Robert J. Desnick
Robert J. Desnick, Ph. D. M. D. D. Sc. is a human geneticist whose basic and translational research accomplishments include significant discoveries in genomics, gene therapy, personalized medicine, the treatment of genetic diseases. His translational research has led to the development of enzyme replacement therapy for Fabry disease and Niemann–Pick disease type B, he was the co-founder of Amicus Therapeutics, a biopharmaceutical company developing pharmacologic chaperone therapies, served as the Chairman of the Scientific Advisory Committee of Synageva BioPharma and serves as SAC Chair for Kiniksa Pharmaceuticals. Desnick is the Dean for Genetics and Genomics, Professor and Chairman Emeritus of the Department of Genetics & Genomic Sciences at The Icahn School of Medicine at Mount Sinai in New York City. Additionally, he is Professor of Pediatrics, Professor of Oncological Sciences, Professor of Obstetrics and Reproductive Science at The Mount Sinai Hospital. Desnick is the author of more than 600 peer-reviewed articles in scientific journals, 200 book chapters and is the editor of nine books.
He holds 13 patents and is included in Castle Connelly's lists of Best Doctors in America and Best Doctors in New York and New York Magazine’s list of the Best Doctors every year since the inception of the rating. He was elected to the Institute of Medicine in 2004. Desnick received his undergraduate degree from the University of Minnesota in 1965, he earned a Ph. D. in genetics from the University of Minnesota Graduate School in 1970 and his M. D. from the University of Minnesota Medical School in 1971. He completed an internship and a residency in pediatrics at the University of Minnesota Hospitals and joined the faculty at the University of Minnesota, where he rose to the rank of Associate Professor of Cell Biology and Genetics and Pediatrics. Desnick joined the staff at Mount Sinai Medical Center in 1977, as the Arthur J. and Nellie Z. Cohen Professor of Pediatrics and Genetics and Chief of the Division of Medical and Molecular Genetics in the Department of Pediatrics, he was the first Chairman of the newly created Department of Human Genetics in 1993, renamed the Department of Genetics & Genomic Sciences in 2006.
In 2009, he became Dean for Genetics & Genomics and Interim Director of the newly established Genomics Institute at Mount Sinai. He is Professor of Pediatrics, Oncological Sciences, Obstetrics and Reproductive Science and Cell Medicine and Professor and Chairman Emeritus of Genetics & Genomic Sciences. Desnick is an elected member of the Society for Pediatric Research, the American Pediatric Society, the American Society for Clinical Investigation, the Association of American Physicians, he is an elected Fellow of the American Association for the Advancement of Science, an elected member of the Institute of Medicine of the National Academy of Sciences. His research awards include the E. H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research and the Award for Excellence in Clinical Research from the National Center for Research Resources from the National Institutes of Health. Desnick is a past director of the American Board of Medical Genetics, a Founding Diplomat of the American College of Medical Genetics, a past member of the board of directors of the American College of Medical Genetics Foundation, a founder and past-president of the Association of Professors of Human and Medical Genetics.
He is past chair of the Association of American Medical Colleges, past member of the AAMC Board of Directors and past chair of the AAMC Council of Academic Societies. He lives in New York City with his wife, Julie Herzig Desnick, son, Jonathan Desnick. Julie is a LEED-certified, Registered Architect, he is a Trustee of the American School of Classical Studies in Athens. Partial list: U. S. Public Health Service Fellowship in Genetics, 1968–1970 Ross Award in Pediatric Research, 1972 C. J. Watson Award, University of Minnesota Medical School, 1973 NIH Research Career Development Award, 1975–1980 E. Mead Johnson Award for Research in Pediatrics of the American Academy of Pediatrics, 1981 Honorary Member, Japanese Society for Inherited Metabolic Diseases, Elected 1985 Correspondent Member, Societá Italiana di Pediatria, Elected 1991 Honorary Member, Societá Italiana di Pediatria, Elected 1999 Outstanding Faculty Award, Mount Sinai School of Medicine, 1991 NIH MERIT Award, 1992–2004 J. Lester Gabrilove Award for Medical Research, 2003 Jacobi Medal, Mount Sinai Alumni Association, 2004 Edward H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research, 2004 University of Minnesota Medical School Distinguished Alumni Award, 2004 Doctor of Science, Honoris Causa, Mount Sinai School of Medicine of New York University, 2004 Elected Senior Fellow, American Association for the Advancement of Science, 2004 Elected Member, Institute of Medicine of the National Academy of Sciences, 2004 Award for Excellence in Clinical Research from the National Center for Research Resources, NIH, 2005 Albion O. Bernstein, MD Award for Contributions in Disease Prevention from the New York State Medical Society, 2005 Distinguished Service Award, Association of American Medical Colleges, 2010 Faculty Council Senior Award, Mount Sinai School of Medicine, 2011 Lifetime Innovation & Achievement Award of the Lysosomal Disease Network, NIH, 2013 Genetic Disease Foundation Scientific Honoree for Contributions to Genetic Research and Genetic Medicine 2013 Inventor of the Year Award of the New York Intellectual Property Law Association, 2013 2017 Rare Impact Award, National Organization for R
Ashkenazi Jews known as Ashkenazic Jews or Ashkenazim, are a Jewish diaspora population who coalesced in the Holy Roman Empire around the end of the first millennium. The traditional diaspora language of Ashkenazi Jews is Yiddish, developed after they had moved into northern Europe: beginning with Germany and France in the Middle Ages. For centuries they used Hebrew only as a sacred language, until the revival of Hebrew as a common language in Israel. Throughout their time in Europe, Ashkenazim have made many important contributions to its philosophy, literature, art and science; the term "Ashkenazi" refers to Jewish settlers who established communities along the Rhine river in Western Germany and in Northern France dating to the Middle Ages. Once there, they adapted traditions carried from Babylon, the Holy Land, the Western Mediterranean to their new environment; the Ashkenazi religious rite developed in cities such as Mainz and Troyes. The eminent French Rishon rabbi Shlomo Itzhaki would have a significant influence on the Jewish religion.
In the late Middle Ages, due to religious persecution, the majority of the Ashkenazi population shifted eastward, moving out of the Holy Roman Empire into the areas part of the Polish–Lithuanian Commonwealth. In the course of the late 18th and 19th centuries, those Jews who remained in or returned to the German lands generated a cultural reorientation; the Holocaust of the Second World War decimated the Ashkenazim, affecting every Jewish family. It is estimated that in the 11th century Ashkenazi Jews composed three percent of the world's total Jewish population, while an estimate made in 1930 had them as 92 percent of the world's Jews. Prior to the Holocaust, the number of Jews in the world stood at 16.7 million. Statistical figures vary for the contemporary demography of Ashkenazi Jews, ranging from 10 million to 11.2 million. Sergio Della Pergola, in a rough calculation of Sephardic and Mizrahi Jews, implies that Ashkenazi Jews make up less than 74% of Jews worldwide. Other estimates place Ashkenazi Jews as making up about 75% of Jews worldwide.
Genetic studies on Ashkenazim—researching both their paternal and maternal lineages—suggest a predominant amount of shared Middle Eastern ancestry, complemented by varying percentages of European admixture. These studies have arrived at diverging conclusions regarding both the degree and the sources of their European ancestry, have focused on the extent of the European genetic origin observed in Ashkenazi maternal lineages. Ashkenazi Jews are popularly contrasted with Sephardi Jews, who descend from Jews who settled in the Iberian Peninsula, Mizrahi Jews, who descend from Jews who remained in the Middle East; the name Ashkenazi derives from the biblical figure of Ashkenaz, the first son of Gomer, son of Japhet, son of Noah, a Japhetic patriarch in the Table of Nations. The name of Gomer has been linked to the ethnonym Cimmerians. Biblical Ashkenaz is derived from Assyrian Aškūza, a people who expelled the Cimmerians from the Armenian area of the Upper Euphrates, whose name is associated with the name of the Scythians.
The intrusive n in the Biblical name is due to a scribal error confusing a vav ו with a nun נ. In Jeremiah 51:27, Ashkenaz figures as one of three kingdoms in the far north, the others being Minni and Ararat corresponding to Urartu, called on by God to resist Babylon. In the Yoma tractate of the Babylonian Talmud the name Gomer is rendered as Germania, which elsewhere in rabbinical literature was identified with Germanikia in northwestern Syria, but became associated with Germania. Ashkenaz is linked to Scandza/Scanzia, viewed as the cradle of Germanic tribes, as early as a 6th-century gloss to the Historia Ecclesiastica of Eusebius. In the 10th-century History of Armenia of Yovhannes Drasxanakertc'i Ashkenaz was associated with Armenia, as it was in Jewish usage, where its denotation extended at times to Adiabene, Khazaria and areas to the east, his contemporary Saadia Gaon identified Ashkenaz with the Saquliba or Slavic territories, such usage covered the lands of tribes neighboring the Slavs, Eastern and Central Europe.
In modern times, Samuel Krauss identified the Biblical "Ashkenaz" with Khazaria. Sometime in the Early Medieval period, the Jews of central and eastern Europe came to be called by this term. Conforming to the custom of designating areas of Jewish settlement with biblical names, Spain was denominated Sefarad, France was called Tsarefat, Bohemia was called the Land of Canaan. By the high medieval period, Talmudic commentators like Rashi began to use Ashkenaz/Eretz Ashkenaz to designate Germany, earlier known as Loter, where in the Rhineland communities of Speyer and Mainz, the most important Jewish communities arose. Rashi uses leshon Ashkenaz to describe German speech, Byzantium and Syrian Jewish letters referred to the Crusaders as Ashkenazim. Given the close links between the Jewish communities of France a
Enzymes are macromolecular biological catalysts. Enzymes accelerate chemical reactions; the molecules upon which enzymes may act are called substrates and the enzyme converts the substrates into different molecules known as products. All metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps; the study of enzymes is called enzymology and a new field of pseudoenzyme analysis has grown up, recognising that during evolution, some enzymes have lost the ability to carry out biological catalysis, reflected in their amino acid sequences and unusual'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Most enzymes are proteins; the latter are called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction rate by lowering its activation energy; some enzymes can make their conversion of substrate to product occur many millions of times faster.
An extreme example is orotidine 5'-phosphate decarboxylase, which allows a reaction that would otherwise take millions of years to occur in milliseconds. Chemically, enzymes are like any catalyst and are not consumed in chemical reactions, nor do they alter the equilibrium of a reaction. Enzymes differ from most other catalysts by being much more specific. Enzyme activity can be affected by other molecules: inhibitors are molecules that decrease enzyme activity, activators are molecules that increase activity. Many therapeutic drugs and poisons are enzyme inhibitors. An enzyme's activity decreases markedly outside its optimal temperature and pH, many enzymes are denatured when exposed to excessive heat, losing their structure and catalytic properties; some enzymes are used commercially, in the synthesis of antibiotics. Some household products use enzymes to speed up chemical reactions: enzymes in biological washing powders break down protein, starch or fat stains on clothes, enzymes in meat tenderizer break down proteins into smaller molecules, making the meat easier to chew.
By the late 17th and early 18th centuries, the digestion of meat by stomach secretions and the conversion of starch to sugars by plant extracts and saliva were known but the mechanisms by which these occurred had not been identified. French chemist Anselme Payen was the first to discover an enzyme, diastase, in 1833. A few decades when studying the fermentation of sugar to alcohol by yeast, Louis Pasteur concluded that this fermentation was caused by a vital force contained within the yeast cells called "ferments", which were thought to function only within living organisms, he wrote that "alcoholic fermentation is an act correlated with the life and organization of the yeast cells, not with the death or putrefaction of the cells."In 1877, German physiologist Wilhelm Kühne first used the term enzyme, which comes from Greek ἔνζυμον, "leavened" or "in yeast", to describe this process. The word enzyme was used to refer to nonliving substances such as pepsin, the word ferment was used to refer to chemical activity produced by living organisms.
Eduard Buchner submitted his first paper on the study of yeast extracts in 1897. In a series of experiments at the University of Berlin, he found that sugar was fermented by yeast extracts when there were no living yeast cells in the mixture, he named the enzyme that brought about the fermentation of sucrose "zymase". In 1907, he received the Nobel Prize in Chemistry for "his discovery of cell-free fermentation". Following Buchner's example, enzymes are named according to the reaction they carry out: the suffix -ase is combined with the name of the substrate or to the type of reaction; the biochemical identity of enzymes was still unknown in the early 1900s. Many scientists observed that enzymatic activity was associated with proteins, but others argued that proteins were carriers for the true enzymes and that proteins per se were incapable of catalysis. In 1926, James B. Sumner crystallized it; the conclusion that pure proteins can be enzymes was definitively demonstrated by John Howard Northrop and Wendell Meredith Stanley, who worked on the digestive enzymes pepsin and chymotrypsin.
These three scientists were awarded the 1946 Nobel Prize in Chemistry. The discovery that enzymes could be crystallized allowed their structures to be solved by x-ray crystallography; this was first done for lysozyme, an enzyme found in tears and egg whites that digests the coating of some bacteria. This high-resolution structure of lysozyme marked the beginning of the field of structural biology and the effort to understand how enzymes work at an atomic level of detail. An enzyme's name is derived from its substrate or the chemical reaction it catalyzes, with the word ending in -ase. Examples are alcohol dehydrogenase and DNA polymerase. Different enzymes that catalyze the same chemical reaction are called isozymes; the International Union of Biochemistry and Molecular Biology have developed a nomenclature for enzymes, the EC numbers. The first number broadly classifies the enzyme based on its mechanism; the top-level classification is: EC 1, Oxidoreductases: catalyze oxidation/reducti
University of California, San Diego
The University of California, San Diego is a public research university located in the La Jolla neighborhood of San Diego, California, in the United States. The university occupies 2,141 acres near the coast of the Pacific Ocean, with the main campus resting on 1,152 acres. Established in 1960 near the pre-existing Scripps Institution of Oceanography, UC San Diego is the seventh-oldest of the 10 University of California campuses and offers over 200 undergraduate and graduate degree programs, enrolling 30,000 undergraduate and 8,500 graduate students. UC San Diego is organized into six undergraduate residential colleges, five academic divisions, five graduate and professional schools. A proposed School of Public Health is in the planning stages. UC San Diego Health, the region's only academic health system, provides patient care, conducts medical research and educates future health care professionals at the UC San Diego Medical Center and Jacobs Medical Center; the university operates 19 organized research units, including the Center for Energy Research, Qualcomm Institute, San Diego Supercomputer Center and the Kavli Institute for Brain and Mind, as well as eight School of Medicine research units, six research centers at Scripps Institution of Oceanography and two multi-campus initiatives, including the Institute on Global Conflict and Cooperation.
UC San Diego is closely affiliated with several regional research centers, such as the Salk Institute, the Sanford Burnham Prebys Medical Discovery Institute, the Sanford Consortium for Regenerative Medicine and the Scripps Research Institute. According to the National Science Foundation, UC San Diego spent $1.133 billion on research and development in fiscal year 2017, ranking it 7th in the nation. As of August 2018, UC San Diego faculty and alumni have won 27 Nobel Prizes and 3 Fields Medals, eight National Medals of Science, eight MacArthur Fellowships, two Pulitzer Prizes. Additionally, of the current faculty, 29 have been elected to the National Academy of Engineering, 70 to the National Academy of Sciences, 45 to the Institute of Medicine and 110 to the American Academy of Arts and Sciences; when the Regents of the University of California authorized the San Diego campus in 1956, it was planned to be a graduate and research institution, providing instruction in the sciences and engineering.
Local citizens supported the idea, voting the same year to transfer to the university 59 acres of mesa land on the coast near the preexisting Scripps Institution of Oceanography. The Regents requested an additional gift of 550 acres of undeveloped mesa land northeast of Scripps, as well as 500 acres on the former site of Camp Matthews from the federal government, but Roger Revelle director of Scripps Institution and main advocate for establishing the new campus, jeopardized the site selection by exposing the La Jolla community's exclusive real estate business practices, which were antagonistic to minority racial and religious groups; this outraged local conservatives, as well as Regent Edwin W. Pauley. UC President Clark Kerr satisfied San Diego city donors by changing the proposed name from University of California, La Jolla, to University of California, San Diego; the city voted in agreement to its part in 1958, the UC approved construction of the new campus in 1960. Because of the clash with Pauley, Revelle was not made chancellor.
Herbert York, first director of Lawrence Livermore National Laboratory, was designated instead. York planned the main campus according to the "Oxbridge" model. UC San Diego was the first general campus of the University of California to be designed "from the top down" in terms of research emphasis. Local leaders disagreed on whether the new school should be a technical research institute or a more broadly based school that included undergraduates as well. John Jay Hopkins of General Dynamics Corporation pledged one million dollars for the former while the City Council offered free land for the latter; the original authorization for the San Diego campus given by the UC Regents in 1956 approved a "graduate program in science and technology" that included undergraduate programs, a compromise that won both the support of General Dynamics and the city voters' approval. Nobel laureate Harold Urey, a physicist from the University of Chicago, Hans Suess, who had published the first paper on the greenhouse effect with Revelle in the previous year, were early recruits to the faculty in 1958.
Maria Goeppert-Mayer the second female Nobel laureate in physics, was appointed professor of physics in 1960. The graduate division of the school opened in 1960 with 20 faculty in residence, with instruction offered in the fields of physics, biology and earth science. Before the main campus completed construction, classes were held in the Scripps Institution of Oceanography. By 1963, new facilities on the mesa had been finished for the School of Science and Engineering, new buildings were under construction for Social Sciences and Humanities. Ten additional faculty in those disciplines were hired, the whole site was designated the First College renamed after Roger Revelle, of the new campus. York resigned as chancellor that year a
National Institutes of Health
The National Institutes of Health is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1870s and is now part of the United States Department of Health and Human Services; the majority of NIH facilities are located in Maryland. The NIH conducts its own scientific research through its Intramural Research Program and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program; as of 2013, the IRP had 1,200 principal investigators and more than 4,000 postdoctoral fellows in basic and clinical research, being the largest biomedical research institution in the world, while, as of 2003, the extramural arm provided 28% of biomedical research funding spent annually in the U. S. or about US$26.4 billion. The NIH comprises 27 separate institutes and centers of different biomedical disciplines and is responsible for many scientific accomplishments, including the discovery of fluoride to prevent tooth decay, the use of lithium to manage bipolar disorder, the creation of vaccines against hepatitis, Haemophilus influenzae, human papillomavirus.
NIH's roots extend back to the Marine Hospital Service in the late 1790s that provided medical relief to sick and disabled men in the U. S. Navy. By 1870, a network of marine hospitals had developed and was placed under the charge of a medical officer within the Bureau of the Treasury Department. In the late 1870s, Congress allocated funds to investigate the causes of epidemics like cholera and yellow fever, it created the National Board of Health, making medical research an official government initiative. In 1887, a laboratory for the study of bacteria, the Hygienic Laboratory, was established at the Marine Hospital in New York. In the early 1900s, Congress began appropriating funds for the Marine Hospital Service. By 1922, this organization changed its name to Public Health Services and established a Special Cancer Investigations laboratory at Harvard Medical School; this marked the beginning of a partnership with universities. In 1930, the Hygienic Laboratory was re-designated as the National Institute of Health by the Ransdell Act, was given $750,000 to construct two NIH buildings.
Over the next few decades, Congress would increase funding tremendously to the NIH, various institutes and centers within the NIH were created for specific research programs. In 1944, the Public Health Service Act was approved, the National Cancer Institute became a division of NIH. In 1948, the name changed from National Institute of Health to National Institutes of Health. In the 1960s, virologist and cancer researcher Chester M. Southam injected HeLa cancer cells into patients at the Jewish Chronic Disease Hospital; when three doctors resigned after refusing to inject patients without their consent, the experiment gained considerable media attention. The NIH was a major source of funding for Southam's research and had required all research involving human subjects to obtain their consent prior to any experimentation. Upon investigating all of their grantee institutions, the NIH discovered that the majority of them did not protect the rights of human subjects. From on, the NIH has required all grantee institutions to approve any research proposals involving human experimentation with review boards.
In 1967, the Division of Regional Medical Programs was created to administer grants for research for heart disease and strokes. That same year, the NIH director lobbied the White House for increased federal funding in order to increase research and the speed with which health benefits could be brought to the people. An advisory committee was formed to oversee further development of the NIH and its research programs. By 1971 cancer research was in full force and President Nixon signed the National Cancer Act, initiating a National Cancer Program, President's Cancer Panel, National Cancer Advisory Board, 15 new research and demonstration centers. Funding for the NIH has been a source of contention in Congress, serving as a proxy for the political currents of the time. In 1992, the NIH encompassed nearly 1 percent of the federal government's operating budget and controlled more than 50 percent of all funding for health research, 85 percent of all funding for health studies in universities. While government funding for research in other disciplines has been increasing at a rate similar to inflation since the 1970s, research funding for the NIH nearly tripled through the 1990s and early 2000s, but has remained stagnant since then.
By the 1990s, the NIH committee focus had shifted to DNA research, launched the Human Genome Project. The NIH Office of the Director is the central office responsible for setting policy for NIH, for planning and coordinating the programs and activities of all NIH components; the NIH Director plays an active role in shaping outlook. The Director is responsible for providing leadership to the Institutes and Centers by identifying needs and opportunities in efforts involving multiple Institutes. Within this Office is the Division of Program Coordination and Strategic Initiatives with 12 divisions including: Office of AIDS Research Office of Research on Women's Health Office of Disease Prevention Sexual and Gender Minority Research Office Tribal Heath Research Office Office of Program Evaluation and PerformancePrevious directors: Joseph J. Kinyoun, served August 1887 – April 30, 1899 Milton J. Rosenau, served May 1, 1899 – September 30, 1909 John F. Anderson, served October 1, 1909 – November 19, 1915 George W. McCoy, served November 20, 1915 – January 31, 1937 Lewis R. Thompson, served February 1, 1937 – January 31, 1942 R