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Planar cell polarity genes control connectivity of enteric neurons

The enteric nervous system (ENS), the "little brain" that resides within the gut wall, governs motility, secretion, and blood flow in the human gastrointestinal tract. Failure of the ENS to develop normally leads to congenital megacolon (Hirschsprung Disease) while loss of normal gut innervation is thought to contribute to debilitating motility disorders, such as irritable bowel syndrome.

11 Mar 2013

Researchers discover ovarian stem-like epithelial cells that can mutate to form tumors

In collaboration with colleagues at Cornell University, a team of cancer researchers at Cold Spring Harbor Laboratory (CSHL) has discovered cells with stem-cell properties in the ovary that can mutate to form tumors.

8 Mar 2013

Researchers explore genetic testing to identify people at high risk for preventable disease

In ten years time, routine preventive health care for adults may include genetic testing alongside the now familiar tests for cholesterol levels, mammography and colonoscopy.

8 Mar 2013

Salk epigenetic findings may aid in crop production and study of human diseases

Scientists at the Salk Institute for Biological Studies have identified patterns of epigenomic diversity that not only allow plants to adapt to various environments, but could also benefit crop production and the study of human diseases.

7 Mar 2013

Study now tells physicians that dystonia can occur in African-American patients

A pair of studies tells the tale of how a neuroscientist at Mayo Clinic in Florida helped to discover the first African-American family to have inherited the rare movement disorder dystonia, which causes repetitive muscle contractions and twisting, resulting in abnormal posture.

7 Mar 2013

‘New Frontiers in Neurodegenerative Disease Research’ symposium to be held from Feb. 4-7

At the Keystone Symposium "New Frontiers in Neurodegenerative Disease Research," held 4-7 February in Santa Fe, New Mexico, researchers explored the processes that lead to a variety of diseases, including Alzheimer's and Lou Gehrig's disease (amyotrophic lateral sclerosis, ALS).

7 Mar 2013

BIDMC investigator receives $50,000 CCF grant for research on pediatric cardiomyopathy

Maria Kontaridis, PhD, an investigator in the Division of Cardiology at Beth Israel Deaconess Medical Center (BIDMC), has received a $50,000 grant from the Children's Cardiomyopathy Foundation (CCF) for her research on pediatric cardiomyopathy.

7 Mar 2013

Study combines induced pluripotent stem cell technology and genetic correction to treat DMD

Researchers at the University of Minnesota's Lillehei Heart Institute have combined genetic repair with cellular reprogramming to generate stem cells capable of muscle regeneration in a mouse model for Duchenne Muscular Dystrophy (DMD).

7 Mar 2013

Researchers discover how LRRK2 mutations in familial Parkinson's damage brain cells

Researchers at Columbia University Medical Center (CUMC), with collaborators at the Albert Einstein College of Medicine of Yeshiva University, have discovered how the most common genetic mutations in familial Parkinson's disease damage brain cells.

6 Mar 2013

Screening healthy adults could potentially prevent rare genetic disorders

Millions of people unknowingly carry rare gene mutations that put them at high risk of developing preventable diseases such as colorectal cancer, breast cancer, and several catastrophic blood vessel disorders.

6 Mar 2013

Scientists discover key biochemical step underlying heart failure

Some 5.8 million Americans suffer from heart failure, a currently incurable disease. But scientists at Temple University School of Medicine's (TUSM) Center for Translational Medicine have discovered a key biochemical step underlying the condition that could aid the development of new drugs to treat and possibly prevent it.

6 Mar 2013

SIRT1 gene may be involved in development of type 1 diabetes

A JDRF-funded study out of Switzerland has shown that a single gene called SIRT1 may be involved in the development of type 1 diabetes (T1D) and other autoimmune diseases. The study, "Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes," was published today in Cell Metabolism and represents the first demonstration of a monogenetic defect leading to the onset of T1D.

6 Mar 2013

HIV might promote aging and disease progression in people with HCV, study results suggest

Infectious disease experts at Johns Hopkins have found that among people infected with the hepatitis C virus, co-infection with HIV, speeds damage and scarring of liver tissue by almost a decade.

5 Mar 2013

Horizon forms 3 new Centers of Excellence for gene editing in Asia

Horizon Discovery (Horizon), a leading provider of research tools to support the development of personalized medicines, today announced it has established three new Centers of Excellence (CoE's) for gene editing in Asia.

4 Mar 2013

Researchers discover new candidate disease proteins for neurodegenerative disorders

A multi-institution group of researchers has found new candidate disease proteins for neurodegenerative disorders.

4 Mar 2013

Study identifies how new ALS gene mutations cause other diseases of the brain, muscle and bone

Researchers supported by The ALS Association have discovered how mutations in new amyotrophic lateral sclerosis (ALS) genes cause not only ALS but also other diseases of the brain, muscle and bone.

4 Mar 2013

Prompt antiretroviral therapy may help infants clear the HIV and achieve long-term remission

A team of researchers from Johns Hopkins Children's Center, the University of Mississippi Medical Center and the University of Massachusetts Medical School describe the first case of a so-called "functional cure" in an HIV-infected infant. The finding, the investigators say, may help pave the way to eliminating HIV infection in children.

4 Mar 2013

Mutation News and Research

Planar cell polarity genes control connectivity of enteric neurons

Researchers discover ovarian stem-like epithelial cells that can mutate to form tumors

Researchers explore genetic testing to identify people at high risk for preventable disease

Salk epigenetic findings may aid in crop production and study of human diseases

Study now tells physicians that dystonia can occur in African-American patients

‘New Frontiers in Neurodegenerative Disease Research’ symposium to be held from Feb. 4-7

BIDMC investigator receives $50,000 CCF grant for research on pediatric cardiomyopathy

Study combines induced pluripotent stem cell technology and genetic correction to treat DMD

Researchers discover how LRRK2 mutations in familial Parkinson's damage brain cells

Screening healthy adults could potentially prevent rare genetic disorders

Scientists discover key biochemical step underlying heart failure

SIRT1 gene may be involved in development of type 1 diabetes

HIV might promote aging and disease progression in people with HCV, study results suggest

Horizon forms 3 new Centers of Excellence for gene editing in Asia

Researchers discover new candidate disease proteins for neurodegenerative disorders

Study identifies how new ALS gene mutations cause other diseases of the brain, muscle and bone

Prompt antiretroviral therapy may help infants clear the HIV and achieve long-term remission

Researchers discover how LRRK2 mutations in familial Parkinson's damage brain cells

Study identifies two gene mutations that lead to death of nerve cells in ALS

Significant link between defective viruses and increased rate of transmission of major disease

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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