Pathophysiology News and Research

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Study reveals novel epilepsy pathway linked to neurodegenerative diseases

A recent scientific discovery showed that mutations in prickle genes cause epilepsy, which in humans is a brain disorder characterized by repeated seizures over time. However, the mechanism responsible for generating prickle-associated seizures was unknown.

23 Jul 2014

Researchers collaborate to tackle rare diseases

Support from a network of leading researchers across Europe specialised in a rare auto-immune disease with unmet medical needs could help test several novel treatments

22 Jul 2014

Researchers propose ‘microbiome cloud model’ to understand variation in individual's microbiome composition

The Human Microbiome Project (HMP) is a global initiative to identify and characterize the microorganisms present at multiple sites in the human body.

22 Jul 2014

New book addresses safe and effective exercises for overweight children

Safe and Effective Exercise for Overweight Youth by Melinda Sothern, PhD, Director of Behavioral & Community Health Sciences and Professor of Research at the LSU Health Sciences Center New Orleans School of Public Health, provides exercise recommendations and guidelines specifically designed for overweight youth.

17 Jul 2014

Study to understand impairments of working memory among patients with schizophrenia

The inability to ignore irrelevant stimuli underlies the impaired working memory and cognition often experienced by individuals diagnosed with schizophrenia, reports a new study in the current issue of Biological Psychiatry.

15 Jul 2014

VENITI’s IDE receives FDA approval for VENITI VICI Venous Stent System

VENITI, Inc., a company dedicated to providing innovative technology for the treatment of venous disease, announced that it has received approval from the United States Food and Drug Administration (FDA) for an Investigational Device Exemption (IDE) to begin the VIRTUS trial of the VENITI VICI Venous Stent System.

14 Jul 2014

Fabry disease awareness: an interview with Dr. Hartmann Wellhoefer, Head of Medical Affairs, Rare Disease, Shire

Lysosomes are subcellular organelles that are present in most cells, with the major exception of red blood cells.

8 Jul 2014

Galderma's trifarotene molecule gets FDA Orphan Drug Designation for treatment of congenital ichthyosis

Galderma announces that the U.S. FDA granted Orphan Drug Designation status for the company's trifarotene molecule for the treatment of congenital ichthyosis. Based on this decision, Galderma plans to implement a clinical development plan, reinforcing its commitment to exploring new treatment options for rare diseases, as well as meeting the needs of all patients with skin diseases over the course of their lives.

2 Jul 2014

Cincinnati Children’s, Alexion Pharmaceuticals establish ‘Rare Disease Innovation Fund’

Alexion Pharmaceuticals, Inc. and Cincinnati Children's Hospital Medical Center today announced the establishment of a collaboration and fund for the advancement of research in rare disease.

23 Jun 2014

Alexion announces that FDA grants ODD to Soliris for Myasthenia Gravis treatment

Alexion Pharmaceuticals (Nasdaq:ALXN) today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation (ODD) to Soliris® (eculizumab) for the treatment of patients with Myasthenia Gravis (MG), a rare, debilitating neurologic disorder caused by uncontrolled complement activation.

17 Jun 2014

Amygdala alterations during childhood may influence development of anxiety problems

The amygdala is a key "fear center" in the brain. Alterations in the development of the amygdala during childhood may have an important influence on the development of anxiety problems, reports a new study in the current issue of Biological Psychiatry.

17 Jun 2014

New path may lead to powerful adjunctive novel therapy for PTSD treatment

There are currently only two FDA-approved medications for the treatment of posttraumatic stress disorder (PTSD) in the United States. Both of these medications are serotonin uptake inhibitors. Despite the availability of these medications, many people diagnosed with PTSD remain symptomatic, highlighting the need for new medications for PTSD treatment.

12 Jun 2014

University of Texas professor to receive Robert K. Chalmers Distinguished Pharmacy Educator Award

The American Association of Colleges of Pharmacy will honor Robert L. Talbert, Pharm.D., B.S., professor of pharmacotherapy in the College of Pharmacy at The University of Texas at Austin, for his excellence as a teacher, his outstanding achievements as an author and mentor, and his overall impact on pharmacy education and the profession.

6 Jun 2014

Cerenis’ SAMBA and MODE Phase II Studies Meet Primary Endpoints for Treatment of FPHA, HoFH

Cerenis Therapeutics, the biopharmaceutical company, today announced that two of its Phase II studies, SAMBA and MODE (Modifying Orphan Disease Evaluation), with CER-001, an engineered human apoA-I-containing pre-β HDL mimetic, met their primary clinical endpoints in patients with Familial Primary Hypoalphalipoproteinemia (FPHA) and Homozygous Familial Hypercholesterolemia (HoFH), respectively.

2 Jun 2014

Elevated blood eosinophil levels find to be risk factor for exacerbations in asthma patients

In adults with persistent asthma, elevated blood eosinophil levels may be able to predict which individuals are at increased risk for exacerbations, according to a new study presented at the 2014 American Thoracic Society International Conference.

21 May 2014

Infosys wins 2014 Simulating Reality contest for innovation in osteoporosis diagnosis

Infosys, a global leader in technology, consulting and outsourcing solutions, has been recognized as a winner in the 2014 Simulating Reality contest. The contest is organized by MSC Software, a worldwide leader of multidisciplinary simulation solutions.

13 May 2014

Pelvic floor prolapse has unclear relationship with urinary symptoms

In women seeking treatment for pelvic floor problems, the severity of pelvic organ prolapse is not independently associated with lower urinary tract symptoms, a study by Spanish researchers has found.

12 May 2014

Scientists identify key molecular switches that control age-related memory impairment

Even among the healthiest individuals, memory and cognitive abilities decline with age. This aspect of normal aging can affect an individual's quality of life and capability to live independently but the rate of decline is variable across individuals.

7 May 2014

Scientists examine how depression increases risk for heart disease and stroke

Scientists have shown that anger, anxiety, and depression not only affect the functioning of the heart, but also increase the risk for heart disease.

6 May 2014

Phosphate linked to cause high blood pressure and heart disease

Researchers find link between phosphate rich foods and an enzyme linked to cardiovascular disease. The findings also link phosphates to renal disease.