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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

Scientists recommend testing for Pearson syndrome in patients with congenital anemia

Some babies diagnosed with and treated for a bone marrow failure disorder, called Diamond Blackfan Anemia, may actually be affected by a very rare anemia syndrome that has a different disease course and treatment, say scientists from Dana-Farber/Boston Children's Cancer and Blood Disorders Center.

8 Dec 2013

Multiplicom launches MID kit for Illumina MiSeq and MASTR kits for MODY, ADH and HCM

Multiplicom NV, a specialist in the development, production and commercialization of innovative molecular genetic tests based on massively parallel sequencing, today announces that it is launching a CE/IVD labeled MID kit for Illumina MiSeq together with three new germline mutation detection MASTRTM kits enabling the identification of individuals at risk for maturity onset diabetes of the young, autosomal dominant hypercholesterolemia, and hypertrophic cardiomyopathy.

2 Dec 2013

Gene mutated in rare hereditary disorder also prevents mTORC1 pathway activation

Whitehead Institute scientists report that the gene mutated in the rare hereditary disorder known as Birt-Hogg-Dub- cancer syndrome also prevents activation of mTORC1, a critical nutrient-sensing and growth-regulating cellular pathway.

5 Nov 2013

3Sbio acquires patents for DJ5 to delay hereditary renal disease in ADPKD patients

3SBio Inc., a leading China-based biotechnology company focused on researching, developing, manufacturing and marketing biopharmaceutical products, announced the acquisition of patents for DJ5, a novel non-TZD PPARgamma agonist with potential to retard progressive renal failure in patients with autosomal dominant polycystic kidney disease ("ADPKD').

29 Oct 2013

Research Institute receives Fast Track status for its gene therapy product for treatment of SMA

AveXis and BioLife, synthetic biology platform companies, today announced that The Research Institute at Nationwide Children's Hospital received Fast Track designation from the U.S. Food and Drug Administration for its scAAV9.CB.SMN gene therapy product for the treatment of spinal muscular atrophy (SMA).

19 Oct 2013

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