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1.
Ital J Pediatr ; 50(1): 143, 2024 Aug 07.
Artículo en Inglés | MEDLINE | ID: mdl-39113034

RESUMEN

BACKGROUND: John M. Opitz, a towering figure in both stature and scientific achievement, left an indelible mark on the fields of genetics, pediatrics, and embryology. Born in 1935 in Hamburg to a Jewish family, Opitz's early life was marked by adversities. Despite these challenges, he pursued a remarkable career, immigrating to the United States at 15 years and becoming a renowned scientist in institutions like Iowa State University and the University of Wisconsin, where he made groundbreaking contributions to clinical genetics. MAIN BODY: A testament to his compassionate nature, Opitz dedicated himself to understanding and treating rare genetic disorders, earning him eponymous recognition in several medical conditions. His impact extended beyond academia, as evidenced by his collaborative efforts with Sicilian universities to advance clinical genetics in Italy. Opitz's teaching style emphasized simplicity, empathy, and meticulous clinical examination, leaving an indelible mark on students and colleagues. CONCLUSION: John M. Opitz's towering intellect, compassionate demeanor, and profound impact on medicine and genetics made him a figure of enduring significance. His legacy lives on through the countless lives he touched, the knowledge he transmitted, and the enduring friendships he forged. In remembering John Opitz, we honor not only a man, but also a myth-a symbol of resilience, humanity, and scientific excellence.


Asunto(s)
Pediatría , Historia del Siglo XX , Humanos , Pediatría/historia , Estados Unidos , Genética Médica/historia , Embriología/historia , Historia del Siglo XXI , Italia
2.
J Surg Orthop Adv ; 33(2): 68-71, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38995059

RESUMEN

Victor McKusick, an iconic figure in medicine and considered the founding father of medical genetics, lived an exemplary life bound to inspire others. As a geneticist, McKusick was heavily involved in the Human Genome Project and the development of the widely used Online Mendelian Inheritance in Man. As a researcher and prolific writer, he published more than 700 research articles, reviews, and books. McKusick educated and inspired thousands of students, doctors, and scientists while performing landmark studies in hereditary disorders and skeletal dysplasias. This brief history describes the life of Dr. Victor McKusick and his tremendous impact on orthopaedic surgery. (Journal of Surgical Orthopaedic Advances 33(2):068-071, 2024).


Asunto(s)
Genética Médica , Ortopedia , Historia del Siglo XX , Ortopedia/historia , Genética Médica/historia , Humanos , Historia del Siglo XXI
3.
Am J Hum Genet ; 111(7): 1254-1257, 2024 07 11.
Artículo en Inglés | MEDLINE | ID: mdl-38996467

RESUMEN

Highlighting the Distinguished Speakers Symposium on "The Future of Human Genetics and Genomics," this collection of articles is based on presentations at the ASHG 2023 Annual Meeting in Washington, DC, in celebration of all our field has accomplished in the past 75 years, since the founding of ASHG in 1948.


Asunto(s)
Eugenesia , Humanos , Eugenesia/historia , Historia del Siglo XX , Genómica/historia , Genética Humana/historia , Genética Médica/historia
4.
Am J Med Genet A ; 194(6): e63272, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38687876
5.
FASEB J ; 36(10): e22565, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-36149010
6.
Am J Med Genet B Neuropsychiatr Genet ; 189(5): 119-127, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35779239

RESUMEN

This article examines the relationship between the early efforts of alienists to understand the role of heredity in the etiology of insanity in the 19th century and the parallel efforts of the nascent discipline of medical genetics. I review three monographs on general medical genetics: Adams in 1814, Steinau in 1843, and Lithgow in 1889. Numerous parallels were seen between their writings and those of their contemporary alienists working on mental disorders including (i) an emphasis on the transmission of the liability to illness rather than the illness itself, (ii) discussions of the homogeneous versus heterogeneous nature of familial transmission of disease, (iii) the relative value of direct versus indirect hereditary effects, (iv) the role of mothers versus fathers in transmitting liability, (v) possible environmental sources of familial clustering, and (vi) the transmission of age at onset of illness. All three medical genetic authors noted that insanity was among the more heritable of human disorders. Furthermore, Lithgow noted the importance of heritable influences on the non-psychotic forms of psychiatric illness rarely seen in asylums. This survey demonstrates substantial consilience in the topics of interest and conclusions of the nascent general medical and psychiatric genetics' communities in the 19th century.


Asunto(s)
Genética Médica , Herencia , Trastornos Mentales , Trastornos Psicóticos , Femenino , Genética Médica/historia , Historia del Siglo XX , Humanos , Trastornos Mentales/etiología , Madres , Trastornos Psicóticos/genética , Encuestas y Cuestionarios
7.
Am J Hum Genet ; 109(3): 379-380, 2022 03 03.
Artículo en Inglés | MEDLINE | ID: mdl-35245470

RESUMEN

Each year at the annual meeting of the American Society of Human Genetics (ASHG), addresses are given in honor of the Society and a number of award winners. A summary of each of these is provided below. On the following pages, we have printed the Presidential Address as well as the addresses for the William Allan Award, the Curt Stern Award, and the McKusick Leadership Award. Recordings of these addresses, as well as those of many other presentations, can be found at http://www.ashg.org.


Asunto(s)
Distinciones y Premios , Genética Médica , Genética Médica/historia , Humanos , Estados Unidos
9.
Am J Med Genet A ; 185(11): 3322-3333, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34532947

RESUMEN

Founder populations have long contributed to our knowledge of rare disease genes and phenotypes. From the pioneering work of Dr. Victor McKusick to today, research in these groups has shed light on rare recessive phenotypes, expanded the clinical spectrum of disease, and facilitated disease gene identification. Current clinical and research studies in these special groups augment the wealth of knowledge already gained, provide new insights into emerging problems such as variant interpretation and reduced penetrance, and contribute to the development of novel therapies for rare genetic diseases. Clinical developments over the past 30 years have altered the fundamental relationship with the Lancaster Plain communities: research has become more collaborative, and the knowledge imparted by these studies is now being harnessed to provide cutting-edge translational medicine to the very community of vulnerable individuals who need it most.


Asunto(s)
Enfermedades Genéticas Congénitas/historia , Predisposición Genética a la Enfermedad , Genética Médica/historia , Amish/genética , Efecto Fundador , Enfermedades Genéticas Congénitas/genética , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Pennsylvania/epidemiología , Ciencia Traslacional Biomédica/tendencias
10.
Am J Med Genet A ; 185(11): 3253-3258, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34498367

RESUMEN

Between 1988 and 2007, during the courses of the European School of Genetic Medicine, many of us had the opportunity to appreciate the tolerant and open-minded personality of Victor McKusick. He was gifted with a unique foresight for the innovations introduced into medicine through the development of the Human Genome Project. The aim of our separate contributions in this article is to document how his insights had an important impact on the European medical training system.


Asunto(s)
Genética Médica/historia , Proyecto Genoma Humano/historia , Europa (Continente) , Genética Médica/educación , Historia del Siglo XX , Historia del Siglo XXI , Humanos
11.
Am J Med Genet A ; 185(11): 3193-3201, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34463023

RESUMEN

Victor Almon McKusick (VAM) is widely recognized as the father of the field of medical genetics. He established one of the first medical genetics clinics in the United States at Johns Hopkins in 1957 and developed a robust training program with the tripartite mission of education, research, and clinical care. Thousands of clinicians and scientists were educated over the years through the Short Course in Medical and Molecular Genetics, which VAM founded with Dr. Thomas Roderick in 1960. His Online Mendelian Inheritance in Man (OMIM), a catalog of human genes and genetic disorders, serves as the authoritative reference for geneticists around the globe. Throughout his career he was an advocate for mapping the human genome. He collaborated with Dr. Frank Ruddle in founding the International Human Gene Mapping Workshops in the early 70's and was an avid proponent of the Human Genome Project. He was the founding President of the Human Genome Organization and a founding editor of the journal Genomics. His prodigious contributions to the field of medical genetics were recognized by multiple honors, culminating with the Japan Prize in 2008.


Asunto(s)
Bases de Datos Genéticas/historia , Genética Médica/historia , Genoma Humano/genética , Distinciones y Premios , Mapeo Cromosómico , Historia del Siglo XX , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Humanos , Estados Unidos
13.
FEBS J ; 288(15): 4439-4441, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34342144

RESUMEN

In this special interview series, we profile members of The FEBS Journal editorial board to highlight their research focus, perspectives on the journal and future directions in their field. Hyunsook Lee is Professor at the Laboratory of Cancer Cell Biology at Seoul National University in Korea. She has served as an editorial board member of The FEBS Journal since 2018.


Asunto(s)
Biología Celular/historia , Genética Médica/historia , Proteína BRCA1/genética , Historia del Siglo XX , Historia del Siglo XXI , República de Corea
14.
Am J Med Genet A ; 185(11): 3242-3252, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34402580

RESUMEN

The Short Course in Human and Mammalian Genetics and Genomics (aka the "Short Course" or the "Bar Harbor course") is one of Victor McKusick's landmark contributions to medical genetics. Conceived in 1959 as a way to increase the contribution of genetic advances to medicine, it has directly affected more than 7000 students and 600 participating faculty from around the world. Now, more than 10 years after his death, it continues to be a vibrant disseminator of genetics, and genomics knowledge for medicine, a catalytic agent for ongoing research and a source of collegiality in our field. What an extraordinary gift!


Asunto(s)
Genética Médica/historia , Genética Médica/educación , Historia del Siglo XX , Historia del Siglo XXI , Humanos
16.
Am J Med Genet A ; 185(11): 3377-3383, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34313375
18.
Am J Med Genet A ; 185(11): 3212-3223, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34159717

RESUMEN

Victor McKusick's contributions to the field of medical genetics are legendary and include his contributions as a mentor, as creator of Mendelian Inheritance in Man (now Online Mendelian Inheritance in Man [OMIM®]), and as a leader in the field of medical genetics. McKusick's full bibliography includes 772 publications. Here we review the 453 papers authored by McKusick and indexed in PubMed, from his earliest paper published in the New England Journal of Medicine in 1949 to his last paper published in American Journal of Medical Genetics Part A in 2008. This review of his bibliography chronicles McKusick's evolution from an internist and cardiologist with an interest in genetics to an esteemed leader in the growing field of medical genetics. Review of his bibliography also provides a historical perspective of the development of the discipline of medical genetics. This field came into its own during his lifetime, transitioning from the study of interesting cases and families used to codify basic medical genetics principles to an accredited medical specialty that is expected to transform healthcare. Along the way, he helped to unite the fields of medical and human genetics to focus on mapping the human genome, culminating in completion of the Human Genome Project. This review confirms the critical role played by Victor McKusick as the founding father of medical genetics.


Asunto(s)
Bases de Datos Genéticas/historia , Genética Médica/historia , Genoma Humano/genética , Historia del Siglo XX , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Humanos , Estados Unidos
19.
Am J Med Genet A ; 185(11): 3259-3265, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34169650

RESUMEN

Victor McKusick's many contributions to medicine are legendary, but his magnum opus is Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their associated genes. The catalog, originally published in 1966 in book form, became available on the internet as Online Mendelian Inheritance in Man (OMIM®) in 1987. The first of 12 editions of MIM included 1486 entries; this number has increased to over 25,000 entries in OMIM as of April 2021, which demonstrates the growth of knowledge about Mendelian phenotypes and their genes through the years. OMIM now has over 20,000 unique users a day, including users from every country in the world. Many of the early decisions made by McKusick, such as to maintain MIM data in a computer-readable format, to separate phenotype entries from those for genes, and to give phenotypes and genes MIM numbers, have proved essential to the long-term utility and flexibility of his catalog. Based on his extensive knowledge of genetics and vision of its future in the field of medicine, he developed a framework for the capture and summary of information from the published literature on phenotypes and their associated genes; this catalog continues to serve as an indispensable resource to the genetics community.


Asunto(s)
Bases de Datos Genéticas/historia , Genética Médica/historia , Mapeo Cromosómico , Historia del Siglo XX , Historia del Siglo XXI , Humanos
20.
Br J Hist Sci ; 54(2): 213-231, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34011428

RESUMEN

Mendelian Inheritance in Man (MIM), a computerized catalogue of human genetic disorders authored and maintained by cardiologist and medical genetics pioneer Victor A. McKusick, played a major part in demarcating between a novel biomedical science and the eugenic projects of racial betterment which existed prior to its emergence. Nonetheless, it built upon prior efforts to systematize genetic knowledge tied to individuals and institutions invested in eugenics. By unpacking the process of digitizing a homespun cataloguing project and charting its development into an online database, this article aims to illuminate how the institution-building efforts of one individual created an 'information order' for accessing genetic information that tacitly shaped the norms and priorities of the field toward the pursuit of specific genes associated with discernible genetic disorders. This was not by design, but rather arose through negotiation with the catalogue's users; it accommodated further changes as biomedical research displaced the Mendelian paradigm. While great effort was expended toward making sequence data available to investigators during the Human Genome Project, MIM was largely taken for granted as a 'legacy system', McKusick's own labour of love. Drawing on recent histories of biomedical data, the article suggests that the bibliographical work of curation and translation is a central feature of value production in the life sciences meriting attention in its own right.


Asunto(s)
Bases de Datos Genéticas/historia , Genética Médica/historia , Herencia , Edición/historia , Historia del Siglo XX , Historia del Siglo XXI , Humanos
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