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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

Yale researchers identify key genetic switch for brain maturation

The flip of a single molecular switch helps create the mature neuronal connections that allow the brain to bridge the gap between adolescent impressionability and adult stability.

7 Mar 2013

Emerging healthcare policy aims at reducing preventable hospital readmissions

Reducing preventable hospital readmissions is a cornerstone of emerging healthcare policy. The U.S. government has developed payment policies that will decrease payments to hospitals with excess patient readmission levels, for example.

7 Mar 2013

Vitamin B12 and folate alleviate negative symptoms in patients with schizophrenia

Adding the dietary supplements folate and vitamin B12 to treatment with antipsychotic medication improved a core symptom component of schizophrenia in a study of more than 100 patients.

7 Mar 2013

Insight into how Th17 cell growth influences development of immune responses

New work from the Broad Institute's Klarman Cell Observatory, Brigham and Women's Hospital, Harvard University, MIT, and Yale University expands the understanding of how one type of immune cell - known as a T helper 17 or Th17 cell - develops, and how its growth influences the development of immune responses.

7 Mar 2013

Researchers discover likely origin of epithelial ovarian cancer

Cornell University researchers have discovered a likely origin of epithelial ovarian cancer (ovarian carcinoma), the fifth leading cause of cancer death among women in the United States.

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

University of Sunderland pharmaceutical scientists receive CFUK grant for research into cystinosis

Pharmaceutical scientists at the University of Sunderland have been awarded £125,000 by the Cystinosis Foundation (CF) UK to fund the next stage of their research into a rare genetic disease.

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

Scientists report successful blocking of tumor development in genetic mouse model of human cancer

UT Southwestern Medical Center scientists report the first successful blocking of tumor development in a genetic mouse model of an incurable human cancer.

6 Mar 2013

Targeting ARF6 may be effectively prevent melanoma metastasis to lungs

Researchers have identified a critical protein role in the metastasis of melanoma, the most serious form of skin cancer.

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

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

Gene cluster implicated in Behçet's disease

Scientists may have uncovered an underlying genetic susceptibility for Behçet's disease in East Asian patients.

5 Mar 2013

Study reveals key predictors of speech gains in children with autism, severe language delay

New findings published in Pediatrics (Epub ahead of print) by the Kennedy Krieger Institute's Center for Autism and Related Disorders reveal that 70 percent of children with autism spectrum disorders who have a history of severe language delay, achieved phrase or fluent speech by age eight.

5 Mar 2013

Schizophrenic people with MIR137 tend to develop illness at younger age

Some of the dramatic differences seen among patients with schizophrenia may be explained by a single gene that regulates a group of other schizophrenia risk genes. These findings appear in a new imaging-genetics study from the Centre for Addiction and Mental Health (CAMH).

5 Mar 2013

KMO gene variant associated with increased production of kynurenic acid

Researchers at Karolinska Institutet in Sweden have found an explanation for why the level of kynurenic acid (KYNA) is higher in the brains of people with schizophrenia or bipolar disease with psychosis. The study, which is published in the scientific periodical Molecular Psychiatry, identifies a gene variant associated with an increased production of KYNA.

5 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

Genetic News and Research

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

Yale researchers identify key genetic switch for brain maturation

Emerging healthcare policy aims at reducing preventable hospital readmissions

Vitamin B12 and folate alleviate negative symptoms in patients with schizophrenia

Insight into how Th17 cell growth influences development of immune responses

Researchers discover likely origin of epithelial ovarian cancer

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

University of Sunderland pharmaceutical scientists receive CFUK grant for research into cystinosis

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

Scientists report successful blocking of tumor development in genetic mouse model of human cancer

Targeting ARF6 may be effectively prevent melanoma metastasis to lungs

Screening healthy adults could potentially prevent rare genetic disorders

SIRT1 gene may be involved in development of type 1 diabetes

Gene cluster implicated in Behçet's disease

Study reveals key predictors of speech gains in children with autism, severe language delay

Schizophrenic people with MIR137 tend to develop illness at younger age

KMO gene variant associated with increased production of kynurenic acid

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

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