Autosomal News and Research

RSS

Mild reduction in food intake slows development of autosomal-dominant polycystic kidney disease

A small reduction in food intake—less than required to cause weight loss—dramatically slowed the development of a common genetic disorder called autosomal-dominant polycystic kidney disease (ADPKD) in mice, a new study in American Journal of Physiology—Renal Physiology reports.

30 Jan 2016

JINARC (tolvaptan) accepted for use in Scotland for ADPKD treatment

From today, people in Scotland with the genetic kidney disease ADPKD could benefit from JINARC® (tolvaptan) following advice issued by the Scottish Medicines Consortium (SMC) for its use in adults with chronic kidney disease (CKD) stages 1-3 at the start of treatment with evidence of rapidly progressing disease.

12 Jan 2016

New gene editing technique could hinder retinal degeneration in rats with inherited blindness

A new technique that has the potential to treat inherited diseases by removing genetic defects has been shown for the first time to hinder retinal degeneration in rats with a type of inherited blindness, according to a Cedars-Sinai study.

11 Jan 2016

Rare variants linked with Parkinson’s disease

Researchers using exome sequencing in families with Parkinson’s disease have identified two genes that could be associated with the condition.

27 Nov 2015

Role of genetic predisposition in pediatric cancer patients

The most detailed analysis yet of the role germline mutations in genes associated with cancer predisposition play in the development of childhood cancer suggests that comprehensive genomic screening may be warranted on all pediatric cancer patients, not just those with a family history of cancer.

19 Nov 2015

UAB study aims to provide improved care related to reproductive health of women with CF

For University of Alabama at Birmingham School of Nursing Assistant Professor Sigrid Ladores, Ph.D., investigating reproductive health concerns in adolescents and young adults with chronic illnesses, particularly those with cystic fibrosis, is not just a profession, it is a passion.

3 Nov 2015

FDA awards research grants to boost product development for patients with rare diseases

The U.S. Food and Drug Administration today announced it has awarded 18 new research grants totaling more than $19 million to boost the development of products for patients with rare diseases, which affect the lives of nearly 30 million Americans.

11 Oct 2015

Cells expressing faulty CFTR channel to TNF-α can 'fix' cystic fibrosis cells

Scientific experiments examining what happens to the faulty channel protein that causes cystic fibrosis during inflammation have yielded unexpected and exciting results. The study, conducted by Sara Bitam and her colleagues at INSERM in France, has just passed peer review on open science publishing platform F1000Research.

3 Sep 2015

Study of genetic risk factors of IBD in African-Americans published in Gastroenterology journal

Researchers at the Johns Hopkins University School of Medicine, along with colleagues at Emory University and Cedars-Sinai, have published in the journal Gastroenterology the first major, in-depth analysis of genetic risk factors of inflammatory bowel disease in African-Americans.

26 Aug 2015

Shire acquires Foresight Biotherapeutics for $300 million

Shire plc announced today that it has acquired New York-based, privately held Foresight Biotherapeutics Inc. for $300 million.

3 Aug 2015

3SBio purchases entire equity interest in Zhejiang Wansheng

3SBio Inc., a leading China-based biotechnology company focused on researching, developing, manufacturing and marketing biopharmaceutical products, today announced that it has acquired the entire equity interest in Zhejiang Wansheng Pharmaceutical Co., Ltd a limited liability company incorporated in the PRC for an aggregate consideration of RMB 528 million.

24 Jul 2015

Study discovers potential link between inherited genome-wide DNA sequences and CAD

A study to examine recessively inherited genome-wide DNA sequences has for the first time discovered a potential link with Britain's biggest killer - Coronary Artery Disease (CAD).

10 Jul 2015

More support for amyloidosis as earliest AD biomarker

A longitudinal study of people with autosomal dominant Alzheimer’s disease shows that β-amyloid deposition begins well before neurodegeneration and cognitive decline.

2 Jul 2015

Scientific collaboration pinpoints genetic cause of rare form of blindness in newborn babies

A scientific collaboration, involving the Manchester Centre for Genomic Medicine at Saint Mary's Hospital, UK, and the Telethon Institute of Genetics and Medicine in Naples, Italy, has pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye in newborn babies.

24 Jun 2015

Non-invasive prenatal testing for Down's syndrome acceptable to parents

Non-invasive prenatal testing (NIPT) for Down's syndrome is feasible, acceptable to parents, and could be introduced into the National Health Service, UK researchers say. The results of a National Institute for Health Research study carried out by the first NHS laboratory to provide NIPT testing will be reported to the annual conference of the European Society of Human Genetics today (Saturday).

8 Jun 2015

Alnylam files clinical trial application for alpha-1 liver disease, presents data at DDW

Alnylam Pharmaceuticals, Inc. has announced that it has filed a Clinical Trial Application (CTA) with the U.K. Medicines and Healthcare products Regulatory Agency (MHRA) to initiate a Phase 1/2 clinical trial with ALN-AAT, a subcutaneously administered investigational RNAi therapeutic targeting alpha-1 antitrypsin (AAT) for the treatment of AAT deficiency-associated liver disease (alpha-1 liver disease).

19 May 2015

UC Davis researchers settle long-standing controversy surrounding Canavan disease

UC Davis investigators have settled a long-standing controversy surrounding the molecular basis of an inherited disorder that historically affected Ashkenazi Jews from Eastern Europe but now also arises in other populations of Semitic descent, particularly families from Saudi Arabia.

28 Apr 2015

Managing autosomal dominant polycystic kidney disease: an interview with Dr Richard Sandford, University of Cambridge

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited kidney diseases. It's also one of the most common reasons that people require dialysis or transplantation...

13 Apr 2015

EMA's CHMP backs JINARC (tolvaptan) for autosomal dominant polycystic kidney disease

Otsuka Pharmaceutical Co., Ltd. announced today that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency has recommended JINARC (tolvaptan) for approval.

3 Mar 2015

23andMe granted FDA approval to market direct-to-consumer genetic test under novel device classification

23andMe, Inc., the leading personal genetics company, today announced that it has been granted authority by the U.S. Food and Drug Administration (FDA) to market the first direct-to-consumer genetic test under a regulatory classification for novel devices.

20 Feb 2015