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Uncovering clues as to why Progressive Neurogenerative disease - ALS – spontaneously reverses
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11/28/2021
GenieUs Genomics Sydney and Duke University North Carolina have embarked on a pilot study to look at the biologic mechanisms in patients that have spontaneously reversed ALS.

Amyotrophic Lateral Sclerosis (ALS), is a progressive neurodegenerative disease that causes muscle weakness, paralysis, and ultimately, respiratory failure. An ALS reversal is a person who has regained significant or complete motor function having previously been diagnosed with ALS. 

 

The study aims to look at the patient’s motor neurons to potentially uncover new clues as to why these patients have reversed the disease. Illumina will be supporting the study by providing in depth genomic sequencing for the project.

 

The study will be run by Professor Rick Bedlack who has been following this group of patients in the hope of uncovering a mechanism that can then be targeted as a therapeutic or diagnostic target.

 

There are 54 patients across the world that have spontaneously reversed ALS.

Their ALS diagnosis, progression and recovery have all been independently confirmed by Dr. Bedlack and his team at Duke. Some of these patients were unable to speak, swallow, breath or walk independently and now have regained those lost functions

 

No one knows why this occurs but there are three prevailing schools of thought.

 

1.    That their ALS has been misdiagnosed and they instead had some novel, previously undescribed mimic-syndrome

2.    That the treatments they took actually worked

3.    That there is a biological mechanism that is unique that helps flip the disease back under threshold.

 

It is the last theory that GenieUs and Duke University want to investigate in a pilot study. Similar findings have already been made in diseases like Alzheimers. In 2018, Dr Eric Reinman and his team recently uncovered a mutation in an Alzhiemer’s patient that seems to interfere with the ability of two key proteins to bind together—a binding that seems to be crucial for the progression of the deadly neural cascade. Even though this woman had classic amyloid plaques associated with Alzheimer’s she didn’t suffer the traditional Alzheimer’s symptoms. Reiman and his colleagues demonstrated they could replicate this effect in the lab using small molecule drugs that consist of antibodies which interfere with the binding in a similar way

 

It is this kind of process that the teams at Duke University and GenieUs Genomics hope to uncover and translate for ALS.

 

Founded in 2017, GenieUs’ analytics solution is at the forefront of bioanalytical interrogation of  datasets to map and sub-categorise neurodegenerative diseases for more personalised treatment options.  Neurodegenerative diseases are complex and vary between people, so it is important to understand  the unique genetic backgrounds and molecular events that cause the condition and create truly personalised care and treatment for people.

 

Matt Keon, CEO and co-founder of GenieUs, said: “A large component of ALS still remains a mystery. If we can solve bigger pieces of the puzzle, in this case uncover a new mechanism to target then we are a step closer to solving ALS in a very real, tangible way .”

 

Rick Bedlack, Professor, Duke University said: “I am grateful to collaborate with the brilliant GenieUS team to uncover the mechanisms of ALS reversals.  If we can understand why these recoveries happened, we might be able to make them happen more often.”

 

Amanda Cashin, PhD, co-founder & Global Head, Illumina For Startups said:

“We are pleased to award Matt Keon and his team at GenieUs an Illumina for Startups Sequencing Grant to progress their research into finding a therapeutic or diagnostic target for generate proof-of-concept data towards development of a personalised approach to diagnosis and treatment of neurogenerative disease - ALS. GenieUs is the first startup in Australia to be awarded this grant from Illumina to access our sequencing systems, reagents and technical expertise at the recently open Illumina Innovation Collective lab in Melbourne,’

 

-ENDS-

 

About GenieUs

GenieUs is a science and technology company using breakthrough data analytics and machine learning to solve the mystery of neurodegenerative diseases, one of the most misunderstood condition areas on the planet. Founded in 2017, its analytics solution uses cutting-edge algorithms and the deepest integration of datasets to map and sub-categorise neurodegenerative diseases for more personalised treatment.

 

About Neurodegenerative Disease

Neurodegenerative diseases like motor neuron diseases and dementia are one of our fastest-growing health risks. There are 10 million new cases of dementia globally every year, yet research and diagnosis are years behind diseases like cancer.

 

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