Autosomal News and Research

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Drug offers hope for patients with primary hyperoxaluria type 1

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder that begins in childhood and adolescence.

8 Jun 2020

Research provides new evidence for potential blood-based biomarker for Alzheimer's

A potential blood-based biomarker for Alzheimer's and other neurodegenerative diseases seems even more promising thanks to new research from a Massachusetts General Hospital-led study.

27 May 2020

Study of rare genetic disorder that causes severe eyesight problems

Nagano prefecture is home to a group of people effected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies. This disease impacts the gene encoding protein transthyretin which is produced in the liver and also eyes.

3 Apr 2020

Study offers new insight into genetic alterations associated with osteosarcoma

A study by researchers at the National Cancer Institute, part of the National Institutes of Health, offers new insight into genetic alterations associated with osteosarcoma, the most common cancerous bone tumor of children and adolescents.

19 Mar 2020

DNA topological problems may cause lymphoma, study shows

Researchers from the Spanish National Cancer Research Centre, Madrid, and the Andalusian Molecular Biology and Regenerative Medicine Centre, Seville, published today a paper in Nature Communications that shows that DNA topological problems may cause endogenous DNA breaks that have a causal relationship with cancer.

24 Feb 2020

Clinical trial of two investigational drugs for rare, inherited Alzheimer's yields disappointing results

An international clinical trial evaluating whether two investigational drugs can slow memory loss and cognitive decline in people in the early stages of a rare, inherited form of Alzheimer's disease has yielded disappointing results, an initial analysis of the data has shown.

10 Feb 2020

New genetic screen for Huntington’s disease

Huntington’s disease is a genetic disease that is debilitating and progressive leading to severe brain damage and eventual death. In patients with this autosomal dominant disease, there is presence of a protein called the Huntingtin protein that forms clumps within the brain leading to the symptoms of the disease.

30 Jan 2020

Children's National receives new funding to strengthen global polycystic kidney disease initiative

Lisa M. Guay-Woodford, M.D., McGehee Joyce Professor of Pediatrics at Children's National Hospital, has received a $5.7 million dollar gift to support clinical and research activities.

13 Nov 2019

Adult SMA patients treated with Nusinersen show improvement in motor function

A study published in the Journal of Neuromuscular Diseases presents the first evidence of mild improvement or stabilization of motor and respiratory function in adults with spinal muscular atrophy type 3 (SMA3) treated with Nusinersen, which was the case even in patients who have had the disease for 20 years or more.

11 Nov 2019

Inhibiting mutant CHIP protein activity could decrease severity of ataxia disease symptoms

For the first time, the UNC School of Medicine lab of Jonathan Schisler, MS, PhD, linked the specific biochemical changes to a protein called CHIP to specific disease characteristics of patients with a wide range of rare disorders.

6 Nov 2019

Newly identified gene variant may offer potential treatment for Alzheimer's disease

Defying the odds, an individual at high risk for early-onset Alzheimer's disease remained dementia-free for many years beyond what was anticipated.

4 Nov 2019

Researchers discover cause of new inherited form of pancreatitis

What began as a 51-year-old mystery comes down to a single gene, as researchers from the University of Chicago and University of California, San Francisco discovered the cause of a new inherited form of pancreatitis.

29 Oct 2019

Q-Suite Motor Assessment Tool helps detect subtle motor abnormalities in children

In clinical trials of adults with Huntington's disease (HD) the Q-Suite Motor Assessment Tool (Q-Motor) has proven to be helpful to detect and quantitate subtle motor abnormalities.

22 Oct 2019

Research reveals new mechanism which could lead to premature aging in mother cells

Researchers from the University of Seville and the Andalusian Center of Molecular Biology and Regenerative Medicine, have discovered a new mechanism that makes it possible to understand premature aging in cells with asymmetrical cell division, as is the case with mother cells.

30 Sep 2019

CFSRE and Verogen join forces to accelerate implementation of new forensic NGS technology

The Center for Forensic Science Research & Education (CFSRE) and Verogen have entered into a collaborative agreement to establish CFSRE as a leader in the field of forensic Next Generation Sequencing (NGS), also known as Massively Parallel DNA Sequencing (MPS).

From Verogen, Inc. 13 Sep 2019

Promising new drug being developed for polycystic kidney disease

Researchers have developed a potential new drug for the treatment of Polycystic kidney disease (PKD) – a deadly genetic condition affecting the kidneys that leads to formation of swellings or cysts within the kidney that cause it to fail.

12 Sep 2019

New therapy may kill cancer cells in inherited breast cancer

Breast cancer begins when the cells in the breast begin to grow out of control. The cells form a tumor, which can become malignant if they invade and spread to surrounding tissues. Like any other cancers, breast cancer has many risk factors that can’t be changed, like family history.

28 Aug 2019