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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

Scientists publish study results of AAV therapy product for treatment of RHO-adRP

Ophthotech Corporation announced today that scientists at the University of Pennsylvania and University of Florida published proof-of-concept study results on an adeno-associated virus gene therapy product candidate for the treatment of rhodopsin-mediated autosomal dominant retinitis pigmentosa licensed by Ophthotech.

22 Aug 2018

Scientists report novel gene therapy that halts vision loss in canine model of blinding disease

Scientists funded by the National Eye Institute report a novel gene therapy that halts vision loss in a canine model of a blinding condition called autosomal dominant retinitis pigmentosa (adRP). The strategy could one day be used to slow or prevent vision loss in people with the disease. NEI is part of the National Institutes of Health.

21 Aug 2018

Otsuka’s JINARC approved for treatment of patients with CKD stage 4 ADPKD

Otsuka Pharmaceutical Europe Ltd. today announced that the European Commission has approved an extension of indication for JINARC to include adult patients with CKD stage 4 Autosomal Dominant Polycystic Kidney Disease

2 Aug 2018

Research reveals long-term efficacy of drug used to treat common cause of kidney failure

New research provides support for the long-term efficacy of a drug used to treat in patients with autosomal dominant polycystic kidney disease, a common cause of kidney failure.

19 Jul 2018

Mapping the Genes Responsible for Pluripotency

Dr. Atilgan Yilmaz and his team have developed a method by which they can produce haploid human embryonic stem cells from oocytes. They combined this technique with CRISPR-Cas9 to generate an atlas of the genome, containing the functions of over 18,000 genes.

23 May 2018