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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

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

Autosomal News and Research

Adult SMA patients treated with Nusinersen show improvement in motor function

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

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

Researchers discover cause of new inherited form of pancreatitis

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

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

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

Promising new drug being developed for polycystic kidney disease

New therapy may kill cancer cells in inherited breast cancer

Polycystic kidney disease may be preventable

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

Internet may help diagnose people with rare disorders

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

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

Gene modulation goes wireless hacking the "boss gene"

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

Scientists develop new class of drugs to treat hereditary kidney disease

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

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

Researchers one step closer to unmasking the cause of familial MS

E-Cigarettes and Ethanol: A forensic Perspective on Vaping

Understanding Consumer-Consented Data to Optimize Digital Health Programs

The Future is Wearable: Advancing Human Health Through Portable Spectroscopy

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