Mary L. Marazita, PhD

Distinguished Professor, Department of Oral and Craniofacial Sciences
School of Dental Medicine, University of Pittsburgh School of Medicine

Founder and Co-Director, Center for Craniofacial and Dental Genetics
Professor, Department of Human Genetics, Graduate School of Public Health
Professor, Clinical and Translational Science Institute, School of Medicine
Professor, Department of Psychiatry, School of Medicine

Research Interests

Dr. Marazita has many years of experience in research with more than 420 publications to date, and continuous NIH funding since 1985.  Her major contributions include many studies of genetics/genomics and phenotypes in nonsyndromic orofacial cleft families, genetic studies of oral diseases, genetic studies of facial variation, and multidisciplinary studies of oral health disparities. Her major research contributions include: (i) Paradigm Shift in the Understanding of the Etiology of Orofacial Clefts (Cleft Lip and Cleft Palate); (ii) Molecular Genetics/Genomics of Orofacial Clefts (OFC); (iii) Deep Phenotyping Approach to Orofacial Clefts; (iv) Multidisciplinary Approach to Oral Health Disparities in Appalachia; and (v) Genetics of Dental Caries and other Oral Diseases.   See MyNCBI bibliography for publications.  Note that an important theme in her research is inclusion of diverse populations within the US, and also via long-standing collaborations with researchers and participants from every continent except Antarctica.

Technique Expertise or Resources to share

Human genetics/genomic studies (employing every type of human genetic technology over the years, most recently SNP genotyping and whole genome sequencing)

Statistical genetics (linkage analysis, affected relative pair analyses, association analyses especially genome-wide association studies (GWAS), analyses of rare variants, meta-analyses and other statistical techniques)

Craniofacial birth defects (notably orofacial cleft defects such as cleft lip and cleft palate)

Oral health (particularly oral health in children, notably dental caries; also periodontal diseases, enamel hypoplasia, fluorosis and others).

Oral microbiome (microbial ecology, metagenomics, host x microbiome interactions)

Behavioral/epidemiology characteristics and oral health (diet, nutrition, pregnancy history, depression, child development, dental/pain fear and genetics)

Tooth development (genetics of: eruption patterns, tooth morphology, enamel morphology)

Disparities in oral health (in the context of families and communities)

Diversity (population diversity in craniofacial birth defects and oral health).

Deep phenotyping (in all studies, craniofacial birth defects and oral health, with some of the oral health studies having longitudinal data collection).

Human family cohorts (extended family data, trio data (parents and child), cases, controls) with deep phenotyping

Keywords

Cleft lip, cleft palate, dental caries, periodontal disease, diversity, health disparities, oral health disparities, human genetics, human genomics, statistical genetics, tooth development, tooth morphology, enamel structure and morphology, phenotyping, birth defect genetics, oral health genetics, GWAS, whole genome sequencing, prematurity, oral microbiome, metagenomics, microbial ecology, diet, pregnancy history, epidemiology, oral health behaviors, deep phenotyping