Metabolic Disorders News and Research

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European scientists set up new therapeutic approaches to tackle gene defects

On 15th April is the 1st International Pompe Disease Day, a campaign to raise awareness of this rare but severe gene defect. Pompe Disease is only one of more than 40 metabolic disorders that mainly affect children under the age of 10, often with devastating consequences.

15 Apr 2014

Researchers discover hotspot L205R mutation is closely associated with adrenocortical tumors

Chinese researchers from Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, BGI, and other institutions have discovered that the activating hotspot L205R mutation in PRKACA gene was closely associated with adrenocortical tumors (ACTs), and the relationship of recurrently mutated DOT1L and CLASP2 with ACTs' other subtypes.

7 Apr 2014

New research shows obesity is linked to our ability to digest carbohydrates

New research indicates that obesity in the general population may be genetically linked to how our bodies digest carbohydrates.

1 Apr 2014

Whole-genome sequencing in newborns could help detect, manage wide array of disorders

Should whole-genome sequencing be used in the public-health programs that screen newborns for rare conditions?

29 Mar 2014

Sufficient sleep can prevent and reverse metabolic disorders

Evidence increasingly suggests that insufficient or disturbed sleep is associated with metabolic disorders such as type 2 diabetes and obesity, and addressing poor quality sleep should be a target for the prevention – and even treatment – of these disorders, say the authors of a Review, published in The Lancet Diabetes & Endocrinology journal.

26 Mar 2014

High-protein meal and exercise recipe for calorie-burning in some women

New research shows that for some women, a high-protein meal followed by 30 minutes of moderate exercise is an effective way of burning calories, especially when compared to exercising on an empty stomach.

24 Mar 2014

New tool pinpoints genetic sources of disease

Many diseases are the result of either variations in the genome or reversible chemical changes to DNA, known as the epigenome. New data obtained by Johns Hopkins scientists show a connection between genetic variants and epigenetic information.

20 Mar 2014

New data shows curative effects of GFT505 in NASH associated with metabolic disorders

GENFIT, a biopharmaceutical company at the forefront of drug discovery and development, focusing on the early diagnosis and preventive treatment of cardiometabolic and associated disorders, today announces new data from Professor Isabelle Leclercq of Université Catholique de Louvain (Belgium) demonstrating the curative effects of GFT505 in an experimental model of NASH associated with metabolic disorders.

20 Mar 2014

New insight into mammalian circadian rhythms could lead to therapies for metabolic disorders

We've all heard about circadian rhythm, the roughly 24-hour oscillations of biological processes that occur in many living organisms. Yet for all its influence in many aspects of our lives - from sleep to immunity and, particularly, metabolism - relatively little is understood about the mammalian circadian rhythm and the interlocking processes that comprise this complex biological clock.

30 Jan 2014

Johns Hopkins researchers discover epilepsy drug reduces obesity-related blood sugar levels

Johns Hopkins researchers have discovered that valproic acid, a widely prescribed drug for treating epilepsy, has the additional benefits of reducing fat accumulation in the liver and lowering blood sugar levels in the blood of obese mice.

30 Jan 2014

Covidien officially opens first training and education center in Mumbai, India

Further developing its capabilities in a key emerging market, Covidien has officially opened its first training and education center in India. The Covidien Center of Innovation India, located in Mumbai, offers clinicians training on advanced procedures and techniques using leading equipment and technology.

23 Jan 2014

New research shows that as we age, the thermogenic activity of brown fat gets reduced

As most people resolve themselves to lose weight this New Year, here's why it seems to get easier and easier to pack on unwanted pounds: New research published in the January 2014 issue of The FASEB Journal, shows that as we age, the thermogenic activity of brown fat is reduced. Brown fat is a "good" fat located in the backs of our necks that helps burn "bad" white fat around our bellies. Additionally, the researchers also discovered a possible metabolic on/off switch that could reactivate brown fat.

2 Jan 2014

UC Irvine scientists find that reprogramming of liver 'clock' may contribute to metabolic disorders

A high-fat diet affects the molecular mechanism controlling the internal body clock that regulates metabolic functions in the liver, UC Irvine scientists have found. Disruption of these circadian rhythms may contribute to metabolic distress ailments, such as diabetes, obesity and high blood pressure.

20 Dec 2013

New guidelines to manage heart failure in children

Heart failure in children is an important cause of childhood health problems and death. The Children's Heart Failure Study Group of the Canadian Cardiovascular Society, in collaboration with the Canadian Pediatric Cardiology Association, has developed new guidelines to assist practitioners in primary care and emergency departments to recognize and successfully manage heart failure in children with undiagnosed heart disease and symptoms of possible heart failure.

12 Dec 2013

FDA Advisory Committee recommends metreleptin for treatment of generalized lipodystrophy

AstraZeneca and Bristol-Myers Squibb Company (NYSE:BMY) today announced the U.S. Food and Drug Administration's (FDA) Endocrinologic and Metabolic Drugs Advisory Committee (EMDAC) recommends the investigational medicine metreleptin for the treatment of pediatric and adult patients with generalized lipodystrophy (LD).

12 Dec 2013

New guidelines developed to manage heart failure in children with undiagnosed heart disease

12 Dec 2013

Study defines HRV reference values for children

Measurement of heart rate variability (HRV) is a useful method when assessing the role of the nervous system for heart function. Standard reference values for heart rate variability in adults have existed for a long time already, but similar values have not been available for children until now.

26 Nov 2013

Study suggests potential new treatment for seizures

A study out today in the journal Nature Medicine suggests a potential new treatment for the seizures that often plague children with genetic metabolic disorders and individuals undergoing liver failure. The discovery hinges on a new understanding of the complex molecular chain reaction that occurs when the brain is exposed to too much ammonia.

17 Nov 2013

Three research groups awarded NIH grants to develop framework for evaluating genetic variants

Three grants totaling more than $25 million over four years will help three research groups to develop authoritative information on the millions of genomic variants relevant to human disease and the hundreds that are expected to be useful for clinical practice. The awards are from the National Institutes of Health.

26 Sep 2013

Understanding genetic, physiological basis for metabolic diseases related to circadian function

A new study by a team of University of Notre Dame researchers, which appears in the Sept. 2 edition of the journal PLoS ONE, is a significant step in understanding the molecular genetic and physiological basis for a spectrum of metabolic diseases related to circadian function.

24 Sep 2013

Metabolic Disorders News and Research

European scientists set up new therapeutic approaches to tackle gene defects

Researchers discover hotspot L205R mutation is closely associated with adrenocortical tumors

New research shows obesity is linked to our ability to digest carbohydrates

Whole-genome sequencing in newborns could help detect, manage wide array of disorders

Sufficient sleep can prevent and reverse metabolic disorders

High-protein meal and exercise recipe for calorie-burning in some women

New tool pinpoints genetic sources of disease

New data shows curative effects of GFT505 in NASH associated with metabolic disorders

New insight into mammalian circadian rhythms could lead to therapies for metabolic disorders

Johns Hopkins researchers discover epilepsy drug reduces obesity-related blood sugar levels

Covidien officially opens first training and education center in Mumbai, India

New research shows that as we age, the thermogenic activity of brown fat gets reduced

UC Irvine scientists find that reprogramming of liver 'clock' may contribute to metabolic disorders

New guidelines to manage heart failure in children

FDA Advisory Committee recommends metreleptin for treatment of generalized lipodystrophy

New guidelines developed to manage heart failure in children with undiagnosed heart disease

Study defines HRV reference values for children

Study suggests potential new treatment for seizures

Three research groups awarded NIH grants to develop framework for evaluating genetic variants

Understanding genetic, physiological basis for metabolic diseases related to circadian function

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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