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Parallel Diseases Exist, Cincinnati Children's Developing Screening Tools for Life-Changing Treatment of Conditions

Jessica N. Abraham

How the massively parallel reporting assay (MPRA) method works, according to recently published research.

Believe it or not, some diseases run parallel with others. This is why one person with dermatitis, might find relief one way, while the condition worsens for another. Some people have Asthma due to allergies, while others may have problems with digestion. Likewise, extremely rare skin conditions, such as Atypical Dermatitis (not Atopical, such as with Eczema), may present themselves as unrelated in people who already have Asthma, Iron-Deficient Anemia, Clinical Depression, and even Neuropathy. In fact, someone could have them all and not know that they are so strongly related.

Contrary to popular belief, this doesn’t mean a person is “sickly.” Instead, we often look at each condition as a separate disease, when they could all be one arm of the same beast. Someone with the above symptoms, for example, may actually have celiac disease and are just now finding out -- after a life of sitting on the sidelines, looked down upon by their classmates for appearing as “different.”

As research evolves, once rare conditions may add up to early warning sides of more common autoimmune disorders, such as celiac disease and lupus. These symptoms may, together, warn you of a future threat of diabetes, liver failure, or even Alzheimer’s. And, while many of these symptoms may seem unrelated, doctors and scientists are finding stronger evidence to support such claims by studying gut health, nerve triggers, and environmental outliers.

On March 12, Cincinnati Children’s Hospital outlined how a 'massively parallel' gene-screening tool could help hospitals accelerate their research for nearly any disease. What’s being called a “transformative discovery” is being led by experts at Cincinnati Children's, as they took the greatest diver ever attempted into the depths of lupus research. These findings could now give doctors a much-needed boost into the studies of heart disease, diabetes, asthma, and more.

Such a screening tool will allow researchers to evolve much-needed technologies that will bring more long-term hope for the future of medicine. In fact, this tool is a hope all of its own.

According to a recent press statement by the Cincinnati Children's Hospital:

“Ever since the discovery of DNA, scientists have raced to understand which tiny variations, amongst the 3B base pairs within the human genome, are responsible for causing disease. While many are familiar with single-gene diseases, such as cystic fibrosis or sickle cell anemia, science has lacked the computer and people power to sift through a vast and expanding cloud of genetic data to tease out the patterns involved in complex conditions, such as heart disease or asthma.”

Shedding new light on lupus—and potentially many, many more conditions, a 16-member research team led by experts at Cincinnati Children's reports a far-reaching discovery, as part of an ongoing exploration of systemic lupus erythematosus (SLE).

Labs will be able to custom-produce medications to the specific needs of individual patients, while doctors will be able to provide them with individualized meal plans and treatment options that will better allow patients to live a normal-to-quality life!

"This study not only provides several critical new discoveries about lupus, but it also provides a blueprint for dissecting the genetic mechanisms of many complex human diseases," says Leah Kottyan, Ph.D., interim director of the Center for Autoimmune Genomics and Etiology (CAGE) at Cincinnati Children's, who serves as Co-Senior Author for this study along with Matt Weirauch, Ph.D.

Detailed findings were published on March 12, 2021, in Nature Communications.

“Having this level of data available to researchers could open doors for developing highly targeted therapies—and make clinical trial results much more informative,” Kottyan says. “For example, this kind of data could make it easier to approve a drug's use for the people most likely to benefit, while precisely detecting those who should not take the drug at all. ”

The long-term success and development of the massively parallel gene-screening tool are important in finding the exact genetic connections that could potentially cure any disease. In some cases, such as with Atypical Dermatitis that seems to present itself in certain ethnicities who suffer from celiac disease, are often not inherited. In fact, with Atypical Dermatitis (just as an example), while a symptom of an inherited autoimmune disease, only presents itself as hereditary in one-out-of-ten patients.

Directly from the study:

For nearly two decades, scientists have been using genome-wide association studies (GWAS) to uncover large sets of clues about gene variations that might be causing a disease. The process compares entire genomes (3B base pairs) between people with a disease and others without that disease. The results include long lists of single-nucleotide polymorphisms (SNPs) that differ between healthy and unhealthy people—only some of which are relevant to the disease being studied.

GWAS basically converts the proverbial hunt for a needle in a haystack into hunting for the right needle in a large box of interesting needles collected from many haystacks. Hunting through such boxes has produced major discoveries for a growing list of diseases, from Huntington's disease to the BRCA-1 gene that increases breast cancer risk.

But some of the boxes of needles are huge. In conditions such as heart disease, diabetes, or asthma, dozens or even hundreds of gene variations may be involved, all interacting with each other in exceeding complex patterns. In these situations, screening every needle in the box would take years.”

"The sheer scale of the data that can be analyzed is astonishing," states Dr. Kottyan. "For example, in 2019, I published a paper based on one reporter assay experiment. This paper includes the results of over 150,000 reporter assay experiments. Before using this method, it often took at least two years for scientists to understand the molecular mechanisms at work in a single gene loci (or region of the genome) that may contain disease-causing SNPs. This study also took more than two years—but the team was able to analyze all 91 gene loci known to increase lupus risk. Crucially, the same screening process can be used to sift suspected gene association for nearly any complex disease. This is a huge acceleration of discovery. In terms of new treatment, we are using what we learned from this study to identify medications that would affect many lupus risk SNPs. Because each SNP increases risk by a modest amount, targeting many at the same time will likely have a higher value for patients.”

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Jessica N. Abraham is a writer, designer and publicist, specializing in Business, Technology and the Jobs Industry. | | Twitter: @jessicanabraham

Ohio State

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