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Study sheds light on cataract development

The motion of coins in a "Penny Pusher" carnival game is similar to the movement of cells in the eye's lens, as described in a new study published in Investigative Ophthalmology & Visual Science (IOVS).

27 Mar 2015

Iceland paint a genomic picture for an entire nation

Researchers in Iceland have published the largest ever studies of whole-genome data and effectively deduced the genetic code of “an entire nation.”

26 Mar 2015

New Autism-Causing Genetic Variant Identified

Using a novel approach that homes in on rare families severely affected by autism, a Johns Hopkins-led team of researchers has identified a new genetic cause of the disease. The rare genetic variant offers important insights into the root causes of autism, the researchers say. And, they suggest, their unconventional method can be used to identify other genetic causes of autism and other complex genetic conditions.

26 Mar 2015

Mount Sinai researchers reprogram blood cells into iPSCs to study genetic origins of MDS

Induced pluripotent stem cells (iPSCs) -- adult cells reprogrammed back to an embryonic stem cell-like state--may better model the genetic contributions to each patient's particular disease. In a process called cellular reprogramming, researchers at Icahn School of Medicine at Mount Sinai have taken mature blood cells from patients with myelodysplastic syndrome (MDS) and reprogrammed them back into iPSCs to study the genetic origins of this rare blood cancer.

26 Mar 2015

BeyondSpring files two patent applications to expand therapeutic scope of Plinabulin

BeyondSpring Pharmaceuticals, Inc., a clinical stage biopharmaceutical company focused on the development of innovative cancer therapies, today announced that it has filed two new method of treatment patent applications with the United States Patent and Trademark Office to cover methods of treating brain tumors as well as cancers expressing a mutant form of RAS protein through administration of the Company’s lead compound, Plinabulin.

26 Mar 2015

Arno Therapeutics' AR-42 with cisplatin demonstrates anti-tumor effect in bladder cancer models

Arno Therapeutics, Inc., a clinical stage biopharmaceutical company primarily focused on the development of oncology therapeutics, today announced that data from a preclinical study demonstrate its histone-deacetylase (HDAC) inhibitor AR-42 in combination with cisplatin has a synergistic anti-tumor effect in bladder cancer models.

26 Mar 2015

TSRI scientists identify enzyme that maintains healthy periods of inactivity in HSCs to prevent anemia

Stem cells can generate any type of cell in the body, but they are inactive most of the time—and for good reason. When stem cells become too active and divide too often, they risk acquiring cell damage and mutations. In the case of blood stem cells (also called hematopoietic stem cells or HSCs), this can lead to blood cancers, a loss of blood cells and an impaired ability to fight disease.

26 Mar 2015

Biological clue could help explain why some drinkers can't resist alcohol

Virginia Commonwealth University School of Medicine researchers have discovered a biological clue that could help explain why some drinkers develop a dependence on alcohol and others do not.

25 Mar 2015

Brain-somatic-activating mutations in MTOR cause focal cortical dysplasia type II

Epilepsy is a brain disorder that afflicts more than 50 million people worldwide. Many epilepsy patients can control their symptoms through medication, but about 30% suffer from intractable epilepsy and are unable to manage the disease with drugs. Intractable epilepsy causes multiple seizures, permanent mental, physical, and developmental disabilities, and even death.

25 Mar 2015

Study finds clustered cardiometabolic risk factors in children

Lifestyle-related cardiometabolic risk factors cluster already in children in the same way as in adults, according to research from the University of Eastern Finland. A cardiometabolic risk score was used to evaluate cardiometabolic risk in different age groups.

25 Mar 2015

Broad Institute of MIT researcher honored for groundbreaking research using new gene editing tool

The newest gene editing tool - called CRISPR-Cas9 - is leading to new research possibilities in cell biology and neuroscience. This includes the ability to make transgenic animal models more quickly, which helps researchers better study diseases that affect thousands of people each year.

25 Mar 2015

University of Michigan scientists grow first 3D mini lungs from human stem cells

Scientists from the University of Michigan have grown the first 3D mini lungs from stem cells. The study, published in eLife, compliments other developments in the field such as growing mainly 2D structures and building lung tissue from the scaffold of donated organs.

25 Mar 2015

ItpkB enzyme regulates stem cells function to prevent cancer, anemia

Stem cells can generate any type of cell in the body, but they are inactive most of the time--and for good reason. When stem cells become too active and divide too often, they risk acquiring cell damage and mutations.

24 Mar 2015

Study: Progression of dysfunctional tau protein drives cognitive decline in Alzheimer's disease

By examining more than 3,600 postmortem brains, researchers at Mayo Clinic's campuses in Jacksonville, Florida, and Rochester, Minnesota, have found that the progression of dysfunctional tau protein drives the cognitive decline and memory loss seen in Alzheimer's disease.

24 Mar 2015

Isis Pharmaceuticals announces positive results from ISIS-ANGPTL3Rx Phase 1 study

Isis Pharmaceuticals, Inc. announced today positive results from a Phase 1 study with ISIS-ANGPTL3Rx. In this study, healthy volunteers treated with ISIS-ANGPTL3Rx achieved dose-dependent, statistically significant reductions in angiopoietin-like 3 (ANGPTL3) of up to 93 percent with a mean reduction of up to 84 percent from baseline (p<0.001).

23 Mar 2015

Genetic flaws in bowel cancer may trigger immune response at site of tumours

Scientists have found that genetic changes in bowel tumours are linked to the way the body's immune system responds to the cancer, according to research published today (Monday) in the journal Oncoimmunology.

23 Mar 2015

Existing drugs could help prevent deadly familial stomach and lobular breast cancers

Deadly familial stomach and lobular breast cancers could be successfully treated at their earliest stages, or even prevented, by existing drugs that have been newly identified by cancer genetics researchers at New Zealand's University of Otago.

23 Mar 2015

Discovery may lead to new potential treatment for drug-resistant melanoma

In the last several years, targeted therapies - drugs that directly impact specific genes and proteins involved in the progression of cancer - have been approved for a wide variety of cancers, including melanoma, the deadliest form of skin cancer. Now, researchers at The Wistar Institute have discovered one way in which melanoma becomes resistant to a particular form of targeted therapy, and understanding this phenomenon may lead to a new melanoma target or prompt new designs of these treatments.

23 Mar 2015

MED15 may serve as prognostic marker for HNSCC recurrence

A new study provides the first evidence that the mediator complex subunit 15 (MED15) may play a crucial role in the pathophysiology of head and neck squamous cell carcinoma (HNSCC). MED15 overexpression was found to be associated with higher mortality rates in HNSCC patients with cancer recurrence, particularly in oral cavity/oropharyngeal tumors, according to the study published in The American Journal of Pathology.

21 Mar 2015

Hypermethylation serves as protective barrier inhibiting development of ALS, FTD

Penn Medicine researchers have discovered that hypermethylation - the epigenetic ability to turn down or turn off a bad gene implicated in 10 to 30 percent of patients with Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Degeneration (FTD) - serves as a protective barrier inhibiting the development of these diseases.

21 Mar 2015

Mutation News and Research

Study sheds light on cataract development

Iceland paint a genomic picture for an entire nation

New Autism-Causing Genetic Variant Identified

Mount Sinai researchers reprogram blood cells into iPSCs to study genetic origins of MDS

BeyondSpring files two patent applications to expand therapeutic scope of Plinabulin

Arno Therapeutics' AR-42 with cisplatin demonstrates anti-tumor effect in bladder cancer models

TSRI scientists identify enzyme that maintains healthy periods of inactivity in HSCs to prevent anemia

Biological clue could help explain why some drinkers can't resist alcohol

Brain-somatic-activating mutations in MTOR cause focal cortical dysplasia type II

Study finds clustered cardiometabolic risk factors in children

Broad Institute of MIT researcher honored for groundbreaking research using new gene editing tool

University of Michigan scientists grow first 3D mini lungs from human stem cells

ItpkB enzyme regulates stem cells function to prevent cancer, anemia

Study: Progression of dysfunctional tau protein drives cognitive decline in Alzheimer's disease

Isis Pharmaceuticals announces positive results from ISIS-ANGPTL3Rx Phase 1 study

Genetic flaws in bowel cancer may trigger immune response at site of tumours

Existing drugs could help prevent deadly familial stomach and lobular breast cancers

Discovery may lead to new potential treatment for drug-resistant melanoma

MED15 may serve as prognostic marker for HNSCC recurrence

Hypermethylation serves as protective barrier inhibiting development of ALS, FTD

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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