ACT-GeM Laboratory

ACT-GeM: Advancing children's health, one genome at a time.

The Advanced Center for Translational and Genetic Medicine (ACT-GeM) was founded in 2019 to tackle research questions at the intersection of genetics, genomics, cell biology and clinical investigation. This Center offers a unique, project-based atmosphere that is highly collaborative in a shared-resource setting.

Research Topics

Ciliopathies
Undiagnosed Rare Congenital Disorders
Neurodevelopment and Neurodegeneration

Contact

Research Highlights

Focusing primarily on pediatric genetic disorders, ACT-GeM's mission is to improve our knowledge of genetic variation that causes these disorders and modulates their severity; discover pathomechanisms at the cellular and biochemical level; and develop cutting-edge therapeutic modalities that will improve the health and well-being of our patients and their families. Our research themes focus on but are not limited to:

  1. Acceleration of gene discovery in proximal and global pediatric cohorts
  2. Understanding the contextual effect of genetic variation to explain pleiotropy, variable expressivity, and epistasis
  3. Development and application of experimentally tractable models to delineate underlying pathomechanism
  4. Establishing in vitro and in vivo assays for human disease modeling that are suitable for medium and high throughout drug screening
  5. Synthesis of clinical investigation and basic experimental biology to advance molecular diagnosis and identify suitable treatment

This international group of faculty and staff is comprised of accomplished, motivated, and creative scientists with diverse backgrounds and skillsets. ACT-GeM is uniquely positioned within Stanley Manne Children’s Research Institute, housed at Ann Robert H. Lurie Children’s Hospital of Chicago, to bridge the gap between basic discovery and implementation in a clinical setting. We are also affiliated with the Northwestern University Feinberg School of Medicine, bringing to bear a wider network of expertise, as well as opportunities for scholarship.

Principal Investigator

Lab Members

Sharon Aufox, MS, CGC

Genetic Counselor

Georgios Kellaris, MS, PhD

Graduate Student

Kamal Khan, PhD

Postdoctoral Associate

Sheraz Khan, MS

Graduate Student

Elizabeth LeClair, PhD

Research Scientist

Farid Ullah, MS, PhD

Postdoctoral Associate

Abraham Velazquez, BS

Research Technician II

Hammad Yousaf, MS

Graduate Student