Genetic News and Research

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DYNC1H1 genetic mutation contributes to SMA-LED

Scientists have confirmed that mutations of a gene are responsible for some cases of a rare, inherited disease that causes progressive muscle degeneration and weakness: spinal muscular atrophy with lower extremity predominance, also known as SMA-LED.

11 May 2012

MAGI genes play a role in psychiatric disease

These findings are not about the classic story of gift-giving, although the MAGI genes (officially named membrane associated guanylate kinase, WW and PDZ domain containing proteins) do influence brain function in important ways.

11 May 2012

Study: C5ORF42 gene contributes to Joubert Syndrome

History, science and discovery come together to help family members affected by this syndrome make informed family planning choices. C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in the April issue of The American Journal of Human Genetics reveals.

11 May 2012

New University of Florida research center to focus on rare genetic illness

With the support of a Major League Baseball star, a new University of Florida research center on an island settled by the Vikings could lead to breakthroughs about a rare genetic disorder and potentially change the course of care for high blood pressure and other common conditions.

10 May 2012

Fast track approval process for “breakthrough” drugs proposed in the U.S.

Some experimental drugs that show a big effect early in development for treating serious or life-threatening diseases could soon get a faster and cheaper path to U.S. approval, under a proposal likely to become law this year.

10 May 2012

Checking for specific genetic variants can help identify women at high risk of PND

Researchers at Warwick Medical School have discovered a way of identifying which women are most at risk of postnatal depression (PND) by checking for specific genetic variants.

10 May 2012

African Americans have more severe complications from scleroderma

African Americans have more severe complications from systemic sclerosis, also known as scleroderma, than Caucasians. Findings published today in, Arthritis & Rheumatism, a journal of the American College of Rheumatology (ACR), show that compared with Caucasians, African-American patients were more likely to have antibodies that increased frequency and severity of pulmonary fibrosis, which is associated with decreased survival.

10 May 2012

Research with infant twins shows that environmental conditions determine testosterone levels

By comparing the testosterone levels of five-month old pairs of twins, both identical and non-identical, University of Montreal researchers were able to establish that testosterone levels in infancy are not inherited genetically but rather determined by environmental factors. "Testosterone is a key hormone for the development of male reproductive organs, and it is also associated with behavioural traits, such as sexual behaviour and aggression," said lead author Dr. Richard E. Tremblay of the university's Research Unit on Children's Psychosocial Maladjustment.

10 May 2012

New technique measures brain activity in large populations of nerve cells

Researchers have developed a new technique which allows them to measure brain activity in large populations of nerve cells at the resolution of individual cells. The technique, reported today in the journal Nature, has been developed in zebrafish to represent a simplified model of how brain regions work together to flexibly control behaviour.

10 May 2012

Genes determine brain size: Global brain study

In the world's largest study of the human brain, involving more than 200 scientists worldwide, researchers have found that genes that affect brain size may play a part in intelligence and memory function. The study was put together by combining brain scans and genetic data from 21,000 people worldwide.

10 May 2012

Researchers use clever screening methods to speed vaccine production

Infectious diseases-both old and new-continue to exact a devastating toll, causing some 13 million fatalities per year around the world. Vaccines remain the best line of defense against deadly pathogens and now Kathryn Sykes and Stephen Johnston, researchers at Arizona State University's Biodesign Institute, along with co-author Michael McGuire from the University of Texas Southwestern Medical Center are using clever functional screening methods to attempt to speed new vaccines into production that are both safer and more potent.

10 May 2012

Scientists develop new method to directly identify miRNA targets in cells

Human cells are thought to produce thousands of different microRNAs (miRNAs)-small pieces of genetic material that help determine which genes are turned on or off at a given time. miRNAs are an important part of normal cellular function, but they can also contribute to human disease-some are elevated in certain tumors, for example, where they promote cell survival.

10 May 2012

Article evaluates benefits and costs of screening programs for prevention of SCD

An article, published in Circulation by Laurel K. Leslie, MD, MPH from the Tufts Clinical and Translational Science Institute (CTSI) and colleagues from Tufts Medical Center and Floating Hospital for Children at Tufts Medical Center, has evaluated the lifesaving benefits and costs of screening programs for the prevention of sudden cardiac death (SCD) in children and adolescents.

10 May 2012

Human Gene Therapy highlights new advances in human retinal disease

Gene therapy strategies to prevent and treat inherited diseases of the retina that can cause blindness have progressed rapidly. Positive results in animal models of human retinal disease continue to emerge, as reported in several articles published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

9 May 2012

Researchers develop potent new drug that can kill tumor cells

All cells have the ability to recycle unwanted or damaged proteins and reuse the building blocks as food. But cancer cells have ramped up the system, called autophagy, and rely on it to escape damage in the face of chemotherapy and other treatments. Now, researchers at the Perelman School of Medicine; the Abramson Cancer Center; and the School of Arts and Sciences, at the University of Pennsylvania, have developed a potent new drug that clogs up the recycling machinery and kills tumor cells in mouse models.

9 May 2012

Study: Y and W chromosomes are very important in fertility

The study, published yesterday in the journal Proceedings of the National Academy of Sciences (PNAS), looked at how genes on sex-linked chromosomes are passed down generations and linked to fertility, using the specific example of the W chromosome in female chickens.

9 May 2012

Current anticoagulant therapy to prevent stroke might not be sufficient for older women with AF

In a study that examined use of the anticoagulant medication warfarin and risk of stroke following a diagnosis of atrial fibrillation in older patients, women, especially those 75 years or older, had a higher risk of stroke than men, regardless of their risk profile and use of warfarin, suggesting that current anticoagulant therapy to prevent stroke might not be sufficient for older women, according to a study in the May 9 issue of JAMA.

9 May 2012

Two studies suggest long-term value of Deplin in treating MDD

Two studies presented this week at the 164th Annual Meeting of the American Psychiatric Association suggest the long-term value of Deplin (L-methylfolate 15mg) in treating major depressive disorder (MDD) and describe subsets of patients who may benefit more robustly from this medical food.

9 May 2012

Strategies for heart repair to be addressed at UH lecture

With the heart having limited ability to regenerate following injury, heart disease is the primary cause of morbidity and mortality in the developed world. Research impacting strategies for heart repair will be addressed during a lecture May 15 at the University of Houston (UH).

9 May 2012

Study shows how adolescent cannabis use can cause schizophrenia

New research from the Royal College of Surgeons in Ireland (RCSI) published in Nature's Neuropsychopharmacology has shown physical changes to exist in specific brain areas implicated in schizophrenia following the use of cannabis during adolescence. The research has shown how cannabis use during adolescence can interact with a gene, called the COMT gene, to cause physical changes in the brain.

9 May 2012