“My current research is to discover coding and noncoding variants and genes for Hirschsprung's disease, which is a rare complex disease with over 60% genetic heritability. We believe that identifying the best methods to address the genetics of this disease will not only benefit its treatment and prevention, but also expedite the genetic discovery of other similar diseases.”

How did the CFDE data sets help you in your analysis?

Our lab have discovered that individuals with Down syndrome have a 100x higher risk of developing Hirschsprung's disease than the general population a while ago. However, at that time, it was not easy to collect enough samples of patients Down syndrome to further investigate this. CFDE has many Down syndrome projects rich with genetic data. Now we will have the power to investigate this by incorporating data from CFDE.

Did you explore multiple data coordinating centers (https://commonfund.nih.gov/dataecosystem) in CFDE for collecting data for your analysis? 

Yes, genetic discovery is the first step. To validate and prioritize the variants and genes, I explored datasets like GTEx to identify functional variants and genes expressed in the gut, where the disease takes place. Additionally, as rare diseases often share common features, I checked Kids First to see what genes are there in neuroblastoma and other congenital neuronal disorders.

What challenges have you encountered, and how have you overcome them using CAVATICA?

There are countless ways to analyze data, but building a streamlined analysis pipeline can be challenging, especially without extensive experience. Therefore, I utilized the ready-to-use pipelines at CAVATICA to gain insights in terms of both bioinformatics and scientific inquiry.

How do you see your research evolving in the next few years?

I believe the pace of genetic disease discovery will be significantly accelerated by technological advancements. Faster and more reliable cloud computing, powerful artificial intelligence, and growing multi-omics databases will help in identifying and prioritizing disease-related variants and genes, as well as finding potential treatment strategies quickly.

Do you have any advice for others in the field who are new to CAVATICA?

I would encourage anyone new to CAVATICA to attend the workshops and office hours. They are incredibly beneficial for understanding the basics of CAVATICA, addressing personal research/technical questions, and gaining inspiration from other researchers engaged in similar work.