It is established with a mission to conduct multidisciplinary research in genetic disorders and offer diagnostic services, management and counselling services to the afflicted and their families and work towards prevention.
The founder director was Prof. O. S. Reddi (1978-1988), followed by Prof. P. P. Reddy (1988-2004), Prof. M. P. J. S. Ananda Raj (2004-2005), Prof. A. Jyothi (2005-2016), Prof. Pratibha Nallari (2016 Feb 2017) and Prof. C. H. Gopal Reddy (Mar 2017-Aug 2017). Dr. A. Venkateshwari (I/C) is holding the position since 22 Aug 2017.
Departments
Cell Biology
Clinical Biochemistry
Clinical Genetics
Clinical Psychology and Special Education
Environmental Toxicology
Molecular Biology
Services
It offers training in Clinical, Human and Molecular Genetics to undergraduate and postgraduate students.
The Institute has till 2013 awarded 108 Ph.D. degrees, published more than 400 research papers and about 20 books.
About 125,000 cases have been enrolled in the Genetic registry and about 50,000 cases were offered genetic counseling till 2013.
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. This is then followed by seizures, hearing loss, and inability to move, with death usually occurring by the age of three to five. Less commonly, the disease may occur later in childhood, adolescence, or adulthood. These forms tend to be less severe, but the juvenile form typically results in death by age 15.
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:
The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) is one of the institutes and centers that make up the National Institutes of Health, an agency of the United States Department of Health and Human Services (HHS).
The University of Texas Southwestern Medical Center is a public academic health science center in Dallas, Texas. With approximately 23,000 employees, more than 3,000 full-time faculty, and nearly 4 million outpatient visits per year, UT Southwestern is the largest medical school in the University of Texas System and the State of Texas.
Louis Siminovitch was a Canadian molecular biologist. He was a pioneer in human genetics, researcher into the genetic basis of muscular dystrophy and cystic fibrosis, and helped establish Ontario programs exploring genetic roots of cancer.
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such.
The Institute of Psychiatry, Psychology & Neuroscience (IoPPN) is a leading centre for mental health and neuroscience research, education and training in Europe. It is dedicated to understanding, preventing and treating mental illness, neurological conditions, and other conditions that affect the brain. The IoPPN is a faculty of King's College London, England, and was previously known as the Institute of Psychiatry (IoP).
A biomedical scientist is a scientist trained in biology, particularly in the context of medical laboratory sciences or laboratory medicine. These scientists work to gain knowledge on the main principles of how the human body works and to find new ways to cure or treat disease by developing advanced diagnostic tools or new therapeutic strategies. The research of biomedical scientists is referred to as biomedical research.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Peter McGuffin was a Northern Irish psychiatrist and geneticist from Belfast.
Irving Isadore Gottesman was an American professor of psychology who devoted most of his career to the study of the genetics of schizophrenia. He wrote 17 books and more than 290 other publications, mostly on schizophrenia and behavioral genetics, and created the first academic program on behavioral genetics in the United States. He won awards such as the Hofheimer Prize for Research, the highest award from the American Psychiatric Association for psychiatric research. Lastly, Gottesman was a professor in the psychology department at the University of Minnesota, where he received his Ph.D.
Jay Tischfield is MacMillan Distinguished Professor and the Founding Chair of the Department of Genetics at Rutgers University. He is also Professor of Pediatrics and Psychiatry at Rutgers. He is currently Director of the Human Genetics Institute of New Jersey.
Nancy Wexler FRCP is an American geneticist and the Higgins Professor of Neuropsychology in the Departments of Neurology and Psychiatry of the Columbia University College of Physicians and Surgeons, best known for her involvement in the discovery of the location of the gene that causes Huntington's disease. She earned a Ph.D. in clinical psychology but instead chose to work in the field of genetics.
A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes or develop genetic technologies to aid in the pharmaceutical or and agriculture industries. Some geneticists perform experiments in model organisms such as Drosophila, C. elegans, zebrafish, rodents or humans and analyze data to interpret the inheritance of biological traits. A basic science geneticist is a scientist who usually has earned a PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a specialization and evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations; and provides genetic risk calculations and mutation analysis.
Maria Iandolo New is a professor of Pediatrics, Genomics and Genetics at Icahn School of Medicine at Mount Sinai in New York City. She is an expert in congenital adrenal hyperplasia (CAH), a genetic condition affecting the adrenal gland that can affect sexual development.
B K Thelma commonly known as Bittianda Kuttapa Thelma is a professor in the Department of Genetics at the University of Delhi, South Campus, New Delhi, India. She is the Principal investigator and Co-ordinator of the Centre of excellence on Genomes Sciences and Predictive Medicine funded by the Govt. of India. She is also the Co-ordinator of a major project on newborn screening for inborn errors of metabolism in Delhi state which aims to demonstrate the feasibility of mandatory screening of newborns in the country and to generate epidemiological data for the testable IEMs in the genetically distinct Indian population, for the first time.
Wendy K. Chung is an American clinical and molecular geneticist and physician. She is the Chair of the Department of Pediatrics at Boston Children's Hospital and is on the faculty at Harvard Medical School. She is the author of 700 peer-reviewed articles and 75 chapters and has won several awards as a physician, researcher, and professor. Chung helped to initiate a new form of newborn screening for spinal muscular atrophy which is used nationally and was among the plaintiffs in the Supreme Court case which banned gene patenting.
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.
Andre Franke, born on 16 October 1978, is a geneticist, academic, and university professor. He is a Full W3 Professor of Molecular Medicine at the Christian-Albrechts-University of Kiel, and a managing director at the Institute of Clinical Molecular Biology.
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