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Study: Pravastatin slows down growth of kidney cysts in children, young adults with ADPKD

Results from a study by University of Colorado School of Medicine researchers show that pravastatin, a medicine widely used for treatment of high cholesterol, also slows down the growth of kidney cysts in children and young adults with autosomal dominant polycystic kidney disease (ADPKD).

9 May 2014

Diagnosis of Huntington's disease requires combination of clinical symptoms, radiological changes, genetic diagnosis

Huntington's disease is an autosomal-dominant inherited neurodegenerative disease with a distinct phenotype, but the pathogenesis is unclear.

6 May 2014

Positive results from pivotal clinical trial of Trophos’ olesoxime in SMA patients to be presented at AAN 2014

Trophos and AFM-Telethon today announce that data from the pivotal clinical trial of Trophos’ lead product candidate olesoxime in spinal muscular atrophy (SMA) will be presented during the 66th American Academy of Neurology annual meeting to be held in Philadelphia, PA, USA, from April 26 to May 3 2014.

29 Apr 2014

Researchers examine link between alcoholism and loss of muscle strength

Muscle weakness is a common symptom of both long-time alcoholics and patients with mitochondrial disease. Now researchers have found a common link: mitochondria that are unable to self-repair.

22 Apr 2014

Synageva announces publication of LAL Deficiency review in Atherosclerosis

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare diseases, today announced the publication of an overview of lysosomal acid lipase deficiency (LAL Deficiency) in the online version and an upcoming print edition of Atherosclerosis, the official journal of the European Atherosclerosis Society.

21 Apr 2014

Researchers identify two new genes associated with intellectual disability

Researchers at the Centre for Addiction and Mental Health have discovered two new genes linked to intellectual disability, according to two research studies published concurrently this month in the journals Human Genetics and Human Molecular Genetics.

1 Apr 2014

Genable Technologies, Spark Therapeutics to advance novel therapy for rare form of retinitis pigmentosa

Spark Therapeutics and Genable Technologies announced today that they have entered into a collaboration agreement for Genable's lead therapeutic to treat rhodopsin-linked autosomal dominant retinitis pigmentosa (RHO adRP), GT038.

25 Mar 2014

Otsuka obtains regulatory approval in Japan for pharmacological treatment of ADPKD

Otsuka Pharmaceutical Co., Ltd. today announced it has become the first company in the world to obtain regulatory approval for a pharmacological treatment of autosomal dominant polycystic kidney disease (ADPKD). Samsca (generic name: tolvaptan) has been approved in Japan in 7.5-mg and 15-mg tablet forms for extended use for the additional indication of ADPKD. Also, the new dosage form of 30-mg Samsca tablets has received approval for the indication of ADPKD.

24 Mar 2014

Trophos' olesoxime shows beneficial effect on maintaining motor function in SMA patients

Trophos today announces that top-line results from a pivotal clinical trial of its lead product candidate olesoxime in spinal muscular atrophy (SMA) show a beneficial effect on the maintenance of motor function in SMA patients. If approved, olesoxime could be the first treatment specifically developed for SMA patients.

10 Mar 2014

Inherited Alzheimer's neuronal damage begins 10 to 20 years before symptoms appear

In a paper published in the prestigious journal Science Translational Medicine, Professor Colin Masters from the Florey Institute of Neuroscience and Mental Health and University of Melbourne - and colleagues in the UK and US - have found rapid neuronal damage begins 10 to 20 years before symptoms appear.

10 Mar 2014

New DNA Quantification kits may help scientists to quickly assess highly compromised human DNA

Forensic scientists can now more quickly assess the quantity and quality of human DNA in highly compromised and degraded casework samples and provide the critical information needed to drive informed decisions on subsequent steps in the analysis process, thanks to two new Life Technologies quantification solutions announced today by Thermo Fisher Scientific.

21 Feb 2014

Support for progranulin role in bipolar disorder

Researchers have found reduced levels of plasma progranulin in patients with bipolar disorder, strengthening evidence for its possible role as a biomarker for the condition.

20 Feb 2014

NPS Pharmaceuticals reports net global product sales of $15.3 million for Q4 2013

NPS Pharmaceuticals, Inc., a global biopharmaceutical company pioneering and delivering therapies that transform the lives of patients with rare diseases worldwide, today reported financial results for 2013 and its financial outlook for 2014.

18 Feb 2014

UC San Diego researchers uncover causes for hereditary spastic paraplegia

In a study published in the January 31, 2014 issue of Science, an international team led by scientists at the University of California, San Diego School of Medicine report doubling the number of known causes for the neurodegenerative disorder known as hereditary spastic paraplegia. HSP is characterized by progressive stiffness and contraction of the lower limbs and is associated with epilepsy, cognitive impairment, blindness and other neurological features.

31 Jan 2014

Novel HER2 mutation identified in familial lung adenocarcinomas

Researchers have identified a novel germline mutation in the transmembrane domain of the human epidermal growth factor receptor 2 gene in familial lung adenocarcinomas.

24 Jan 2014

OxThera announces initiation of Oxabact clinical study in Primary Hyperoxaluria

OxThera AB, a Stockholm-based privately-held biopharmaceutical company, today announced that it has initiated a clinical study in Primary Hyperoxaluria. This announcement bolsters the Company's position as a leader in developing therapies for hyperoxaluria, a debilitating condition that, if untreated, leads to kidney damage and end-stage renal disease.

8 Jan 2014

AIT initiates Phase II clinical trial of NOxCureCF for patients with cystic fibrosis

Advanced Inhalation Therapies, an Israeli drug development company, announced today that it has begun enrollment in Israel for a multicenter, open label, Phase II clinical trial of NOxCureCF, a respiratory treatment for patients with cystic fibrosis.

8 Jan 2014

EMA accepts Otsuka's marketing authorisation application for tolvaptan for treatment of ADPKD

Otsuka Pharmaceutical Co., Ltd. announced today that the European Medicines Agency (EMA) has accepted the submission of a marketing authorisation application (MAA) for the potential approval of tolvaptan for the treatment of autosomal dominant polycystic kidney disease (ADPKD).

27 Dec 2013

Alnylam initiates Phase II study with ALN-TTRsc for treatment of ATTR

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has initiated a pilot Phase II study with ALN-TTRsc, a subcutaneously delivered RNAi therapeutic targeting the transthyretin gene in development for the treatment of TTR-mediated amyloidosis.

17 Dec 2013

Late-breaking abstracts on treatment of blood cancers and bleeding disorders presented at ASH meeting

A range of studies highlighting late-breaking research advances in the understanding and treatment of blood cancers and bleeding disorders are being presented today during the 55th American Society of Hematology Annual Meeting and Exposition in New Orleans.

12 Dec 2013