Case Study: Helping Kids Through Genetic Research

Sally Moody, Lab Director and Department Chair of Anatomy and Cell Biology at George Washington University, is using developmental genetics to understand how the early nervous system forms.

Sally Moody, Lab Director and Department Chair of Anatomy and Cell Biology at George Washington University, is using developmental genetics to understand how the early nervous system forms. At the moment she is investigating new genes that may be linked to a birth defect that causes hearing loss in children. By using biochemical data gathered from Xenopus specimens (a South African frog) Moody can get a sense of how these genes function during early stages of life. 

Moody has spent her entire career investigating the early nervous system and early formation of cranial systems. This research has led her to her current research where she is working to identify new genes in order to understand what they do during early human development. In simple terms, her research aims to understand the genetics behind birth defects in order to help kids affected by them succeed. 

Day to day research, George Washington University

In her day to day lab work, Moody identifies candidate genes and tries to understand the role they play in birth defects related to hearing loss. She clones these genes, and looks at predicted protein domains by doing mutagenesis. Moody injects RNA or DNA into frog embryos to see how the altered genes affect the development of the inner ear. 

Sally MoodySally Moody

Moody’s team is small, made up of two graduate students, two senior scientists and herself. The team uses LabArchives to share all of their lab work with one another. Lab members write up their day to day analyses with data, photographs and other information. They keep a protocols folder so everyone can stay on the same page with the lab’s best practices. Lab meeting notes, outlines for papers, copies of published papers, and safety information are all kept in LabArchives. 

When the lab goes to publish a paper, everyone has access to the data so the group can share their own primary analyses, look at the data, comment on it and begin to outline the paper all within LabArchives. 

NIH Research

Moody has also worked on several projects in an NIH-funded program project grant in which multiple labs share data across labs (and buildings) via LabArchives. Within the three projects comprising this Program Project there were eight PIs. That’s a lot of brain power and research to coordinate. LabArchives served as a single repository for everyone involved with these three highly complex projects. As Moody says, “Two heads (or in this case, lots of brains) are better than one!” LabArchives allows many researchers across multiple labs to harness the power of many brains efficiently and all in one place.

The goal of this program was to better understand why children with DiGeorge Syndrome – also known as 22Q11 Deletion Syndrome – have difficulty suckling and swallowing at birth. The inability of these children to eat properly causes them to grow more slowly and to develop respiratory infections. Using a mouse genetic model with a similar ~40 gene microdeletion, Project 1 found that the electrophysiological characteristics of the motor neurons that control eating are perturbed. Project 2 found that the development of the cranial nerves that are involved in feeding do not develop in the embryo properly and are altered by excessive Vitamin A.  The 3rd project is working to understand whether some of the cranial nerve abnormalities can be alleviated by adjusting the diet of mothers during pregnancy. Pretty important research with a high potential to support children with birth defects and to mitigate the occurrence of these birth defects in the future.

Image of embryoImage of an embryo that Moody and her team used to better understand how birth defects happen.

Working with undergraduates

Moody often works with undergraduate researchers and LabArchives is an easy way for her to make sure that the lab maintains the records of their research even after they move on. It is important to be able to see where all data has originated, where it has travelled over time and who has edited it, she says. This is especially important when multiple people are working on one project. 

Challenges

As Moody says, switching from paper notebooks to a digital lab notebook like LabArchives “is a shift.” One challenge is that the Moody lab doesn’t have computers at their wet bench stations. While some labs use iPads to solve this problem, the Moody Lab hasn’t tried that option yet. At the moment they gather their raw data at the bench and then add it to LabArchives later in the day. Moody says though, that this process actually creates a window of time each day where she and her researchers are forced to sit down, look at their raw data again, transcribe it and really think about what it means. “It really forces me to THINK about what I did at the bench,’ she says and makes it easy to catch mistakes. 

Analyzing

When the lab is ready to analyze the data, they analyze the data blinded to the actual experiment. This way they get to see what the different experimental conditions were and put the data together to see if the prediction was right or totally wrong. You get to see “what actually happens which is often something you hadn’t even considered but is totally unique,” says Moody.  “When the actual experiment is revealed to you and you can understand what happened in the embryo, thats a really spectacular moment.” 

And once the team has analyzed this important data they store everything in LabArchives without fear of loosing or misplacing anything. 

A great example of the power this gives the lab is this one Moody mentioned: she visited a professor in the lab and it was decided that a good place for him to jump into her project was in the midst of some data that was taken ten years ago by undergraduate researchers. 

Moody had folders and notebooks from these students who were a decade gone. And this professor went “crazy” trying to pull out what was stored away. Moody knew that there was a lot of good information in the paper archives but they were all over the place. Everyone had kept their data in a different format and with different levels of detail. 

With LabArchives the lab now has a template for how data is to be reported and there is consistency. When a student leaves the lab no data is lost in this very important health puzzle. 

Success

In the last four years, Moody’s lab has published several scientific papers and used LabArchives for documentation on all of them. But none of this happened overnight. “When we started out with LabArchives, the support team helped us get set up and gave us all kinds of pointers through a group workshop.”

At the moment the lab is working to wrap up several papers. Four are in process at about 75% done.

These papers report on the lab’s investigation of genes that are involved in a variety of human birth defects in order to learn how to help children overcome the problems these cause. In one case, the information gathered about genes involved in ear development by Moody’s lab will help identify children at birth who will have hearing problems. And the NIH funded program project is working to figure out ways to help children overcome feeding issues that contribute to difficult development. 

Thanks to Sally Moody and her entire lab for all of their research efforts!

 

Checkout the lab’s published work here:

https://www.sciencedirect.com/science/article/pii/S0012160618303427?via%3Dihub

https://pubs.acs.org/doi/10.1021/acs.analchem.9b00345

https://www.sciencedirect.com/science/article/pii/S0012160617302725?via%3Dihub

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