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Component of grape, citrus fruits block formation of kidney cysts

A new study published today in British Journal of Pharmacology has identified that a component of grapefruit and other citrus fruits, naringenin, successfully blocks the formation of kidney cysts.

3 Oct 2013

Researchers identify mutation in ITGA10 gene that causes chondrodysplasia in dog breeds

Professor Hannes Lohi's research group at the University of Helsinki and Folkhälsan Research Center has identified a mutation in ITGA10 gene, causing chondrodysplasia in two dog breeds, the Norwegian Elkhound and the Karelian Bear Dog.

26 Sep 2013

Research uncovers defective process in patients with autosomal dominant polycystic kidney disease

New research has uncovered a process that is defective in patients with autosomal dominant polycystic kidney disease, a common cause of kidney failure. The findings, which appear in an upcoming issue of the Journal of the American Society of Nephrology (JASN), point to a new potential strategy for preventing and treating the disease.

6 Sep 2013

Study shows link between cerebellum and body's ability to sense movement and limb position

Researchers at the Kennedy Krieger Institute announced today study findings showing, for the first time, the link between the brain's cerebellum and proprioception, or the body's ability to sense movement and joint and limb position.

5 Sep 2013

Genome sequencing promises to identify rare mutations that give rise to autism

An international consortium, consisting of Autism Speaks, Duke University School of Medicine, The Hospital for Sick Children of Toronto, BGI and other institutes, has investigated the genetic variants in 32 families with Autism Spectrum Disorder (ASD).

12 Jul 2013

CSHL scientists solve the mystery of why some infants born with grave syndrome

By identifying a protein that acts as a genetic modifier, scientists at Cold Spring Harbor Laboratory have solved the mystery of why some infants are born with a grave syndrome consisting of cleft palate and major deformities of the skin and limbs, while other infants bearing the same predisposing genetic mutation bear little or no sign of the illness, called EEC.

14 Jun 2013

Ambry Genetics introduces BRCA1 and BRCA2 analysis

Ambry Genetics announced today the launch of BRCA1 and BRCA2 analysis as part of their comprehensive cancer-testing menu. Two genes will be offered as a stand alone test comprising of full gene sequencing and deletion/duplication analyses in addition to being incorporated as part of multiple hereditary cancer panels that test cancer susceptibility genes using next-generation sequencing technology.

14 Jun 2013

Study: Gene mutations are associated with severe form of nearsightedness

People have long taken for granted that glasses and contact lenses improve vision for nearsightedness, but the genetic factors behind the common condition have remained blurry. Now researchers at Duke Medicine are closer to clearing this up.

3 May 2013

New clinical algorithm to treat complex pediatric patients with ARPKD

A collaborative team of physician-scientists at the Medical College of Wisconsin and Children's Hospital of Wisconsin Research Institute has developed a new evidence-based, clinical algorithm to help physicians treat complex patients with autosomal recessive polycystic kidney disease.

29 Apr 2013

FDA grants orphan-drug designation to XEN402 for treatment of pain associated with EM

Teva Pharmaceutical Industries Ltd. and Xenon Pharmaceuticals Inc. announced today that the US Food and Drug Administration has granted orphan-drug designation to the investigational drug XEN402 being developed for the treatment of pain associated with erythromelalgia.

24 Apr 2013

FDA accepts Otsuka Pharmaceutical's tolvaptan NDA for priority review

Otsuka Pharmaceutical Co., Ltd. announced today that the U.S. Food and Drug Administration has accepted for priority review the company's new drug application for the potential use of tolvaptan for the treatment of autosomal dominant polycystic kidney disease.

15 Apr 2013

Alnylam begins dosing in Phase I clinical trial with ALN-TTRsc for treatment of ATTR

Alnylam Pharmaceuticals a leading RNAi therapeutics company, announced today that it has initiated dosing in its Phase I clinical trial with ALN-TTRsc, an RNAi therapeutic targeting transthyretin (TTR) for the treatment of TTR-mediated amyloidosis (ATTR).

19 Mar 2013

Columbia University Medical Center, NewYork-Presbyterian Hospital present research works at AAN meeting

The following research from Columbia University Medical Center and NewYork-Presbyterian Hospital is being presented at the 65th annual meeting of the American Academy of Neurology, March 16-23, 2013, in San Diego.

18 Mar 2013

Pivotal study of olesoxime in Spinal Muscular Atrophy receives positive interim review

Trophos SA, a clinical stage pharmaceutical company developing innovative therapeutics from discovery to clinical validation for under-served medical needs in neurology and cardiology, announced the completion of the interim analysis of the pivotal efficacy study of olesoxime in the rare neurodegenerative condition Spinal Muscular Atrophy (SMA).

1 Mar 2013

Genetic testing strategy for familial high cholesterol questioned

Current testing strategies for the families of patients with familial hypercholesterolemia may not be an efficient use of health resources, suggest study results published in The Lancet.

25 Feb 2013

Microarray analysis ‘best test for prenatal diagnosis’

Chromosomal microarray analysis is able to identify significantly more clinically relevant information for prenatal diagnosis than is karyotyping, and is equally able to highlight aneuploidies and unbalanced rearrangements, US study findings suggest.

10 Dec 2012

Researchers discover new gene for susceptibility to Alzheimer's disease

A large-scale international study involving French researchers from the Inserm-Institut Pasteur Lille-Universit- Lille Nord de France "Public health and molecular epidemiology of ageing-related diseases" joint research unit led by Philippe Amouyel, has just discovered a gene for susceptibility to a rare disease that causes susceptibility to a common one, Alzheimer's disease, providing evidence of the heterogeneous aetiology of Alzheimer's disease.

20 Nov 2012

Tolvaptan improves kidney health in polycystic kidney disease

A vasopressin V2-receptor blocker slows the increase in total kidney volume and decline in kidney function in patients with autosomal dominant polycystic kidney disease, report US researchers.

12 Nov 2012

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety -- but not intelligence -- is linked to poorer adaptive behaviors, such as self-care and communication skills, that affect daily life. The developmental syndrome, which is associated with a constellation of physical, cognitive and psychiatric problems, usually is apparent at birth or early childhood, and leads to lifelong challenges.

6 Nov 2012

Study highlights potential treatment that reduces kidney growth

Autosomal-dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders, affecting one in every 1,000 people and responsible for up to ten percent of patients on dialysis worldwide. The disease is characterized by the development of cysts that lead to progressive kidney failure and necessitate dialysis or a kidney transplant in most patients aged around fifty. Moreover, the persistent cyst growth causes high blood pressure and painful complications.

5 Nov 2012