Understanding genes and their functions requires specialized tools such as genetic mapping, also known as linkage mapping, which can help discover more information about the human genome.
This type of mapping allows researchers to learn whether a disease passed from a parent to their child is linked to one or more of their genes, and their location within the genome.
Genetic maps have been used in cases of cystic fibrosis, as well as to reveal the number of genes that may be involved in diseases such as asthma and diabetes.
How is a genetic map created?
Scientists can isolate DNA using blood or tissue samples, and examine it using both photographs and videos. Thanks to increasingly high-resolution images, researchers have been able to quickly visualize more regions of the genome within cells and create 3D maps.
Prior to this, scientists used a technique developed in the 1980s known as FISH, in which probes were used to mark the presence of DNA sequences, but the downside was that it only allowed a few genes to be visualized simultaneously.
3D technology: the key to going deeper
Researchers from Harvard University, and the National Center for Genome Analysis, developed a new tool which allows the mapping of the genome to be done in a quicker, cheaper, and more efficient way.
This 3D technology, called OligoFISSEQ, allows scientists to visualize hundreds of genes at the same time, and has been used to create three-dimensional maps of 66 target genes. This is especially important for saving researchers time, but also to better preserve the samples being analyzed.
According to Huy Nguyen, a researcher in the genetics department at Harvard Medical School, this technology could provide even more benefits when used with more powerful microscopes, which can provide finer details in shorter times.
“Our most critical challenge is in the analysis. We’re creating highly detailed 3D maps of the genome within individual cells, and the challenge is how to compare the maps from different cells and knowing what to look for. It’s definitely an interesting problem and the future of this field will be very exciting,” Nguyen said in an interview with Tec Review.
The expert predicted that, in the coming years, there will be many advances in the analysis of genome maps, such as knowledge of the structure of chromosomes and genes.
According to the expert, in order to generate a complete map of the genome in three dimensions, more than 6,000 different points must be visualized and separated. The team of Harvard scientists has already requested public funding from the US government to start this project.
According to estimates shared by Harvard in the journal Nature Methods, conducting this type of research would cost approximately 100,000 euros, and would generate so much data that a huge amount of computer storage would be needed.
The cost would be equivalent to mapping the genome of a single human cell, from one specific tissue and a single individual. There are 200 different types of cells in the body, and hundreds of cells would have to be mapped for each type.
Spain uses 3D mapping to investigate diabetes
Researchers at the Centre for Genomic Regulation use 3D maps to locate the genetic mechanisms associated with the development of type 2 diabetes. The aims of this work, coordinated by Dr. Jorge Ferrer, include detecting whether it is possible to calculate the genetic risk of developing the disease, and whether it’s possible to create personalized medications to treat it.
According to the institution, 200 regions of the human genome have been identified in the last decade in which there are genetic variants increasing the risk of suffering from this disease.
“It will be interesting to see how all of these things relate to each other, and what kind of effects they have on cell function and disease,” said Nguyen.
According to estimates from the World Health Organization, there are 422 million people worldwide suffering from type 2 diabetes, and it is one of the leading causes of blindness, kidney failure, and heart attacks.