Expert Discusses RNA’s Role In Diagnosing Rare Diseases

An individual’s genetic makeup, or genome, can reveal personal and important details of his / her biology. Now, scientists are showing that RNA, the lesser-known molecular cousin of DNA, is powerful in its right and can offer insights into rare human diseases that DNA cannot. Stephen Montgomery, Ph.D., associate professor of pathology and of genetics at the institution of Medicine, is one of the scientists harnessing RNA to identify the reason for rare diseases that have eluded mainstream medicine. In a report published June 3 in Nature Medicine, Montgomery, and his colleagues explain how RNA sequencing, or transcriptomics, helps pin down the hereditary roots of rare diseases.

Science article writer Hanae Armitage spoke with Montgomery about his work in transcriptomics, its role in disease medical diagnosis and some rare diseases he and his team were able to identify using insights from RNA. 1. What is transcriptomics? Montgomery: We’re probably all aware that DNA makes up all of our genes. But also for these genes with a result actually, their genetic code is utilized to make molecules that are useful in the physical body, like proteins. In this process, there’s an intermediate step where the DNA of a gene is expressed, and it gets changed into substances known as messenger RNA.

This mRNA hints us into which genes are active in an individual. Collected all together, the transcriptome is created by these mRNA substances. It we can study the activity of all the genes in a particular cell, or in a particular biological state. We can, for example, use a sample of a person’s blood to determine which genes are active at any moment, like when he or she is experiencing a strange medical sign. But unlike DNA, which is more like a static blueprint of a person’s biology, mRNA is dynamic.

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Depending on what people do-smoke, eat fatty foods, run, whatever-it can transform how genes are indicated, and we may use those appearance patterns to decipher all sorts of different health exposures or risks. 2. How do you use transcriptomics to zero in on the cause of difficult-to-diagnose diseases? Montgomery: At this time with genome sequencing we can identify hiccups in the DNA, such as mutations, which are more known as gene variants broadly. But most of us have a number of these gene variants, and not all are bad; some haven’t any effect.

With transcriptome sequencing, we’re in a position to see if those genes, variants and everything, are working normally. Sometimes a gene that appears fine on the level of its DNA is actually malfunctioning, producing much or too little protein too, for example. And we can detect this from the transcriptome. 3. Can you give me a good example of an incident where transcriptomics helped identify the reason for a rare disease? Montgomery: We had a female who was experiencing issues with normal development. After developing until she was 18 months normally, she began having troubles with mind talk and control; at 21 months, she started to develop tremors; and at 22 months, seizures.

So we did DNA sequencing and we found about 110 different genes that might have been leading to the problem. But by adding information from her transcriptome, we were ultimately in a position to home in on one specific gene because we saw a specific abnormality in the mRNA. The abnormality we found was shown knowledge from the literature about aberrant mRNA patterns that can result in symptoms much like hers.

So using the transcriptome allowed us to thin down an extremely large number of candidate genes to one, which offered us some real traction force with this full case. Our hope is that in the foreseeable future, we’ll be able to use this information in developing new approaches for gene therapy as that field is constantly on the advance. 4. How do uncommon disease diagnoses benefit from transcriptome data often? Montgomery: With genome sequencing, we will get promising gene applicants for people who come in with an undiagnosed rare diseases 30% to 50% of the time.

After that, there is a diagnostic maze of different things that a person may need to undergo to determine what’s happening. There could be an environmental factor at play that’s impacting their illness. Or there are multiple genes involved in their disease perhaps. These individuals are faced with finding the next step of disease interpretation. 5. Just how does this strategy sometimes appear by you appropriate into health care?

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