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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

Polycystic kidney disease may be preventable

Kidney failure is a lifelong burden in hundreds of thousands of people who need to be treated either by dialysis or a kidney transplant. Both procedures significantly increase the cost of healthcare and reduce the quality of life.

26 Aug 2019

"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