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"Australian" genetic mutation provides clues to Alzheimer’s mechanism

In an astonishing new breakthrough in Alzheimer’s research, the molecular basis of early-onset Alzheimer’s disease (AD) and age-linked AD has been identified by looking at one type of genetic mutation.

26 Aug 2019

Internet may help diagnose people with rare disorders

A team of researchers at the Wake Forest Baptist Medical Center found that information found on the internet can serve as good means to diagnose individuals who suspect they have a rare disorder that has not been identified by their doctors.

8 Aug 2019

Study investigates whether patients with ADPKD should be screened for brain aneurysms

Autosomal dominant polycystic kidney disease is characterized by progressive development of kidney cysts, as well as abnormalities outside the kidneys, including brain aneurysms or weaknesses in blood vessels in the brain that balloon and fill with blood and may later rupture.

31 Jul 2019

Altered protein and mutated clusters of genes in Alzheimer’s disease

Alzheimer's disease (AD) diagnosis and treatment has been a challenge and this is mainly due to the varying degrees of degeneration and cognitive damage seen in different patients. The researchers from the University of California San Diego School of Medicine for the first time used the transcriptome to assess the proteins made from the genes in patients with AD, that could help in diagnosis.

23 Jul 2019

Gene modulation goes wireless hacking the "boss gene"

Researchers from the University at Buffalo have successfully used technology to wirelessly tweak the functioning of a gene FGFR1. This gene is vital in the growth of embryos into adults. Their experiments were successful in the lab grown brain tissues and shows potential in therapeutics.

16 Jul 2019

Scientists identify early signs of Parkinson’s disease years before symptoms develop

Scientists have identified the earliest signs of Parkinson’s disease in the brain up to 20 years before patients present with any symptoms.

20 Jun 2019

Scientists develop new class of drugs to treat hereditary kidney disease

Scientists from the University of Sheffield are part of an international collaboration to develop a new class of drugs to treat a common genetic kidney disease which is a major cause of kidney failure.

18 Jun 2019

Study uncovers potential modifier genes in patients with Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is the most common inherited neurological disorder affecting peripheral motor and/or sensory nerves in humans.

18 Jun 2019

Disease-modifying therapy for Alport syndrome still remains an unmet need

Alport syndrome is a hereditary type IV collagen disease that leads to progressive proteinuria, renal fibrosis, and kidney failure.

13 Jun 2019

Researchers one step closer to unmasking the cause of familial MS

A new study has uncovered mutations in 12 genes that may be responsible for the familial type of multiple sclerosis (MS).

7 Jun 2019

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