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The effects of Huntington’s disease can be seen as early as conception, finds new study

In a breakthrough study, scientists at the Rockefeller University have observed the effects of Huntington’s disease in neurons as early as conception.

30 Jan 2018

Gene editing shows promise to help people at risk of hearing loss

Gene editing could someday help people at risk of hearing loss from genetic mutations, according to research by a new Rice University faculty member.

20 Dec 2017

Early intervention may be crucial to successful treatment of Friedreich's ataxia

New research published today in Disease Models & Mechanisms indicates that early intervention should be a key target in the development of new therapeutics for Friedreich's ataxia, as current treatments may be administered too late to target the disease effectively.

8 Nov 2017

Scientists get one step closer to reversing retinal degenerative diseases

Degenerative disorders affecting the retinal pigment epithelium (RPE), such as age-related macular degeneration and autosomal recessive bestrophinopathy, can ultimately lead to blindness. Some of these life-changing disorders are the result of mutations in a single gene, called BEST1.

25 Oct 2017

Cancer drug may inhibit growth of cysts in patients with inherited form of kidney disease

A cancer drug called bosutinib may inhibit the growth of cysts in patients with autosomal dominant polycystic kidney disease (ADPKD), according to a study appearing in an upcoming issue of the Journal of the American Society of Nephrology.

24 Aug 2017

Researchers uncover how mutations in single gene lead to rare kidney and liver disease

In a joint international study, researchers from Osaka University have partnered with research groups from the United States and Spain to uncover how mutations in a single gene called PKHD1 lead to symptoms associated with a rare kidney and liver disease, ARPKD (autosomal recessive polycystic kidney disease).

24 Aug 2017

New mutation in MUC1 gene could be valuable biomarker for diagnosing kidney disease

Medullary cystic kidney disease type 1 (MCKD1) is a rare genetic kidney disease. Despite this, because it is an autosomal dominant disease, once the mutation is in a family, many family members are affected. Current diagnostic methods discover the disease late in its development.

14 Jun 2017

Genetic screening and counseling likely to benefit childhood cancer survivors, study suggests

Twelve percent of childhood cancer survivors carry germline mutations that put them or their children at increased risk of developing cancer, according to a landmark study presented today at the annual meeting of the American Association for Cancer Research.

4 Apr 2017

Rarely studied faulty USF3 gene may predispose individuals to thyroid cancer

Charis Eng, M.D., Ph.D., of Cleveland Clinic and her team have discovered that a faulty, rarely studied gene called USF3 may predispose individuals to thyroid cancer. They recently published this discovery in Human Molecular Genetics.

29 Mar 2017

Scientists identify genetic signature of risk for type 2 diabetes

Why do some people get Type 2 diabetes, while others who live the same lifestyle never do? For decades, scientists have tried to solve this mystery - and have found more than 80 tiny DNA differences that seem to raise the risk of the disease in some people, or protect others from the damagingly high levels of blood sugar that are its hallmark.

14 Feb 2017

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

Autosomal News and Research

The effects of Huntington’s disease can be seen as early as conception, finds new study

Gene editing shows promise to help people at risk of hearing loss

Early intervention may be crucial to successful treatment of Friedreich's ataxia

Scientists get one step closer to reversing retinal degenerative diseases

Cancer drug may inhibit growth of cysts in patients with inherited form of kidney disease

Researchers uncover how mutations in single gene lead to rare kidney and liver disease

New mutation in MUC1 gene could be valuable biomarker for diagnosing kidney disease

Genetic screening and counseling likely to benefit childhood cancer survivors, study suggests

Rarely studied faulty USF3 gene may predispose individuals to thyroid cancer

Scientists identify genetic signature of risk for type 2 diabetes

Giving polycystic kidney disease the bump

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

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

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

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

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

Japanese researchers discover causative gene for common type of hearing loss

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

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

Research offers new insights into underlying mechanisms of deadly cystic fibrosis

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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