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MSK researchers publish new review that focuses on genome-driven oncology

Researchers from Memorial Sloan Kettering Cancer Center today published a seminal review of the rapidly evolving field of precision oncology, which allows doctors to recommend therapies based on a genetic understanding of a person's cancer.

9 Feb 2017

Genetic profiling of blood cells can predict response to stem cell transplant for patients with MDS

A single blood test and basic information about a patient's medical status can indicate which patients with myelodysplastic syndrome (MDS) are likely to benefit from a stem cell transplant, and the intensity of pre-transplant chemotherapy and/or radiation therapy that is likely to produce the best results, according to new research by scientists at Dana-Farber Cancer Institute and Brigham and Women's Hospital.

9 Feb 2017

FDA approves new treatment for wide range of patients with Duchenne muscular dystrophy

The U.S. Food and Drug Administration today approved Emflaza (deflazacort) tablets and oral suspension to treat patients age 5 years and older with Duchenne muscular dystrophy (DMD), a rare genetic disorder that causes progressive muscle deterioration and weakness.

9 Feb 2017

Study discovers new form of congenital muscular dystrophy caused by faulty INPP5K gene

A new form of congenital muscular dystrophy has been discovered which is caused by mutations in a previously un-linked gene.

9 Feb 2017

Study suggests new ways to treat neurological symptoms linked to tuberous sclerosis complex

Boston Children's Hospital researchers have uncovered a new molecular pathway that inhibits the myelination of neurons in the brains of patients with the rare genetic disorder tuberous sclerosis complex.

9 Feb 2017

Scientists develop computer models to predict mutations’ effect on pairs of proteins

According to new research, the key to a successful, long-term relationship is for each partner to adapt to the other's changes over time.

9 Feb 2017

Study sheds light on role of brain region in social behavior and pathology in autism

Researchers at Rosalind Franklin University of Medicine and Science have induced empathy-like behavior by identifying then manipulating a brain circuit in an experimental model, an indication that new strategies may help people with autism spectrum disorder gain social abilities.

8 Feb 2017

Study sheds light on role of Armc5 protein in foetal development and T-cell immune responses

Genetic mutations of the Armc5 gene disrupt foetal development and compromise the immune response.

8 Feb 2017

Study suggests that iPSCs do not develop more mutations than subcloned cells

It's been more than 10 years since Japanese researchers Shinya Yamanaka, M.D., Ph.D., and his graduate student Kazutoshi Takahashi, Ph.D., developed the breakthrough technique to return any adult cell to its earliest stage of development (a pluripotent stem cell) and change it into different types of cells in the body.

8 Feb 2017

Study finds link between breast density and contralateral breast cancer

Breast cancer patients with dense breast tissue have almost a two-fold increased risk of developing disease in the contralateral breast, according to new research from The University of Texas MD Anderson Cancer.

8 Feb 2017

Studies open new windows into understanding untreatable group of common genetic disorders

Two Princeton University studies are opening important new windows into understanding an untreatable group of common genetic disorders known as RASopathies that are characterized by distinct facial features, developmental delays, cognitive impairment and heart problems.

7 Feb 2017

Mutated genes lead to tooth enamel defects that increase risk of caries

Bacteria are not the sole cause of caries; tooth resistance also plays an instrumental role. Researchers from the University of Zurich demonstrate that mutated genes lead to defects in the tooth enamel and can therefore encourage the development of caries.

7 Feb 2017

Researchers create first animal model of rare disease linked to problem of adrenal glands

The name of the gene is Armc5, for Armadillo repeat containing 5. Until now, its function was unknown. After 10 years of research, a team at the University of Montreal Hospital Research Centrehas succeeded in deleting this gene in experimental mice and discovered that its loss gives rise to a heretofore unidentified syndrome.

7 Feb 2017

Scientists use brain organoids to identify root causes of Miller-Dieker syndrome

Research led by scientists at UC San Francisco and Case Western Reserve University School of Medicine has used brain "organoids" — tiny 3D models of human organs that scientists grow in a dish to study disease — to identify root causes of Miller-Dieker Syndrome (MDS), a rare genetic disorder that causes fatal brain malformations.

7 Feb 2017

Researchers discover survival strategy that bacteria can use to outsmart human immune response

Researchers at the Hebrew University of Jerusalem have discovered a survival strategy that harmful bacteria can use to outsmart the human immune response, resulting in more severe and persistent infections and more effective spreading from person to person.

7 Feb 2017

Next-generation sequencing assay shows accuracy, sensitivity in detecting genetic mutations in tumors

One of the most promising areas of cancer research is personalized therapy using precision medicine. The National Cancer Institute's NCI-MATCH is a large, ongoing clinical trial that matches tumors to therapies based on the tumor's genetic characteristics.

7 Feb 2017

Scientists identify structure of androgenic receptor essential to fight against prostate cancer

A team led by researchers of the Institute of Biomedicine of the University of Barcelona and the Research Institute of the Hospital de la Santa Creu i Sant Paushows for the first time, the three-dimensional structure of the homodimeric androgen receptor ligand-binding domain, a structure that eluded researchers for years.

6 Feb 2017

Mutation News and Research

MSK researchers publish new review that focuses on genome-driven oncology

Genetic profiling of blood cells can predict response to stem cell transplant for patients with MDS

FDA approves new treatment for wide range of patients with Duchenne muscular dystrophy

Study discovers new form of congenital muscular dystrophy caused by faulty INPP5K gene

Study suggests new ways to treat neurological symptoms linked to tuberous sclerosis complex

Scientists develop computer models to predict mutations’ effect on pairs of proteins

Study sheds light on role of brain region in social behavior and pathology in autism

Study sheds light on role of Armc5 protein in foetal development and T-cell immune responses

Study suggests that iPSCs do not develop more mutations than subcloned cells

Study finds link between breast density and contralateral breast cancer

Studies open new windows into understanding untreatable group of common genetic disorders

Mutated genes lead to tooth enamel defects that increase risk of caries

Researchers create first animal model of rare disease linked to problem of adrenal glands

Scientists use brain organoids to identify root causes of Miller-Dieker syndrome

Researchers discover survival strategy that bacteria can use to outsmart human immune response

Next-generation sequencing assay shows accuracy, sensitivity in detecting genetic mutations in tumors

Scientists identify structure of androgenic receptor essential to fight against prostate cancer

Transporters of thyroid hormones play key role in development of the brain, study finds

Detailed analysis of bacterial proteins offers path for new drugs to curb tuberculosis

TGen scientists identify novel genomic mutation that causes developmental delays in children

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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