Answering research questions relating to disease biology and precision medicine. We collaborate with clinicians, researchers, and foundations in the US and worldwide to translate data into knowledge to drive the discovery, development, and delivery of omics-based precision medicine. As part of the UAB School of Medicine and Department of Genetics, we aspire to help patients, families, and those who take care of them by developing and applying groundbreaking tools and strategies for diagnosis and prognosis. 

Research Areas

At CGDS, we help patients, families, and caregivers find answers by analyzing omic data with our computational tools and methods we develop and/or implement. We collaborate with clinicians from various fields to provide clear molecular insights. Our partnerships extend across numerous diseases, both rare and common including:

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), Ciliopathies, Cystic Fibrosis (CF), Prader-Willi Syndrome (PWS), Muscular Dystrophies (MD), Multiple Chorangioma Syndrome, Pediatric Thyroid Cancers (PTC), Pulmonary Arterial Hypertension (PAH), Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) 

Learn More about our Research

Impact

Our key discoveries include:

Cystic Fibrosis (CF)

  • Determined the impact of intrinsic and extrinsic risk factors on early-onset lung disease in CF
  • Identified genetic factors that help explain the variable responses of young children with CF to vitamin D supplements
  • Detected molecular modifiers in patients with CF

Cancer

  • Characterized the genetic variants in Juxtaglomerular Cell Tumors
  • Contributed to somatic mutational landscape in cirrhotic-like (cirrhotomimetic) Hepatocellular Carcinoma
  • Investigation the oncogenic variation in pediatric patients diagnosed with Differentiated Thyroid Cancer

Congenital Disorders

  • Discovery of rare copy number variants for PHACE syndrome
  • Definitive diagnosis in a child with intractable inflammatory bowel disease

Recent News

Who are we? How do we work?

  • We love doing science and engineering, and we feel lucky to be part of this team doing this work together.
  • We strive for excellence in all we do and look to be our own toughest critics
  • We are one team with many specialties, working collaboratively in pursuit of science, and we are open and transparent in our goals
  • We are willing to step up to new opportunities and tough challenges
  • We seek productive and constructive criticism from colleagues
  • We are accountable for our errors; the buck stops with us, individually and as a team.
  • We strive to be generous with our time and resources
  • We are willing to work hard to solve hard problems
  • We are a little intense at times and for sure a bit quirky, and we like it that way; it’s one of our strengths
  • We value the diversity of our team, which we think should mirror the diversity of the people our team serves
  • We care a lot about maintaining an inclusive culture
  • We do not take ourselves too seriously
  • We embrace the concept of ‘a rising tide lifts all boats’; accomplishments of any team member contribute to the overall good reputation of our team and helps us all

Photo by National Cancer Institute on Unsplash
Featured Image – Photo by Sangharsh Lohakare on Unsplash