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Study explores why people at risk for Huntington's disease choose not to undergo genetic testing

As many as 90 percent of individuals who have a parent with Huntington's disease (HD) choose not to take a gene test that reveals if they will also develop the fatal disorder -- and a new study details the reasons why.

17 May 2019

Researchers study the impact of and treatment for aggrecan deficiency

On Sunday, April 28, a team of researchers received the 2019 Human Growth Award at the Pediatric Endocrine Society's Annual Meeting for their abstract, entitled "Clinical Characterization and Trial of Growth Hormone in Patients with Aggrecan Deficiency: 6 Month Data," and presented this at the PES Presidential Poster Session.

8 May 2019

Genetic test for low birth weight on the horizon

Researchers have successfully identified 190 genetic factors associated with a low birth weight. They hope that this may one day be used to develop a universal genetic test.

3 May 2019

Scientists discover first gene involved in lower urinary tract obstruction

Even before birth, an obstructed urethra can cause a variety of issues in the unborn child, ranging from mild urinary problems to kidney failure.

2 May 2019

UAB professor honored with the most prestigious prize for research in polycystic kidney disease

Bradley K. Yoder, Ph.D., professor and chair of the Department of Cell, Developmental and Integrative Biology at the University of Alabama at Birmingham, has been awarded with a Lillian Jean Kaplan International Prize for Advancement for his significant research in the polycystic kidney field.

29 Apr 2019

New gene therapy cures babies with fatal 'Bubble Boy' disease

A new gene therapy created by US researchers appears to have cured eight infant boys born with a rare genetic disorder referred to as “Bubble Boy” disease.

18 Apr 2019

Researchers find presence of Aire gene in lymph nodes

The thymus is the organ in which T cells differentiate. T cells express various T cell receptors for reacting with various pathogenic microbes and viruses.

11 Apr 2019

Researchers discover underlying cause of hereditary muscle disease

Researchers at Karolinska Institutet have discovered the underlying cause of a hereditary muscle disease first characterised in a Swedish family in 1980. It proves to be the first identified disease caused by defective myoglobin, the protein that transports oxygen in muscle cells.

27 Mar 2019

Gene therapy restores hearing in mice with congenital genetic deafness

In collaboration with the universities of Miami, Columbia and San Francisco, scientists from the Institut Pasteur, Inserm, CNRS, Collège de France, Sorbonne University and the University of Clermont Auvergne have managed to restore hearing in an adult mouse model of DFNB9 deafness - a hearing disorder that represents one of the most frequent cases of congenital genetic deafness.

19 Feb 2019

Researchers uncover first spontaneous animal model of human hypophosphatasia

A research group led by Professor Hannes Lohi at the University of Helsinki and Folkhälsan Research Center has uncovered a new skeletal disease in dogs.

30 Jan 2019

Scientists aim to find genetic causes of developmental abnormalities in the vagina and uterus

A percentage of females are born with a missing or underdeveloped vagina and uterus, and scientists are working to analyze the genes of hundreds of them to get a better idea about causes, improve genetic counseling and ideally treatment.

22 Jan 2019

Research team identifies Ashkenazi Jewish founder mutation for Leigh syndrome

Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy.

15 Nov 2018

Geneticists decipher new gene responsible for rare form of hair loss

Hypotrichosis simplex leads to progressive hair loss already in childhood. A team of researchers led by human geneticists at the University Hospital of Bonn has now deciphered a new gene that is responsible for this rare form of hair loss.

6 Nov 2018

New form of therapy may stop or reverse progressive vision loss

A new form of therapy may halt or even reverse a form of progressive vision loss that, until now, has inevitably led to blindness.

1 Nov 2018

CNIO researchers link MASTL protein to origin of thrombocytopenia

The Cell Division and Cancer Group of the Spanish National Cancer Research Centre has discovered that MASTL, the protein whose function in the organism has not yet been sufficiently investigated, plays an important role in controlling the cytoskeleton, the structure that gives shape to the cells, and enables their mobility and capacity for grouping.

1 Nov 2018

Newly discovered compound shows potential for treating Parkinson's disease

A joint research group centered around Professor Hideyuki Okano and Associate Professor Jun Kohyama, Department of Physiology of the Keio University School of Medicine, together with a research group of Eisai Co., Ltd. has identified a compound that has the potential to be a treatment for Parkinson's disease by using dopaminergic neurons differentiated from induced pluripotent stem (iPS) cells from patients with familial Parkinson's disease.

19 Oct 2018

Majority of Americans’ ancestry can be traced through existing DNA databases

According to a latest report over 60 percent of the Americans’ ancestry can be traced through existing DNA databases. This includes even persons who have never submitted their DNA for evaluation say researchers because enough individuals have already submitted their genetic information. The latest study revealing this was published in the journal Science.

11 Oct 2018

New genome editing tool used to heal genetic disease

Parents of newborns may be familiar with the metabolic disorder phenylketonuria: in Switzerland, all newborn babies are screened for this genetic disease.

8 Oct 2018

Alnylam submits CTA application to MHRA to initiate Phase 1/2 study of ALN-AAT02

Alnylam Pharmaceuticals, Inc., the leading RNAi therapeutics company, announced today that it has submitted a Clinical Trial Authorization application to the Medicines and Healthcare products Regulatory Agency to initiate a Phase 1/2 study of ALN-AAT02, an investigational RNAi therapeutic targeting alpha-1 antitrypsin for the treatment of AAT deficiency-associated liver disease.

3 Oct 2018

Physical activity may have beneficial effects for people with rare Alzheimer's disease

For individuals carrying a genetic mutation that causes Alzheimer's disease, engaging in at least 2.5 hours of physical activity per week may have beneficial effects on markers of Alzheimer's disease brain changes and may delay cognitive decline, according to a new study available online by Alzheimer's & Dementia: The Journal of the Alzheimer's Association as an article in press, corrected proof.

25 Sep 2018