Victor Almon McKusick was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its use for studying congenital diseases. He is well known for his studies of the Amish. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man (MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM). He is widely known as the "father of medical genetics".
Leonard M. Miller School of Medicine (UMMSM) is the University of Miami's graduate medical school in Miami, Florida. Founded in 1952, it is the oldest medical school in the state of Florida.
Genomic convergence is a multifactor approach used in genetic research that combines different kinds of genetic data analysis to identify and prioritize susceptibility genes for a complex disease.
Harry Ostrer is a medical geneticist who investigates the genetic basis of common and rare disorders. In the diagnostic laboratory, he translates the findings of genetic discoveries into tests that can be used to identify people's risks for disease prior to occurrence, or for predicting its outcome once it has occurred. He is also known for his study, writing and lectures on the origins of the Jewish people.
Mary-Claire King is an American geneticist. She was the first to show that breast cancer can be inherited due to mutations in the gene she called BRCA1. She studies human genetics and is particularly interested in genetic heterogeneity and complex traits. She studies the interaction of genetics and environmental influences and their effects on human conditions such as breast and ovarian cancer, inherited deafness, schizophrenia, HIV, systemic lupus erythematosus and rheumatoid arthritis. She has been the American Cancer Society Professor of the Department of Genome Sciences and of Medical Genetics in the Department of Medicine at the University of Washington since 1995.
Charles Thomas Caskey, also known as C. Thomas Caskey, was an American internist who has been a medical Geneticist and biomedical researcher and entrepreneur. He was a Professor of Molecular and Human Genetics at Baylor College of Medicine, and served as editor of the Annual Review of Medicine from 2001 to 2019. He was a member of the editorial boards of the Proceedings of the National Academy of Sciences, Science, the Encyclopedia of Molecular Medicine and numerous other medical and scientific journals.
Sir John Anthony Hardy is a human geneticist and molecular biologist at the Reta Lila Weston Institute of Neurological Studies at University College London with research interests in neurological diseases.
John Peter Hussman, is an American philanthropist, economist, and hedge fund manager.
Aravinda Chakravarti is a human geneticist and expert in computational biology, and Director of the Center For Human Genetics & Genomics at New York University. He was the 2008 President of the American Society of Human Genetics. Chakravarti became a co-Editor-in-Chief of the journal Genome Research in 1995, and of the Annual Review of Genomics and Human Genetics' in 2005.
Huda Yahya Zoghbi, born Huda El-Hibri, is a Lebanese-born American geneticist, and a professor at the Departments of Molecular and Human Genetics, Neuroscience and Neurology at the Baylor College of Medicine. She is the director of the Jan and Dan Duncan Neurological Research Institute. She became the editor of the Annual Review of Neuroscience as of 2018.
Blood clots are a relatively common occurrence in the general population and are seen in approximately 1-2% of the population by age 60. Typically, blood clots develop in the deep veins of the lower extremities, deep vein thrombosis (DVT) or as a blood clot in the lung, pulmonary embolism. A very small number of people who develop blood clots have a more serious and often life-threatening condition, known as thrombotic storm (TS). TS is characterized by the development of more than one blood clot in a short period of time. These clots often occur in multiple and sometimes unusual locations in the body and are often difficult to treat. TS may be associated with an existing condition or situation that predisposes a person to blood clots, such as injury, infection, or pregnancy. In many cases, a risk assessment will identify interventions that will prevent the formation of blood clots.
Robert Williamson is a retired British-Australian molecular biologist who specialised in the mapping, gene identification, and diagnosis of human genetic disorders.
Charis Eng is a Singapore-born physician-scientist and geneticist at the Cleveland Clinic, notable for identifying the PTEN gene. She is the Chairwoman and founding Director of the Genomic Medicine Institute of the Cleveland Clinic, founding Director and attending clinical cancer geneticist of the institute’s clinical component, the Center for Personalized Genetic Healthcare, and Professor and Vice Chairwoman of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine.
Alison Mary Goate is a professor of neuroscience and Director of the Loeb Center for Alzheimer's Disease at Icahn School of Medicine at Mount Sinai, New York City. She was previously professor of genetics in psychiatry, professor of genetics, and professor of neurology at Washington University School of Medicine.
Leon Emanuel Rosenberg was an American physician-scientist, geneticist, and educator. He served as chair of the department of human genetics and also as dean of the medical school of Yale University. He then worked as the chief scientific officer of the Bristol-Myers Squibb Pharmaceutical company. He wrote more than 300 research articles, chapters, and books on his scientific research and public policy views across his career.
Barbara Ruben Migeon was an American geneticist who was a professor at the Johns Hopkins University Institute of Genetic Medicine. She founded the Johns Hopkins program in Human Genetics and Molecular Biology. Migeon is the author of Females are Mosaics: X inactivation and sex differences in disease. She was awarded the American College of Medical Genetics and Genomics Dimes/Colonel Harland D. Sanders Lifetime Achievement Award in 2016.
Susan Y. Bookheimer is a professor of clinical neuroscience at UCLA School of Medicine. She is best known for her work developing brain imaging techniques to help patients with Alzheimer’s disease, autism, attention deficit hyperactivity disorder, brain tumors, and epilepsy.
Janina M. Jeff is a US-based geneticist and a senior scientist at Illumina. She is specifically interested in identifying genetic variants that explain disease disparities across populations, as well as science communication. She was the first African American to earn a PhD in Human Genetics at Vanderbilt University.
Eric R. Gamazon is a statistical geneticist in Vanderbilt University, with faculty affiliations in the Division of Genetic Medicine, Data Science Institute, and Center for Precision Medicine. He is a Life Member of Clare Hall, Cambridge University after election to a Visiting Fellowship (2018).
Elaine H. Zackai is a Professor of Pediatrics, Director of Clinical Genetics, and the Director of the Clinical Genetics Center at Children's Hospital of Philadelphia (CHOP).
