Jessica Waxler, MS CGC

Jessica Waxler (she/her) is the Genetic Counselor Program Manager. Jessica is a genetic counselor primarily supporting in-person clinical research assessments for individuals with rare neurogenetic conditions. She also sees patients with Dr. Chung in the Boston Children’s Genetics and Metabolism Clinic. Prior to joining the Chung team, Jessica worked in the Medical Genetics department at Massachusetts General Hospital and has had a longstanding interest in neurodevelopmental diagnoses. Outside of work, she enjoys spending time with her husband and two children, trying new foods, and reading.

Alexa Geltzeiler, ScM CGC

Alexa a certified genetic counselor in the Department of Pediatrics at BCH. She is a graduate of the Johns Hopkins/NHGRI genetic counseling training program. In addition to seeing patients clinically, her research focuses on the diagnosis and natural history of rare genetic neurodevelopmental disorders.

Joanne Carroll, CPNP

Joanne Carroll is a pediatric nurse practitioner. Joanne works in the genetic clinic and sees patients participating in clinical trials, such as studies that involve ASO research.

Charles LeDuc, PhD

Charles LeDuc is a member of the faculty. Formally trained in Chemical and Biomedical Engineering, Charles has worked on chemical warfare research, genetics, and obesity in the past. His expertise is in genetics, expression, mouse genetics, epigenetics, ASO development, and molecular biology. He brings molecular genetics and molecular biology perspective primarily to obesity and diabetes research. The primary way we model these systems is with murine models.

Amanda J. McPartland

Amanda (she/her) is a research assistant in the Chung Lab. She has a strong research focus in genetic and molecular biology. She assists in the processing of samples from several studies such as the DHREAMS and CARE studies, as well as the sequencing of patient genomes and maintaining primary cell lines from human derived samples. Her research interests center around rare genetic disease as well as possible therapeutics through gene therapy.

Madeline Smith

Maddie (she/her) is a senior clinical research coordinator. In her role, she supports several research studies in the Chung lab. Her primary research interests center around child and human development, specifically neurodevelopmental disorders. Outside of work Maddie enjoys reading, playing volleyball, and spending time outside.

Bernadette Spina

Bernadette Spina (she/hers) is an Administrative Coordinator that provides operational support for the lab and office. She executes a wide variety of responsibilities pertaining to unit finance, administration, communications, and provides administrative support to faculty and staff.

Carrie Welch, PhD

Carrie L. Welch (she/her/hers) is a Member of the Faculty of Pediatrics. Carrie’s research focuses on rare disease gene discovery and molecular mechanisms, individual genetic diagnoses, and clinical characterization of genetic subtypes of pulmonary hypertension, congenital heart disease, congenital diaphragmatic hernia, and other rare conditions. She has developed a humanized Flnc knock-in mouse model of pediatric cardiomyopathy and is testing the genetic reversibility of diastolic dysfunction. She serves on two Clinical Genome expert panels providing clinical classification of pulmonary hypertension genes and variants. She also serves on the scientific advisory board and genetics working group for TBX4Life, a family-run organization for TBX4 syndrome families.

Xiaoqi Lin

Xiaoqi Lin (She/Her) is a Bioinformatic Analyst in the Department of Systems Biology at Columbia University. Her research involves developing and improving computational pipelines for genomic data analysis, particularly in the context of health and disease conditions, and advancing computational methods for predicting the genetic impact of genomic variations.

Lu Qiao, PhD

Lu (She/Her) is an Associate Research Scientist in the Department of Pediatrics, Division of Molecular Genetics, at Columbia University Medical Center. Her work focuses on the human genetics of autism and congenital anomalies including congenital diaphragmic hernia, and congenital heart disease.

Carrie Koval, MS GCG

Carrie has been a certified genetic counselor for over 25 years. She has worked with families at risk for genetic conditions including childhood and adult-onset conditions. Carrie works with underserved communities and is bilingual in English and Spanish. She has been involved with newborn screening pilot programs for the past 5 years.  She interacts directly with participants of newborn screening studies to provide genetic counseling and facilitate genetic testing as needed.

Brenna Boyd, MS CGC

Brenna is a genetic counselor and research manager. As part of the GUARDIAN study team, she supports the research assistants, manages data, and directly interacts with families to return results and support follow-up. She is passionate about expanding access to research and care for people from underserved populations, as well as advocating for inclusive practices and flexible approaches to address disparities in research participation. A Montana native, Brenna enjoys exploring NYC and regional landscapes.

Anah Hetzler, MHA

Anah serves as an administrative manager for the research team. She provides logistical and human resources support for the group and works with IRBs to maintain compliance. She enjoys family time with her two little boys and husband, trying new foods, as well as traveling.

Candace Cameron

Candace has a background in classical ballet. She graduated from NYU and works as a clinical research assistant working with the electronic Medical Records and Genomics (eMERGE) study and several clinical trials.

Onassis Castillo Ceballo

Onassis Castillo Ceballo (she/her/hers) is an experienced medical and public health professional. She completed her medical training in Dominican Republic. She has worked previously at New York University Langone Health on research focused on identifying the role of environmental exposures in childhood obesity and cardiovascular risks. Now she works as a Clinical Research Project Manager at Columbia University Irving Medical Center. She works primarily with the electronic Medical Records and Genomics (eMERGE) and the Genomic Uniform-screening Against Rare Disease In All Newborns (GUARDIAN). Her work focuses on reducing the existing disparities in vulnerable populations.

Billy Jin

Billy Jin (he/his/him) is a research assistant and also a graduate student pursuing his MPH. He is passionate about science communication and enjoys making a difference in helping babies be healthy. In his free time he enjoys cooking, fishing, and hanging out with his pet bunnies.

Winnie Chen

Winnie recently graduated from Boston University with a B.A. in Chemistry. She is currently a research assistant where she enjoys interacting with newborn families. She is passionate about ensuring that all families have equitable access to medical services and information.

Sophia Trojanowski

Sophia is a research assistant on the GUARDIAN study. She recently graduated from Hofstra University with a B.S in Biology and minor in Psychology. She hopes to pursue a career in medicine focused on the importance of preventative medicine and genetics.

Meli Quevedo

Meli is a bilingual research assistant for the GUARDIAN study. She is passionate about research in underserved populations and ensuring the voices of vulnerable populations are heard and respected throughout the process.

 

Collaborators

Shen group in Systems Biology

The Shen Lab studies human biology and diseases using genomic and computational approaches. They are developing new methods to identify genetic causes of human diseases and to understand the dynamics of adaptive immune system. Our research is at the interface of computer science, statistics, biology, and medicine.