Study Team

Dr. Tippi MacKenzie is a pediatric and fetal surgeon who is focused on developing better ways to diagnose and treat genetic diseases before birth.

Dr. Paul Harmatz is a gastroenterologist who specializes in MPS and other lysosomal storage diseases.

Dr. González Vélez is instrumental in performing procedures to deliver novel fetal therapies to patients and supporting the management of complicated pregnancies.

Emma Canepa oversees, plans, and directs the PEARL Trial and other clinical research projects, and evaluates and analyzes clinical data.

Billie Lianoglou works closely with doctors who specialize in high-risk pregnancies to educate families on potential genetic risks for fetal abnormalities or complications.

Dr. Dawn Gano specializes in diagnosing and treating neurological disorders that present in fetuses and newborns, as well as long-term follow-up throughout childhood and adolescence.

Dr. Anita Moon-Grady has training in both pediatric cardiology and neonatal/perinatal medicine. She specializes in pediatric and fetal echocardiography and intraoperative assessment during congenital cardiac surgery and fetal surgery.

Dane Munar coordinates and helps analyze the PEARL Trial and other clinical research project data.

Dr. Irene Chang, MD, MSc, FACMG, is a pediatrician and medical geneticist specializing in biochemical genetics, with particular expertise in Gaucher disease.

Dr. Pranesh Chakraborty focuses on inherited metabolic diseases and newborn screening. He is involved in newborn screening policy, the development of novel laboratory diagnostic and screening methods, translational metabolomics, and disease pathophysiology research. 

Dr. Jennifer Cohen has research interests and expertise in perinatal genetic medicine with a focus on earlier diagnosis and management of rare genetic diseases. She is involved in the Pompe disease gene therapy trials at Duke and is the site PI for a Gaucher gene therapy clinical trial.

Dr. Renata C. Gallagher cares for children and adults with rare disorders. Her expertise includes blood tests given at birth as part of a test series designed to identify children with certain treatable conditions that appear early in life.

Dr. González Vélez is instrumental in performing procedures to deliver novel fetal therapies to patients and supporting the management of complicated pregnancies.

Dr. Paul Harmatz is a gastroenterologist who specializes in MPS and other lysosomal storage diseases.

Dr. Priya S. Kishnani is a pediatrician with a subspecialty in clinical and biochemical genetics. She has specific expertise in lysosomal storage disorders, including Pompe disease, Gaucher disease, Fabry disease, and MPS disorders.

Dr. Anita Moon-Grady has training in both pediatric cardiology and neonatal/perinatal medicine, she specializes in pediatric and fetal echocardiography and intraoperative assessment during congenital cardiac surgery and fetal surgery.

Dr. Mary Norton primarily cares for pregnant women who have a fetus with a birth defect or genetic disorder. She interprets complex genetic tests, especially when abnormalities are found.

Dr. Teresa Sparks is a specialist in both Maternal-Fetal Medicine and Clinical Genetics. She cares clinically for patients at increased risk of pregnancy complications and runs an active research program focused on understanding the genetic diseases leading to non-immune hydrops fetalis.

Dr. Deeksha Bali specializes in the development of new, non-invasive laboratory diagnostic methods. She uses enzymology and molecular diagnostic techniques for glycogen storage diseases and lysosomal storage diseases like Pompe, Fabry, Gaucher, and MPS for early diagnosis and treatment modalities.

Dr. Beltran Borges is a postdoctoral scholar in the MacKenzie Lab. He investigates various fetal molecular therapies in small and large animal models as well as collaborating on the PEARL trial.

Dr. Julia Brown is an anthropologist and bioethicist conducting an “embedded ethics” ethnography on the emergence of prenatal gene therapies and the tensions around social inclusion for underrepresented communities.

Dr. Michael Gelb combines chemical, molecular, and cellular biochemistry techniques to study enzymatic processes with current research focus on newborn screening technology for inborn errors of metabolism

Dr. Akos Herzeg is a Maternal-Fetal Medicine specialist and a fetal surgeon performing procedures to deliver novel fetal therapies to patients. He was the inaugural senior fellow of the CMFPM. He works closely with Dr. MacKenzie on clinical applications of fetal molecular therapies, including fetal gene therapies and fetal enzyme replacement therapies.

Zackary (Ari) Herbst is a research scientist and the Chief Science Officer at GelbChem, LLC focused on method development for newborn screening and drug development for neglected tropical diseases.

Dr. Laura Pollard is the Director of the Biochemical Genetics Laboratory and specializes in the diagnosis and monitoring of patients with a wide variety of lysosomal storage disorders.

Dr. Sarah Young is a clinical biochemical geneticist whose research interests are focused on improving laboratory diagnostics for rare inherited disorders of metabolism. Her current research focuses on biomarkers for lysosomal storage disorders, such as Fabry, Pompe disease, and mucopolysaccharidoses, including monitoring the response to novel therapies in patients.