisms underlying Huntington's disease

AstraZeneca’s TAGRISSO (osimertinib) approved in EU for metastatic EGFR T790M mutation-positive NSCLC

'Housekeeping' gene may have a link to male infertility

Small minority of cancer cells contribute to growth and metastasis of tumours

Researchers identify new targets that may help prevent and cure colon cancer

Pluripotent stem cells could serve as valuable model for understanding Andersen's syndrome

New gene cut-and-paste methods help correct disease-causing mutation in animal model

UAB research explores neurofibromatosis type 1

New drug cocktail may show promise in NSCLC patients

Genetic profiling ‘feasible’ for paediatric cancer patients

New way to more efficiently deliver CRISPR/Cas9 therapeutic to mice with Tyrosinemia type I

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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