Case Studies

Rare Disorders: Rapid Research on Small Patient Populations

More than 300 million people live with at least one of 6,000+ identified rare diseases. Most of these diseases are chronic, degenerative, and they occasionally result in early death. A majority of rare diseases are genetic, with symptoms first arising during childhood.

Specialized At-Home Sample Acquisition Rapid Research on Small Patient Populations

In recent decades, rapid progress in science and technology has introduced increasingly precise and accurate tools for exploring potential therapeutic avenues. As scientists probe deeper into the inner workings of health and disease, the questions they ask become more specific, the studies they design become more intricate, and their sampling criteria becomes more stringent.

Seeking a Cure for Sickle Cell Disease

Sickle cell disease (SCD) refers to a collection of blood disorders that are mostly hereditary. SCDs generally arise from mutations in hemoglobin-encoding genes that often lead to red blood cells (RBCs) exhibiting a characteristic rigid sickle-like shape. The majority of sickle cell disease cases occur in populations with Sub-Saharan African genetic profiles, as well as in individuals with Indian and Arabian backgrounds.

Cancer and the Microbiome

The microbiome is an essential player in human health and disease. Gut microbiota dysbiosis associates with several cancers due to microbial products that cause inflammation, oncogenic gene expression changes, or genetic material destruction.  For example, people with colorectal cancer have different microbes in the tumor microenvironment than in adjacent healthy mucosa.