Structural Birth Defects Professors and Supervisors

Lisa JamiesonView profile

Professor

The University of AdelaideAustralia

Dr Lisa Jamieson is a Professor and NHMRC Senior Research Fellow at the University of Adelaide's Australian Research Centre for Population Oral Health. She holds a NHMRC Senior Principal Research Fellowship and directs the Indigenous Oral Health Unit, a globally recognized research group. Her academic roles include Director of the Indigenous Oral Health Unit, Convenor of the Animal Ethics Committee (Medical), and Past President of the International Association of Dental Research’s Behavioral, Epidemiologic, and Health Services Research group. Dr Jamieson earned a PhD in Oral Health Disparities from the University of Otago School of Dentistry (2004), a Master of Community Dentistry (2000), and a Bachelor of Dental Surgery (1994). She has supervised numerous PhD and DClinDent students, including current advisees such as Eleanor Parker and Philip Nguyen. Her research focuses on Indigenous oral health equity, clinical trials, cohort studies, and surveillance. Notable achievements include establishing four research interventions for Indigenous Australians and co-developing the dental component of the Aboriginal Birth Cohort's Wave-3. She has published widely, with over 200 peer-reviewed articles, and serves on editorial boards of journals like BMC Public Health and Community Dentistry and Oral Epidemiology . Awards include the 2020 International Association of Dental Research Distinguished Scientist Award and NHMRC fellowships (2016, 2012, 2008). She has led major grants, including an NHMRC L2 Investigator Grant (2022–2026) for advancing Indigenous oral health research. Her work emphasizes policy contributions, equity advocacy, and culturally secure healthcare systems. Dr Jamieson has organized over 50 international conferences/symposia and co-authored special journal issues on Indigenous oral health methodologies. Her research addresses systemic inequities, food sovereignty, and antiracist health system design, with a focus on Indigenous-led methodologies and community partnerships.

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Steffen MaakView profile

Professor

Research Institute for Farm Animal BiologyGermany

Prof. Dr. Steffen Maak is a leading researcher at the Leibniz Institute of Farm Animal Biology (FBN) in Dummerstorf, Germany, where he serves as Head of the Institute of Muscle Biology and Growth, Head of the Nutrition and Metabolism Competence Field, and leader of the Muscle-Fat Interaction Working Group. He holds adjunct teaching positions at the University of Rostock and Martin Luther University Halle-Wittenberg, contributing to programs in agricultural sciences, environmental sciences, and molecular biology. His research focuses on the biology of skeletal muscle in farm animals, meat quality, and the role of adipokines and myokines in regulating muscle and fat tissue. Key areas include intramuscular fat deposition, myogenesis, lipid metabolism, and metabolic interactions between muscle and adipose tissues in livestock such as pigs, cattle, and poultry. His recent publications (2021–2024) reveal a strong trend in sustainable animal nutrition (e.g., black soldier fly larvae), metabolic responses to dietary supplements (e.g., glutamine, fatty acids), genetic regulation of meat quality traits, and molecular mechanisms underlying developmental disorders like congenital splay leg in piglets. His work integrates genomics, physiology, and nutrition to improve animal productivity and product quality. Prof. Maak has no listed scientific awards in the provided text, but his extensive collaborative research and high publication output indicate significant scientific impact. He supervises multiple research projects and collaborates with international teams across Europe and Africa. His advising role includes mentoring junior scientists and coordinating working groups, though specific student names are not listed. He is affiliated with the Muscle-Fat Interaction Working Group and leads research on metabolic cross-talk in farm animals. His laboratory investigates cellular and molecular mechanisms of muscle and fat development, utilizing models such as piglets, broilers, and cattle.

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Monica ColaiácovoView profile

Professor

Harvard UniversityUnited States

Dr. Monica Colaiácovo is a Professor of Genetics at Harvard Medical School's Department of Genetics within the Blavatnik Institute. She serves as Associate Director of the Biological & Biomedical Sciences (BBS) Program and leads an active research laboratory focused on meiosis and reproductive biology. Her work is conducted at the New Research Building, Room 334, 77 Avenue Louis Pasteur, Boston, MA. Dr. Colaiácovo's research investigates the molecular mechanisms underlying germline maintenance and accurate chromosome inheritance during meiosis. Her laboratory applies combined genetic, molecular, cytological and biochemical approaches using C. elegans as a model system. Key research areas include: understanding faithful meiotic chromosome inheritance mechanisms; exploring meiotic chromosome dynamics and post-translational modifications; investigating chromatin landscape regulators in germline maintenance; and identifying meiotic pathways affected by environmental toxicants. The lab has made significant contributions to understanding synaptonemal complex assembly, DNA double-strand break repair, and the effects of chemicals like BPA and DEET on reproductive health. Her recent publications reveal concerning effects of common chemicals on reproductive biology, with notable 2024 work on DEET's impact on meiosis receiving widespread media attention. The lab's research demonstrates how environmental exposures disrupt chromosome segregation, leading to infertility and birth defects. Current work focuses on high-throughput screening of environmental toxicants and developing protective strategies like Coenzyme Q10 to counteract chemical effects. Dr. Colaiácovo has successfully mentored numerous graduate students to completion of their PhD theses, including Ayana Henderson (2024), Altendorfer (2020), and Cuenca (2019). Her laboratory maintains active collaborations across Harvard Medical School and has developed innovative screening platforms for environmental toxicants. Current lab members include Research Associate Laura Ivon Lascarez Lagunas and graduate students Brianna Diaz-Pacheco and Gabrielle Webb. The Colaiácovo lab operates within Harvard Medical School's Department of Genetics, utilizing advanced imaging and genomic techniques in their C. elegans research. The laboratory participates in departmental retreats and has won multiple poster awards. They maintain strong connections with the Boston Area Worm Meetings and contribute to the broader C. elegans research community through reagent sharing and collaborative science.

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Hans HvideView profile

Professor

University of AberdeenUnited Kingdom

Hans Hvide is a Professor of Economics at the University of Aberdeen's Business School, where he holds a Chair in Economics. His research spans a broad range of topics in economics, finance, entrepreneurship, and health, with a strong focus on empirical and theoretical analysis of individual and firm behavior. His research interests include entrepreneurship , labor economics , behavioral finance , innovation , and health economics . He investigates how individual characteristics such as risk tolerance, work experience, and social interactions influence economic decisions, firm performance, and investment behavior. His work often employs large-scale datasets and rigorous econometric methods. The most recent publications reflect a trend toward interdisciplinary research, combining economic theory with public health data (e.g., mental health during COVID-19, parental age and birth defects) and technology adoption (e.g., broadband internet and stock investments). His earlier work focuses on corporate governance, knowledge worker management, and the role of entrepreneurs in firm success. Hans Hvide has published in leading journals such as The Journal of Finance , The Review of Financial Studies , Management Science , and American Economic Review . His publications demonstrate sustained scholarly impact across multiple domains of economics and finance. He collaborates with researchers across institutions and countries, contributing to both academic discourse and policy-relevant insights. Although no formal advising or grant information is listed, his extensive publication record and senior academic position suggest active mentorship and research leadership. Hans Hvide is affiliated with the Centre for Labour Market Research (CeLMR) at the University of Aberdeen, indicating engagement with a structured research group focused on labor, education, and economic policy.

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Tania A. DesrosiersView profile

Associate Professor

University of North Carolina at Chapel HillUnited States

Dr. Tania A. Desrosiers is an Associate Professor in the Department of Epidemiology at the University of North Carolina at Chapel Hill’s Gillings School of Global Public Health. She is a core faculty member of the Reproductive, Perinatal and Pediatric Epidemiology program and co-principal investigator of the North Carolina Center for Birth Defects Research and Prevention, funded by the CDC. Her research focuses on the etiology and prevention of structural birth defects, particularly through the National Birth Defects Prevention Study and the BD-STEPS study. Education: PhD in Epidemiology, University of North Carolina at Chapel Hill (2011) MPH in Public Health, Tufts University School of Medicine (2003) Research Interests: Dr. Desrosiers specializes in perinatal epidemiology, with expertise in developmental biology, occupational and environmental exposure assessment, and interdisciplinary collaboration. Her work examines risk factors such as maternal and paternal exposures, neighborhood environments, and social determinants of health to identify preventable causes of birth defects. She emphasizes translating findings into clinical and public health interventions. Grants and Collaborations: She leads the North Carolina Center for Birth Defects Research and Prevention, part of a national CDC-funded network. Her current focus includes investigating childhood mortality linked to birth defects and exploring associations with conditions like childhood cancer. Her team pools data across 10 U.S. centers to enhance research impact. Labs/Teams: Involved in the BD-STEPS study infrastructure, leveraging interdisciplinary partnerships to address birth defect epidemiology through surveillance and genomic studies.

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Jonathon HillView profile

Associate Professor

Utah State UniversityUnited States

Jonathon Hill serves as an Associate Professor in the Department of Cell Biology and Physiology at Brigham Young University, where his research centers on the molecular mechanisms governing embryonic heart development. His work specifically examines the genetic regulation driving the transformation of the primitive linear heart tube into the complex four-chambered adult structure. The Hill Lab employs an integrated methodology combining computational bioinformatics with experimental bench techniques to dissect gene expression networks during cardiac morphogenesis. This research directly addresses congenital heart defects—the most common category of birth anomalies—by seeking to elucidate fundamental developmental pathways whose disruption leads to structural cardiac abnormalities. The ultimate translational goal involves improving diagnostic precision and therapeutic interventions for pediatric heart conditions. No scientific awards or honors were documented in the provided profile. While specific grant funding and current student advisees were not enumerated, Dr. Hill's research program operates within a laboratory environment dedicated to advancing understanding of cardiac developmental biology through interdisciplinary collaboration. The Hill Lab functions as the primary research unit under Dr. Hill's direction, utilizing genomic and molecular approaches to investigate critical windows in heart formation where developmental errors manifest as congenital disease.

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Dave SprattView profile

Professor

University College LondonUnited Kingdom

Dave Spratt is Professor of Microbial Ecology and Education at the UCL Eastman Dental Institute , University College London . His work focuses on understanding microbial population shifts in polymicrobial diseases using molecular techniques like metagenomics, spanning oral, respiratory, and systemic health. Education: PhD (University of West England, 1994), BSc (Bristol Polytechnic, 1990) Roles: Director of Education for Eastman Dental Institute, Co-Director of Applied Medical Science undergraduate programme, Faculty Graduate Tutor, Vice Head of Doctoral School Research interests include the human microbiome in health and disease (oral cavity, lungs, liver, kidneys, primate gut), biofilms, and microbial ecology. His work bridges clinical applications (periodontitis, implant infections, diabetes) with fundamental microbial physiology. Scientific contributions span oral biofilm dynamics , periodontal microbiology , airway microbiome , and implant material interactions , with funding from EU, MRC, BBSRC, Wellcome, and industry partners. Teaching initiatives include curriculum development for MSc and BSc programmes, emphasizing modern microbiology concepts and practical clinical sample processing skills for dental professionals.

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Devi AtukorallayaView profile

Associate Professor

University of ManitobaCanada

Dr. Devi Atukorallaya is an Associate Professor in the Department of Oral Biology at the Dr. Gerald Niznick College of Dentistry, University of Manitoba. Her research focuses on the morphogenetic mechanisms of craniofacial organ development, particularly exploring conserved developmental pathways in teleost fish models like zebrafish (Danio rerio) and Mexican tetra fish (Astyanax mexicanus) to understand human structural birth defects. Education: Bachelor of Dental Surgery (BDS), University of Peradeniya, Sri Lanka Doctoral Degree (PhD), Tokyo Medical and Dental University, Japan Postdoctoral Fellowship, Mount Saint Vincent University, Canada Dr. Atukorallaya’s laboratory investigates the molecular mechanisms of bitter taste receptors and chemosensory system development in vertebrates, emphasizing the evolutionary trade-offs between taste sensation and vision in cavefish. Her work bridges developmental biology, molecular genetics, and evolutionary adaptation. She actively engages in public outreach and education, delivering lectures on oral health research to healthcare workers and the general public. Her team operates in a state-of-the-art research facility at the Bannatyne Campus, exploring regenerative medicine applications through tropical fish models.

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Batool JafriView profile

Assistant Professor

University of California, Los AngelesUnited States

Batool Jafri is an Assistant Professor of Ophthalmology at the University of California, Los Angeles (UCLA), specializing in corneal disorders, external disease, and refractive surgery. She operates at the UCLA Stein Eye Center in Santa Monica, providing comprehensive eye care including LASIK, corneal transplants, and treatment for diabetic retinopathy and dry eye. Her medical training includes a Cornea/External Disease and Refractive Surgery fellowship at Emory University, residency at UCLA's Jules Stein Eye Institute, and medical degree from the University of Oklahoma College of Medicine. MD from University of Oklahoma College of Medicine (1998) Masters in Biological Chemistry at UCLA (Dean's Scholarship) Summa Cum Laude undergraduate in Organic Chemistry (University of Oklahoma) Dr. Jafri's research focuses on corneal pathologies and refractive surgical outcomes. Her work explores: Keratoconus progression mechanisms Wavefront aberration analysis in corneal disorders LASIK surgical complications Eye rubbing effects on corneal structure Corneal transplant techniques She contributes to clinical knowledge through publications in major journals including Cornea, Archives of Ophthalmology, and Journal of Refractive Surgery. Her academic contributions focus on improving diagnostic accuracy and surgical outcomes in corneal diseases. Top Doctors - Los Angeles Magazine (2023) Eye Birth Defects Foundation Humanitarian Award (2007) Alpha Omega Alpha Honor Society McGraw-Hill Outstanding Medical Student Award (1995) Dr. Jafri trains future ophthalmologists in medical and surgical techniques at UCLA while maintaining active clinical practice treating general eye conditions and complex corneal disorders. Her work combines clinical excellence with translational research in refractive surgery outcomes.

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Andrew F WagnerView profile

Associate Professor

Northwestern UniversityUnited States

Andrew F Wagner, MD is an Associate Professor in the Clinical Genetics division of Obstetrics and Gynecology at Northwestern University's Feinberg School of Medicine. He serves as co-medical director at Reproductive Genetic Innovations in Northbrook, IL, and previously held leadership roles at Insight Medical Genetics in Chicago. His educational background includes: BS: University of Wisconsin-Madison (1995) MD: University of Wisconsin (1999) Obstetrics & Gynecology Residency: Aurora Health Care, Milwaukee (2003) Clinical Genetics Fellowship: University of Pittsburgh (2005) Dr. Wagner's research focuses on reproductive genomic medicine , with pioneering work in expanded carrier screening implementation and prenatal diagnosis of chromosomal abnormalities . His studies address critical gaps in patient perspectives, partner dynamics, and access to genetic services, bridging clinical practice with psychosocial dimensions of care. Board-certified in both Clinical Genetics and Obstetrics/Gynecology, he integrates dual expertise to advance women's health genomics. Recent publications reveal a concentrated emphasis on preconception carrier screening and prenatal cytogenetics , demonstrating methodological rigor through randomized trials and case analyses. His work consistently addresses real-world barriers to genetic service utilization while exploring novel diagnostic findings like mosaic chromosome abnormalities. His scientific recognition includes: Three consecutive Outstanding Teacher Awards from Feinberg School of Medicine (2017-2020) UME Gold and Silver Awards for medical education excellence (2022-2023) Dr. Wagner actively shapes medical education as director of OB/GYN Grand Rounds since 2022 and teaches across multiple training programs. His professional leadership extends to presidency of the Central Association of Obstetricians and Gynecologists (2022-2024), where he chairs program committees and drives educational initiatives. He maintains active roles in seven professional societies including the American College of Medical Genetics and Genomics. He co-directs Reproductive Genetic Innovations, a clinical practice specializing in advanced reproductive genetic diagnostics and counseling services.

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Aarno PalotieView profile

Researcher

University of HelsinkiFinland

Dr. Aarno Palotie is a Research Director at the Finnish Institute of Molecular Medicine , affiliated with the University of Helsinki. He leads the Center of Excellence in Complex Disease Genetics and serves as a supervisor in multiple doctoral programs including Brain & Mind , Clinical Research , and Population Health . Palotie maintains external affiliations as an Associate Member at the Broad Institute of MIT and Harvard and Group Leader at Massachusetts General Hospital since 2013. Research Focus: The genomics of neurological and neuropsychiatric disorders constitutes Palotie’s core research domain, with specific expertise in biomedical sciences and neurogenetics . His work spans polygenic risk scores for schizophrenia, traumatic brain injury pathways, Alzheimer’s biomarkers , and cardiovascular genetic mechanisms . Recent publications highlight his contributions to metabolomic disease mapping , synaptic pathway analysis , and population-specific genetic architectures . Scientific Recognition: 2022: European Society of Human Genetics (ESHG) Award 2023: Media Industry Award for Health Sector Influence 2016: Helsinki City Science Award 2016/2022: Order of the White Rose of Finland 2022: Honorary Doctorate Academic Engagement: Palotie serves as editorial reviewer for Nature Genetics and Annals of Neurology , and participates in 32 international academic visits . He chairs the Galien Foundation Board (2025-2029) and advises THL (National Institute for Health and Welfare) Finland’s 2025-2029 strategic committee.

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Ethylin Wang JabsView profile

Professor

Mayo Clinic College of Medicine and ScienceUnited States

Dr. Ethylin Wang Jabs is a distinguished Professor and Chair of the Department of Clinical Genomics at Mayo Clinic, with dual appointments as Adjunct Professor of Genetic Medicine and Professor of Pediatrics at Johns Hopkins University. Board certified in clinical genetics, cytogenetics, molecular genetics and genomics, and pediatrics, she has established herself as a leading expert in craniofacial disorders and dysmorphology of rare genetic conditions. Dr. Jabs' research focuses on identifying the genetic causes of craniofacial syndromes, particularly those involving homeobox genes, helix-loop-helix transcription factors, fibroblast growth factor receptors, and connexins. Her laboratory employs advanced genomic technologies combined with functional studies in animal models, organoids, and induced pluripotent stem cell systems to elucidate disease mechanisms and genotype-phenotype correlations. Her work bridges basic science discoveries with clinical applications to improve diagnosis and treatment of craniofacial anomalies. Among her notable recognitions are the 2025 Moebius Syndrome Foundation Lifetime Achievement Award and election to the Johns Hopkins Society of Scholars in 2014. She maintains active leadership roles in professional organizations including serving as Co-Chair of the ClinGen Craniofacial Malformations Gene Curation Expert Panel and as a member of the Cellular, Molecular, and Bispecific Therapies Steering Committee. Dr. Jabs has received continuous research funding throughout her career and has mentored numerous students and fellows in the field of medical genetics. She serves on advisory boards for several foundations including Smile Train, Moebius Syndrome Foundation, and Born a Hero Research Foundation, demonstrating her commitment to translating research into improved patient care for individuals with craniofacial differences. Her extensive publication record, including numerous high-impact papers in leading scientific journals, reflects her ongoing contributions to understanding the genetic basis of craniofacial development and disorders. Dr. Jabs continues to be at the forefront of applying genomic medicine to the diagnosis and management of complex craniofacial conditions.

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Ulrich BroeckelView profile

Professor

Medical College of WisconsinUnited States

Dr. Ulrich Broeckel is a Professor and Chief of the Division of Genomic Pediatrics at the Medical College of Wisconsin. He serves as Research Unit Leader for Genetics and Genomics at the Children's Research Institute and maintains membership in three major research centers: the Cancer Center, the Cardiovascular Research Center, and the Mellowes Center for Genomic Sciences and Precision Medicine. His extensive academic contributions span multiple disciplines within genomic medicine. Dr. Broeckel's research focuses on cardiovascular genomics, pharmacogenetics, and structural variant analysis. His work encompasses genome-wide association studies of cardiovascular traits, genetic factors in drug response, and the development of genomic reference materials. He investigates how genetic variation influences blood pressure regulation, coagulation factors, and drug-induced cardiotoxicity, with recent work utilizing hiPSC-derived cardiomyocytes for personalized medicine applications. His methodological expertise includes whole genome sequencing, GWAS, exome analysis, DNA copy number variation analysis, and high-throughput nucleotide sequencing. Analysis of Dr. Broeckel's recent publications (2023-2024) reveals three major thematic areas: 1) Development of pharmacogenomic reference materials (DPYD, CYP2D6, CYP3A4/5), 2) Cardiovascular genomics including polygenic risk scores for blood pressure response, and 3) Application of hiPSC-derived models for studying drug responses. His work consistently emphasizes practical applications of genomic discoveries with strong representation in high-impact collaborative studies through the TOPMed Consortium. Dr. Broeckel's research has significant translational impact, particularly in pharmacogenomics where his work directly informs clinical testing guidelines. His development of reference materials for genetic testing has practical applications in clinical laboratories. The work on polygenic risk scores for blood pressure response and cardiotoxicity prediction has direct implications for personalized medicine approaches in cardiology and oncology. Dr. Broeckel is deeply embedded in major national collaborative research networks, particularly the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. He has contributed to numerous multi-institutional projects including the GeT-RM Collaborative Project focused on pharmacogenetic reference materials. His authorship on papers with dozens of co-authors across multiple institutions demonstrates extensive national and international collaboration in large-scale genomic studies.

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