Rett Syndrome Awareness: HPC and Cloud Technologies Giving Hope to the Silent Angels and those with Rare Diseases

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In October, we paid tribute to Breast Cancer Awareness and with it, the brave souls that battle breast cancer, a disease that receives a huge amount of media attention. It is small wonder because in 2017, it’s estimated that about 30 percent of newly diagnosed cancers in women will be breast cancers. There is even talk of a cure on the horizon because the most common forms of cancer would naturally tend to get the most research and funding and attention. But what if you or someone you love don’t have something so common? What if you or someone you love is stricken with that one in a million disease? Now, imagine that that disease is actually a disorder that rolls autism, Parkinson’s disease, cerebral palsy, anxiety disorders and epilepsy, all into one. That’s Rett syndrome. Rett syndrome is a postnatal neurologic disorder that occurs almost exclusively in females and becomes apparent in babies after 6-18 months of early normal development. This rare condition leads to lifelong disabilities. More than half of those afflicted will lose their ability to walk and use hands meaningfully. Most girls impacted with this neurological disorder are non-verbal but are cognitively smart to understand spoken language. Yet, their inability to communicate is misconstrued as their cognitive incompetence. Although these Rett angels like social interaction, they often experience isolation due to lack of speech, which leads to frustration.

In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Rare diseases have also become known as orphan diseases because drug companies are usually not interested in developing treatments. There may be as many as 7,000 rare diseases. The total number of Americans living with a rare disease is estimated at between 25-30 million. This estimate has been used by the rare disease community for several decades to highlight that while individual diseases may be rare, the total number of people with a rare disease is large. As concerning, in the United States, only a few types of rare diseases are tracked when a person is diagnosed. These include certain infectious diseases, birth defects, and cancers.

Aside from being Breast Cancer Awareness month, October was also the month designated Rett Syndrome Awareness Month. Rett syndrome only occurs once in 10,000 females which begs the question, what kind of support for research and a cure can those with rare diseases expect? Dr. Mary Jones of Katie’s Clinic at UCSF Benioff Children’s Hospital in Oakland, California is dedicated to helping individuals with Rett syndrome by providing health care and making recommendations for therapies. She says, “We have learned much about the disorder since it was first described in 1982. The gene was discovered in 1999 making it possible for research to be directed toward a cure. We know that there are over two hundred mutation types and that no two girls are alike.”

Although there is no cure at the present time for Rett syndrome, there is good news! With the amazing discovery of the reversal of Rett Syndrome symptoms in lab models in 2007, we now know that this disorder can be cured. Current research shows that Rett syndrome could be the first reversible genetic brain disorder, and also, unlock the door to treatments and a cure for other neurological disorders, such as autism and schizophrenia. But more needs to be done. Research requires the computational firepower of high performance computing, and more and more, including cloud-based solutions that can allow researchers from remote parts of the globe to share information and findings. Dr. Jones said, “Scientists worldwide are searching for a safe way to find a cure for Rett Syndrome girls. Studies in three Rett Syndrome Research Centers in Italy, Australia and the USA have proven that mice with the Rett mutation have benefitted from environmental enrichment, showing improvement in motivation to try new tasks, motor coordination and balance.” Numerous clinical trials are underway to develop treatments that will allow girls with Rett Syndrome to be more functional and Gene Therapy along with therapies holds the promise of a full-on cure.

That’s where Mellanox high performance computing and cloud solutions come in. With the ability to run millions, even billions of complex scenarios, high performance computing can help to narrow down the possibilities and push research forward for even the most elusive disease. Being able to analyze and model an individual human’s genome in a realistic timeframe to guide medical treatment is both a big data and high performance computing challenge. The addition of deep learning and artificial intelligence techniques to facilitate diagnosis and recommend therapies requires even more processing power.

Mellanox prides itself with high speed interconnect products and solutions that enable faster processing of petabytes of data. The selection of a network and its required capabilities is one of the major challenges when building cloud-based Apache Spark big data analytics cluster computing framework, as workloads vary significantly. The goal is to buy enough network capacity so that all nodes in the cloud cluster can communicate with each other in a non-blocking manner. Mellanox’s end-to-end Spark and Hadoop networking solutions deliver the necessary performance to eliminate any data movement and processing bottlenecks. Whether Ethernet or InfiniBand, Mellanox switches, cables, and adapter cards provide enough bandwidth to sustain today’s advanced flash storage array throughput. Using Apache spark cloud big data applications, Rett Syndrome research communities distributed across the globe can collaborate efficiently to share the genome database, identify common mutation patterns and propose gene therapy ideas and therapies to cure Rett Syndrome. Indeed, technology can prove to be a blessing in improving the quality of life of the silent Rett Syndrome angels.

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About Ash Bhalgat

Ash is Senior Director of Cloud Marketing at Mellanox. He leads market strategy, product/solutions marketing and ecosystem engagements for cloud service provider and telco cloud markets. Ash is an accomplished hi-tech industry leader focused on the intersection of technology, products/solutions and markets. He has deep experience in building and marketing high impact, fast revenue growth products/solutions at large, mid-size and startups including companies such as Cisco, Mellanox, Polycom, Luxoft and Hapoose. His professional experience spans across diverse technology domains including Cloud Services, Software Defined Networking, Server and Network Virtualization, Routing, Switching, Wi-Fi, Unified Communication and Collaboration, Network Management, Mobile Apps and End User Devices. Ash graduated summa cum laude with a B.E. is Electrical Engineering from University of Pune (India), M.S. in Computer Engineering from University of Cincinnati and M.B.A. from Santa Clara University. Connect with Ash on LinkedIn or Twitter.

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