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New ESE guidelines provide evidence-based recommendations for handling adrenal incidentalomas

The appropriate clinical response to adrenal incidentaloma should depend on the likelihood of malignancy, according to new guidelines published today by the European Society of Endocrinology, in collaboration with the European Network for the Study of Adrenal Tumours and first presented at ESE's annual European Congress of Endocrinology in May 2016.

12 Jul 2016

MNI scientists move a step forward in efforts to treat hereditary spastic paraplegia

Scientists at the Montreal Neurological Institute and Hospital have identified novel gene mutations that cause hereditary spastic paraplegia (HSP), a step forward in efforts to treat this debilitating disease.

11 May 2016

Expanding gene panel beyond known breast/ovarian cancer genes does not add any clinical benefit

Running large, multi-gene sequencing panels to assess cancer risk is a growing trend in medicine as the price of the technology declines and more precise approaches to cancer care gain steam. The tests are particularly common among breast and ovarian cancer patients. However, questions remain about the growing list of mutations and their suspected, but unproven association with breast and ovarian cancer risk.

6 May 2016

Researchers elucidate mechanisms underlying impaired ciliogenesis in PKD

In an article published online ahead of print on Feb. 19, 2015 in the Journal of Biological Chemistry, investigators at the Medical University of South Carolina and the Ralph H. Johnson VA Medical Center report findings from in vitro and in vivo studies that elucidate the mechanisms underlying the impaired ciliogenesis and abnormal kidney development characteristic of polycystic kidney disease (PKD).

21 Mar 2016

Pioneering progress on ADPKD: an interview with Tess Harris

ADPKD is a chronic, progressive and inherited kidney disease characterized by fluid-filled cysts that develop in the kidneys and other organs. It is the most common inherited kidney disease, and affects millions worldwide.

10 Mar 2016

UCL researchers create first massive open online course on four less-common forms of dementia

Researchers at University College London have created the first massive open online course on four of the less-common forms of dementia. Developed by Timothy Shakespeare, with Sebastian Crutch and Nick Fox, "The Many Faces of Dementia" will kick off on March 14.

22 Feb 2016

Hereditary spastic paraplegia characteristics unveiled

Researchers have detailed the characteristics of a large cohort of patients with hereditary spastic paraplegias.

15 Feb 2016

Astrocytes implicated in preclinical AD

Astrocytes are activated in the brains of people with autosomal dominant Alzheimer’s disease long before symptoms appear and even before amyloidosis begins, a study shows.

12 Feb 2016

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