Anthony P. Monaco (born October 10, 1959) is an American geneticist and academic administrator recognized for his pioneering research in identifying genes underlying neurodevelopmental disorders, most notably the Duchenne muscular dystrophy (DMD) gene, and for leading Tufts University as its 13th president from 2011 to 2023.[1][2][3][4] His work has advanced understanding of conditions like autism, dyslexia, and specific language impairment, contributing to the Human Genome Project's early phases through innovative cloning techniques and chromosome mapping.[2][5] Currently serving as University Professor and President Emeritus at Tufts, Monaco continues research as a Simons Foundation Autism Research Initiative (SFARI) Investigator; his current research at Tufts, as of 2025, focuses on the genetic basis of neurodevelopmental disorders, including the role of RNA in linking conditions like autism and ADHD, while also informing the genetics of cognitive evolution.[2][6][5]Monaco earned an A.B. in neuroscience and behavior from Princeton University in 1981, followed by a Ph.D. in neuroscience from Harvard University in 1987 and an M.D. from Harvard Medical School in 1988.[5] His doctoral research under Louis M. Kunkel at Harvard led to the landmark 1986 isolation of candidate cDNAs for the DMD gene on the X chromosome, a breakthrough that enabled full cloning of the gene and identification of its protein product, dystrophin, revolutionizing diagnosis and treatment for Duchenne and Becker muscular dystrophies.[4][2] This discovery, published in Nature, marked one of the first major successes in positional cloning and contributed to the development of exon-skipping therapies, including the first FDA-approved treatment for Duchenne muscular dystrophy.[4][2][7]After completing a postdoctoral fellowship at Harvard, Monaco joined the University of Oxford in 1989, where he spent over two decades building a distinguished research career at the Wellcome Trust Centre for Human Genetics, which he directed from 1998 to 2007.[8][5][9] There, he expanded the center's staff twofold, oversaw its relocation to the Henry Wellcome Building of Genomic Medicine in 1999, and led studies mapping susceptibility genes for dyslexia (including loci on chromosomes 6, 15, and 18) and other cognitive disorders.[8][2] His lab's work on the DYX1C1 gene and genome-wide association studies has informed genetic models of reading ability and neurodevelopmental risks.[2][10] In administrative roles, he served as Professor of Human Genetics before becoming Pro-Vice-Chancellor for Planning and Resources from 2007 to 2011, where he shaped Oxford's academic, capital, and financial strategies.[11][2]As president of Tufts University, Monaco guided the institution through significant growth, including the 2016 acquisition of the School of the Museum of Fine Arts at Tufts, enhanced financial aid initiatives to promote access, and expanded commitments to diversity, inclusion, mental health support, and sustainability.[3][5] Under his leadership, Tufts strengthened its research profile and global engagement, culminating in the Brighter World campaign.[3] He stepped down in June 2023 to return to full-time research and teaching as University Professor of Biology.[3][2] Monaco's contributions have earned him election to the American Academy of Arts and Sciences in 2018.[2]
Early life and education
Early life
Anthony P. Monaco was born in Wilmington, Delaware, where he grew up as the son of a plumber and became the first in his family to attend college.[12] His upbringing in this mid-Atlantic city shaped his formative years, reflecting a classic American story of aspiration amid modest roots.[11]Monaco attended Salesianum School, a Catholic all-boys institution in Wilmington, graduating in 1977.[13] These experiences laid the groundwork for his later academic pursuits, leading him to enroll at Princeton University.[12]
Education
Monaco earned a Bachelor of Arts degree in neuroscience and behavior from Princeton University in 1981.[5] During his undergraduate years, he served as the goalie for the Princeton University water polo team, contributing to the program's competitive efforts.[14]He pursued advanced training through Harvard's Medical Scientist Training Program, receiving a Ph.D. in neuroscience from Harvard University in 1987.[5] The following year, in 1988, he obtained his Doctor of Medicine from Harvard Medical School.[5]Following his graduate studies, Monaco completed a postdoctoral fellowship from 1988 to 1990 at the Imperial Cancer Research Fund in London, under the supervision of Hans Lehrach.[1] There, he focused on genetic research as part of the Human Genome Project, bridging his neurobiology background with molecular genetics to lay the foundation for his subsequent scientific career.[14]
Scientific career
Early research contributions
Following his completion of an MD degree at Harvard Medical School in 1988, Anthony Monaco transitioned from clinical training in medicine to full-time research in human genetics, building on his PhD in neurobiology that had already immersed him in molecular approaches to neurological disorders. This shift was influenced by his doctoral work under Louis Kunkel at Harvard, where he applied emerging genetic mapping techniques to X-linked diseases, marking a pivotal move away from patient care toward laboratory-based discovery of disease-causing genes.[15]Monaco's most significant early contribution was his role in the discovery of the dystrophin gene, responsible for Duchenne muscular dystrophy (DMD) and the milder Becker muscular dystrophy (BMD), both X-linked disorders affecting muscle function. As a graduate student, he led efforts to isolate candidate cDNA sequences from the Xp21 region using positional cloning, a method that relied on genetic linkage data from patient deletions to "walk" along the chromosome with probes like DXS164 (pERT87). In a landmark 1986 study, Monaco and colleagues sequenced conserved DNA fragments homologous between human and mouse, identifying a large transcript in fetal skeletal muscle that spanned over 130 kb of genomic DNA; this work isolated partial cDNAs covering about 10% of the gene, confirming its location within the DMD/BMD critical region. Subsequent analysis in 1987 revealed the full 14 kb cDNA and predicted a 427 kDa protein product, dystrophin, absent or altered in affected individuals, establishing it as a cytoskeletal component essential for muscle integrity. These findings, achieved through techniques like Southern blotting, chromosome hybrid mapping, and cross-species hybridization, represented one of the first successful applications of positional cloning to a human disease gene without prior knowledge of the protein.[4]In 1989, shortly after his training, Monaco relocated to London as a fellow at the Imperial Cancer Research Fund (now Cancer Research UK), where he contributed to the nascent Human Genome Project by developing and distributing yeast artificial chromosome (YAC) libraries for large-scale genomic mapping. These YACs, capable of cloning megabase-sized DNA fragments, facilitated physical mapping of the human genome, particularly for complex regions like those harboring X-linked genes; Monaco's group co-chaired discussions at the 1991 International Workshop on Human Gene Mapping in London, emphasizing standardized protocols for YAC use across international labs to accelerate the project's early phases. This work extended his positional cloning expertise to broader genome efforts, enabling finer resolution of genetic loci for disorders including those on the X chromosome.[16]
Research at Oxford
During his tenure at the University of Oxford, Anthony Monaco directed the Wellcome Trust Centre for Human Genetics from 1998 to 2007, where he expanded the center's research into the genetic basis of complex diseases, doubling its staff and overseeing its relocation to the Henry Wellcome Building of Genomic Medicine in 1999.[8][17] As head of the Neurogenetics Group within the center, Monaco shifted focus toward neurodevelopmental disorders, leveraging positional cloning and linkage analysis to map susceptibility genes.[11] This built on his earlier isolation of the Duchenne muscular dystrophy gene during his PhD, serving as a foundation for broader investigations in neurogenetics.[18]A landmark achievement was Monaco's leadership in identifying the FOXP2 gene as the first linked to a heritable speech and language disorder, reported in 2001 through studies of the KE family, where a point mutation in FOXP2 caused severe verbal dyspraxia and broader linguistic impairments. The gene encodes a transcription factor crucial for neural development in speech-related brain regions, marking a pivotal advance in understanding monogenic contributions to human communication. This discovery, stemming from mid-1990s linkage studies refined into the early 2000s, highlighted FOXP2's evolutionary conservation and role in orofacial motor control.[19]Monaco's group advanced genetic mapping for neurodevelopmental disorders, including autism spectrum disorder (ASD) and dyslexia, by conducting large-scale genome scans to identify risk loci. For instance, through the International Molecular Genetic Study of Autism Consortium (IMGSAC), his team contributed to the largest autism linkage analysis reported in 2007, implicating chromosomal regions like 15q11-13 and revealing copy number variations as key contributors to ASD susceptibility. Similar efforts mapped dyslexia susceptibility loci on chromosomes 6 and 15, including identification of the DYX1C1 gene on chromosome 15, emphasizing polygenic influences on reading and language processing.[20][21] These studies prioritized conceptual insights into gene-environment interactions over exhaustive metrics, establishing genetic heterogeneity in neurodevelopmental conditions.[22]Monaco fostered international collaborations extending the Human Genome Project's legacy, notably leading Phase 2 of the Autism Genome Project (AGP) starting in 2007, which integrated expanded datasets including over 1,200 families from multiple countries to accelerate ASD gene discovery using high-density single nucleotide polymorphism arrays.[23] Funded by agencies including the Wellcome Trust and Autism Speaks, this effort built on HGP sequencing resources to enable genome-wide association studies, yielding foundational datasets for subsequent neurogenetics research.[24]
Administrative career
Roles at the University of Oxford
Anthony P. Monaco was appointed Professor of Human Genetics in the Faculty of Clinical Medicine at the University of Oxford in 1997, where he contributed to advancing genetic research within the institution.[25] In 1998, he assumed the directorship of the Wellcome Trust Centre for Human Genetics, succeeding Mark Lathrop, and led the centre until 2007.[9] Under his leadership, the centre expanded its focus on the biological basis of disease, particularly in neurogenetics, and grew into the largest externally funded, university-based research center in the UK, enhancing infrastructure for large-scale genetic studies.[8][11]As director, Monaco oversaw the development of key academic initiatives in genomics and neuroscience, including the establishment of the Neurodevelopmental and Neurological Disorders Group, which investigated genetic factors underlying conditions such as autism and dyslexia.[26] His administrative oversight at the centre tied into broader researchleadership, supporting the mentorship of early-career scientists and the expansion of collaborative genetic research facilities through strategic resource allocation.[8]In 2007, Monaco was appointed Pro-Vice-Chancellor for Planning and Resources, a senior leadership role he held until 2011.[9] In this capacity, he managed strategic planning for the university's research priorities and international programs, broadening access to Oxford's resources for global scholars and securing funding for interdisciplinary initiatives.[12][11] He played a pivotal role in fostering cross-disciplinary collaborations, particularly in genomics and neuroscience, while enhancing the university's research infrastructure and international partnerships.[27]
Presidency of Tufts University
Anthony P. Monaco was appointed as the 13th president of Tufts University on August 1, 2011, succeeding Lawrence S. Bacow after serving as pro-vice-chancellor for planning and resources at the University of Oxford.[11][28] During his 12-year tenure, Monaco drew on his Oxford experience in resource management to guide Tufts through strategic growth in a U.S. private university context. He announced his resignation on February 14, 2022, effective June 30, 2023, to return to full-time genetic research.[3]Monaco spearheaded the "Tufts: The Next 10 Years" (T10) strategic plan launched in October 2012, which outlined goals for academic excellence, interdisciplinary research, and financial sustainability through 2023.[29][30] This included enhancements to academic programs, such as the introduction of the Tufts 1+4 program in 2014 for a pre-college global service year and the establishment of University College in 2018 for lifelong learning initiatives. Capital improvements under the plan featured a $250 million investment in facilities, including the Science and Engineering Complex opened in 2017 to foster interdisciplinary collaboration. Budgeting efforts emphasized efficiency via the Tufts Effectiveness in Administrative Management (TEAM) program and revenue growth, culminating in the Brighter World campaign launched in 2017, which raised over $1.5 billion by 2023—the largest in Tufts' history—for scholarships, faculty support, and infrastructure.[29][30][31]Research expansion, particularly in health sciences, was a cornerstone of Monaco's leadership, with initiatives like the Tufts Innovation Institute promoting work on microbes, environment, and human health through computational and interdisciplinary approaches.[30] The 2018 opening of Tufts Launchpad | BioLabs in Boston supported over 20 life sciences startups, while Tufts joined the Association of American Universities in 2021, affirming its research stature. Global initiatives grew through coordinated programs abroad and partnerships, including the 2021 USAID STOP Spillover project across 10 countries to prevent pandemics and the 2014 American Campuses Act on Climate Pledge.[29][29]Monaco addressed institutional challenges, including enrollment and funding pressures, by boosting diversity— the Class of 2026 featured 48% students of color from a record 34,880 applicants—and investing over $50 million from 2020 to 2025 in anti-racism efforts, alongside COVID-19 responses like school testing partnerships in Medford and Somerville.[29] He was succeeded on July 1, 2023, by Sunil Kumar, provost of Johns Hopkins University, who became Tufts' 14th and first president of color.[32]
Later career and honors
Post-presidency activities
Following his tenure as president of Tufts University, which concluded on June 30, 2023, Anthony P. Monaco was appointed University Professor and President Emeritus, effective July 1, 2023, allowing him to leverage his administrative legacy in a continued academic capacity.[33] In this role, he has shifted his primary focus back to scientific research, particularly in the genetics of mental health disorders such as autism and other neurodevelopmental conditions.[34] As a Simons Foundation Autism Research Initiative (SFARI) Investigator, Monaco investigates genetic factors underlying these disorders, building on his prior expertise in human genetics.[6]Monaco maintains an active faculty appointment in the Department of Biology at Tufts University, where he contributes to teaching and research initiatives aligned with his interests in neurogenetics.[5] His post-presidency work emphasizes collaborative studies on RNA's role in linking genetic variants to conditions like autism and attention deficit hyperactivity disorder, aiming to advance understanding of their molecular mechanisms.[34] This return to research underscores his commitment to addressing unmet needs in mental healthgenomics.[9]
Awards and recognitions
Anthony P. Monaco has been recognized for his groundbreaking contributions to human genetics, particularly in identifying key genes associated with neurodevelopmental and neuromuscular disorders, as well as for his leadership in advancing university research and civic engagement.In 2018, Monaco was elected as a fellow of the American Academy of Arts and Sciences, honoring his pioneering role in positional cloning techniques and the discovery of the dystrophin gene, which underlies Duchenne and Becker muscular dystrophy and paved the way for the only approved drug treatment for the condition.[35] Similarly, Monaco's leadership of the team that identified the FOXP2 gene—the first gene linked specifically to speech and language development—has been acknowledged as a major advance in understanding cognitive evolution and disorders like verbal dyspraxia.[36]Monaco holds the status of SFARI Investigator from the Simons Foundation Autism Research Initiative, recognizing his extensive research on the genetic basis of autism spectrum disorders, including genome-wide association studies and family-based analyses that have implicated novel loci such as PTCHD1 and GBE1.[6]In his administrative roles, Monaco received the Karabi and Stephen A. Friedman Challenge Award for Civic Engagement on behalf of Tufts University in 2015 from the New England Resource Center for Higher Education, celebrating the institution's integration of community service into academic life under his presidency.[37] Additionally, in 2023, Tufts received an inaugural scholarship from the HBC Foundation to join the JED Campus program, recognizing Monaco's strategic initiatives to prioritize student mental health support and research.[34]