Center for Clinical Genetics
and Genomics

Our Research


Basic and Translational Research

The Center of Clinical Genetics and Genomics includes a multidisciplinary team of clinicians and scientists with interests in developmental and functional biology of genetic disease, diagnostic and therapeutic approaches to monogenic and complex trait genetic conditions, development and implementation of novel genomic technologies into clinical practice. Working together we focus on discoveries of the underlying causes, clinical implications of genetic changes, and development of novel approaches for diagnosis and treatment of genetic conditions.

Research Areas of Interest:

  • Genetic causes of neonatal, fetal and pediatric congenital birth defects;
  • Molecular and chromosomal mechanisms of heritable disorders;
  • The X chromosome alterations and its role in human disease and reproduction
  • Genomic bases of connective tissue disorders and inborn errors of metabolism;
  • Genetic bases of developmental control of the reproductive tract and associated pathologies;
  • Prenatal screening and diagnosis of congenital anomalies;
  • Diagnosis and treatment of inborn errors of metabolism and mitochondrial disorders;
  • Translational aspects to diagnosis and treatment of male and female infertility;
  • Genomic alterations resulting in neurobehavioral disorders;
  • Clinical diagnosis and management of patients with cancer predisposition syndromes;
  • Acquired genetic defects in hematological malignancies;
  • Genetic bases of gynecological tumors and delineation of molecular cytogenetic abnormalities in abnormal conceptions


Ongoing Studies Open for Enrollment

Learn about our current clinical studies

Clinical Studies for Genetic and Rare Diseases

Ongoing clinical and basic research studies conducted by our faculties and collaborators