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Archive - Oct 22, 2020

Mayo Scientists Lead International Effort to Develop Assay for Aggregated Protein in Blood & CSF of Patients with Rare Neurodegenerative Disorder Machado-Joseph Disease; Assay May Be Used in Diagnosis, Prognosis, & Monitoring of Experimental Treatments

Mayo Clinic researchers in Jacksonville, Florida, along with national and global collaborators, have developed a potential test for Machado-Joseph disease (, or spinocerebellar ataxia type 3 (SCA3), an autosomal dominantly inherited genetic disease that has no cure. The researchers have also clarified the role of a gene target associated with the disease. The disease is linked to an inherited mutation in the ataxia 3 gene (ATXN3 gene) that causes a CAG triplet nucleotide repeat expansion in the gene [Editor’s Note: This results in the mutant ATXN3 protein having an abnormal run of the amino acid glutamine (represented in the one-letter code for amino acids as Q) which is coded for by the CAG nucleotide triplet; this run is called “polyQ.”] . The negative results of this mutation, which affects the central nervous system, generally appear between the ages of 40 and 70, and are characterized by an unsteady gait, loss of muscle control, and decline of motor and sensory nerves. Symptoms may resemble those of Parkinson's disease or multiple sclerosis. The research was published online on October 21, 2020 in Science Translational Medicine. The article is titled “Toward Allele-Specific Targeting Therapy and Pharmacodynamic Marker for Spinocerebellar Ataxia Type 3.” In the retrospective study, the researchers set out to find a molecular target to help assess potential treatments for SCA3 and the group of neurodegenerative diseases in which it's categorized. Guiding the researchers in this effort was previous work at Mayo Clinic on Lou Gehrig's disease--also known as amyotrophic lateral sclerosis (ALS)--as well as on frontotemporal dementia with mutations in the C9orf72 gene. SCA3 is defined by the characteristic accumulation of a mutant protein: polyQ ataxin-3.

ASHG 2020 Virtual Annual Meeting to Showcase Innovative Research in Human Genetics (October 27-30)

The American Society of Human Genetics (ASHG) 2020 Virtual Annual Meeting taking place October 27-30 will showcase global advances in human genetics and genomics research that are transforming the scientific landscape and leading to new advances in the treatment of devastating diseases. The ASHG 2020 Virtual Meeting ( will feature more than 200 oral presentations, nearly 2,000 scientific poster presentations, 80+ exhibit booths, networking and professional development opportunities, and more, making it the digital epicenter of human genetics. As always, it will be among the world’s largest events for genetic and genomic discovery, with thousands of scientists, clinicians, advocates, and others participating from more than 50 countries. “As a global showcase of the latest developments in human genetics, the ASHG 2020 Virtual Meeting will provide an online venue for researchers who conduct human genetics and genomics research around the world to exchange scientific knowledge,” said Anthony Wynshaw-Boris, MD, PhD, ASHG President. “I am excited about the fantastic talks, posters, and special sessions, that will be presented at the Virtual Meeting.” The meeting will host chat sessions throughout the program to continue scientific conversations and exchanges around the latest scientific updates and breakthroughs. The Society will also recognize the outstanding scientific achievements of its members in the human genetics and genomics community with special awards and lectures throughout the meeting. Not only will the ASHG 2020 Virtual Meeting host exceptional plenaries, but also concurrent programming sessions covering critical areas of the field.