Maureen Leonard, MD, with a CDGEMM participant
Maureen Leonard, MD, with a patient in the Celiac Center

Genomic

The word “genomic” describes genetic information, or information from DNA, that everyone inherits from his or her parents. All living things are made of cells, and genes are the part of cells that contain the instructions that tell our bodies how to grow and work. Genes determine physical characteristics such as hair and eye color and are passed down through families. In the CDGEMM study, we are going to study children who have a first-degree relative with celiac disease so that we can understand how their genes may contribute to whether they develop CD or not. Scientists and doctors already know about one group of genes, called the HLA DQ2 and DQ8 genes, which are involved in the development of CD.

About 1/3 of the general population has the DQ2/DQ8 genes. Not all of these people go on to develop CD, and we are interested in learning exactly why this is. Though the genes are necessary for development of CD, they cannot alone predict who will develop the disease. We hope that the CDGEMM study will help us to learn more about these specific genes and also to identify other genes that could make it easier to predict who will develop CD.

Environmental

It is well known that our environment and surroundings influence our health. In the CDGEMM study, we will consider many environmental factors including method of delivery (vaginal or cesarean section), antibiotic use, breast or formula feeding and time of introduction to certain foods. We will also consider other parts of your baby’s medical history including illnesses, infections, and growth over time. We hope to understand whether any of these factors, alone or in combination, contribute to the development of CD. If we find that any one factor, or combination of factors, increases the risk of developing CD, we will be able to apply this information and help prevent or detect disease in high-risk children in the future.

Microbiome

Our gut, compromised of the small and large intestine, contains many types of bacteria. These bacteria help to break down and digest food, provide our bodies with energy, and make vitamins that our bodies need. This diverse community of bacteria is called the gut microbiome. One of the most important roles of gut bacteria is aiding in the development of our immune system. It is believed that the gut microbiome plays a role in the development of CD. In the CDGEMM study, we hope to learn more about this relationship by studying the members of the gut microbiome before and after disease development. By doing this, we will uncover patterns in the gut microbiome that will help us predict who will develop CD before it happens.

Metabolomic

The processes that occur in our gut, such as the digestion of foods and production of vitamins, create products that are called metabolites. The specific metabolites that we produce differ from person to person and depend on many factors, including our genes, members of the gut microbiome, and food choices. The collection of metabolites produced by a sample is called the metabolome. We will study the metabolomes of different infants while taking note of any changes to their environment and monitoring them for CD. Studying the metabolites in this way is called metabolomics. In doing this, we hope to find patterns, or specific metabolomic profiles, that might predict when someone may develop CD before it happens.

Back to Top