Autosomal News and Research

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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

Tolvaptan shows promise in treating autosomal dominant polycystic kidney disease

A drug therapy shows promise for treating an inherited form of kidney disease called autosomal dominant polycystic kidney disease (ADPKD), Mayo Clinic researchers say.

3 Nov 2012

Intellectual disability often results from genetic causes that are not inherited

New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating a low risk of passing on the disorder to further children.

28 Sep 2012

Study finds four different subtypes of breast cancer

In a study published by the journal Nature on Sunday, scientists evaluated breast cancer from a genetic perspective and found distinct genetic differences in patients' tumors. The results of the research point to the fact that analyzing genetics is not only helpful for cancer research, but imperative. Based on the study, scientists conclude that breast cancer can be broken down into four different subtypes.

26 Sep 2012

Potential new drug to treat common inherited kidney disease

Scientists at UC Santa Barbara have demonstrated in the laboratory that a new drug is effective in treating a very common kidney disease -- although it will be a few years before it becomes available for clinical testing. The findings resulted from a collaboration between UCSB and a biotech firm based in Indiana. The study is published in this week's Journal of the American Society of Nephrology.

3 Aug 2012

Alzheimer’s pathology lies silent for decades

The pathologic process of Alzheimer’s disease begins more than 20 years before clinical symptoms become apparent, say researchers.

18 Jul 2012

Mitochondrial gene regulators involved in Huntington’s disease pathology

Researchers have identified two molecules involved in mitochondrial function that appear to be important in the pathogenesis of Huntington’s disease.

16 Jul 2012

Researchers create 'Huntington's disease in a dish' to enable search for treatment

Johns Hopkins researchers, working with an international consortium, say they have generated stem cells from skin cells from a person with a severe, early-onset form of Huntington's disease (HD), and turned them into neurons that degenerate just like those affected by the fatal inherited disorder.

29 Jun 2012

A novel candidate gene in human early-onset degenerative ataxias

Researchers at the University of Helsinki and the Folkh-lsan Research Center, Finland, have identified the genetic cause of early-onset progressive cerebellar degeneration the Finnish Hound dog breed. The study, led by Professor Hannes Lohi, revealed a new disease mechanism in cerebellar degeneration. A mutation was identified in the SEL1L gene, which has no previous link to inherited cerebellar ataxias.

18 Jun 2012

Verinata Health to present two key studies on verifi prenatal test at ISPD conference

Verinata Health, Inc., a privately-held company dedicated to maternal and fetal health, today announced that physicians across the country are now using the verifi prenatal test.

1 Jun 2012

Research grants on facioscapulohumeral dystrophy prove useful as genetic basis is found

Businessman Bill Moss’s determination to fight his untreatable muscle-wasting disease may have paid off. Four years ago, Mr Moss, a former Macquarie Bank Executive Director, established a charitable research foundation, FSHD Global, which partly funded the Italian researchers who made the breakthrough.

8 May 2012

NPS first quarter net loss increases to $10.6 million

NPS Pharmaceuticals, Inc., a specialty pharmaceutical company developing orphan therapeutics for rare gastrointestinal and endocrine disorders, today reported its results for the first quarter of 2012.

4 May 2012

Greenwood launches Syndromic Autism 62-Gene Panel

RainDance Technologies, Inc., the Digital Biology Company, today announced that Greenwood Genetic Center has commercially launched its Syndromic Autism 62-Gene Panel which was built for use on RainDance's picodroplet-based targeted sequencing platform.

29 Mar 2012

EMA grants orphan designations to Ultragenyx UX001, UX003 for treatment of HIBM and MPS 7

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the European Medicines Agency (EMA) has granted orphan drug designations for sialic acid for the treatment of hereditary inclusion body myopathy (HIBM) and recombinant human beta-glucuronidase for the treatment of mucopolysaccharidosis type 7.