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Giving polycystic kidney disease the bump

We launched this campaign at the beginning of October 2016. It's the first time that we've ever had a campaign of this size and scope. It's a European campaign in multiple languages that's coordinated by six of the organizations that represent PKD patients in Europe.

5 Jan 2017

Inherited CD70 deficiency increases susceptibility to Epstein-Barr virus and EBV-related cancer

Investigators at the National Institutes of Health and international colleagues have identified a genetic immune disorder characterized by increased susceptibility and poor immune control of Epstein-Barr virus (EBV) and, in some cases, an EBV-associated cancer called Hodgkin's lymphoma.

23 Dec 2016

Landmark clinical trial to test third investigational drug for Alzheimer's disease

An international team led by Washington University School of Medicine in St. Louis has selected a third investigational drug to be tested in a worldwide clinical trial - already underway - aimed at finding treatments to prevent Alzheimer's disease.

20 Dec 2016

New method to generate kidney organoids from patient cells can help study human kidney diseases

A new method to create kidney organoids from patient cells may provide insights into how kidney diseases arise and how they should be treated.

18 Nov 2016

Fruit flies can be powerful model for unraveling cellular, molecular bases of damaging cold perception

The tiny fruit fly can help humans investigate the genetic and neural bases of detecting painful or harmful cold stimuli and offer intriguing, potential implications for human health, according to a new study.

10 Nov 2016

Scientists use latest sequencing technology to review genetic makeup of ataxias syndrome

According to a recent study published in JAMA Neurology, Northwestern Medicine scientists have examined more than a century of data of the genetic makeup of ataxias, a neurodegenerative disorder, to better understand the different forms of this devastating disease and how it affects patients.

8 Nov 2016

Japanese researchers discover causative gene for common type of hearing loss

A causative gene for a highly common type of hearing loss (sensorineural hearing loss, or SNHL) has been identified by a group of Japanese researchers, who successfully replicated the condition using a transgenic mouse.

6 Oct 2016

Leading kidney charities launch social media campaign to raise awareness of polycystic kidney disease

Polycystic Kidney Disease International has joined forces with six European kidney charities to launch a social media campaign called Give PKD the Bump.

4 Oct 2016

IU receives $1.9 million grant to investigate effects of congenital birth defects and age on the eye

A $1.9 million grant to Indiana University from the National Institutes of Health's National Eye Institute will advance basic research on the eye with applications to blindness caused by genetic disorders and aging.

20 Sep 2016

Research offers new insights into underlying mechanisms of deadly cystic fibrosis

A minor hiccup in the sequence of a human gene can have devastating impacts on health. Such flaws cause cystic fibrosis (CF), a disease affecting the lungs and other vital organs, often leading to death by the age of 30.

9 Sep 2016

Overcoming gene silencing barriers to target neurological conditions: an interview with Dr Errol de Souza

Many gene mutations that cause neurological disorders have been identified. For example, in a rare neurological disorder such as Huntington’s disease, an autosomal dominant mutation through expansion of CAG (cytosine-adenine-guanine) triplet repeats in the gene coding for the Huntingtin protein results in abnormal protein production.

1 Aug 2016

Adding DNA sequencing to newborn screenings may increase early diagnosis of cystic fibrosis

A study by researchers at Children's Hospital Los Angeles, Brigham and Women's Hospital and the California Department of Public Health suggests that all babies with a known mutation for cystic fibrosis (CF) and second mutation called the 5T allele should receive additional screening in order to better predict the risk of developing CF later in life.

26 Jul 2016

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