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Rima Rozen | |
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| Alma mater | Yale University McGill University |
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| Institutions | McGill University |
Rima Rozen is a Canadian geneticist who is a professor at McGill University. [1] Her current research focuses on genetic and nutritional deficiencies in folate metabolism and their impact on complex traits. [2]
Rozen received her PhD from McGill University (Montreal, Canada) and completed postdoctoral training at McGill University and Yale University. [3]
Rozen became an assistant professor in the Human Genetics and Pediatrics Departments at McGill in 1984, and set up her research program on genetics and metabolic disease. In 1985, Rozen established the Molecular Genetics Diagnosis Service at the McGill-Montreal Children's Hospital, the first accredited molecular diagnosis service in Quebec, and continued to direct this service until 2002. In 1990, she became a Fellow of the Canadian College of Medical Geneticists, certified in molecular genetics. From 1999 to 2007, Rozen served as scientific director of the Montreal Children's Hospital and deputy scientific director of the McGill University Health Centre. [4] She was also associate vice-principal (research and international relations) at McGill University from 2007 to 2013. During this time she continued to also work on her research interests. [4]
Currently, Rozen is a James McGill Professor of Human Genetics and Pediatrics. [4] In addition, she sits on the advisory board for the Institute of Genetics of the Canadian Institutes of Health Research (CIHR). [5]
Rozen has published over 350 papers, which have been cited over 34,400 times, resulting in an h-index and i10-index of 76 and 199 respectively. [6] She has received several awards for her research, including the Prix d'Excellence for pediatric research from the Inter-Service Clubs Council of Quebec, the Prix Léo-Pariseau from the association canadienne-francaise pour l'avancement des sciences, and the CIHR Senior Scientist Award. Rozen served as an expert panelist in the Council of Canadian Academies' Strengthening Canada's Research Capacity: The Gender Dimension report. [3] [7]
The McGill University Health Centre is one of two major healthcare networks in the city of Montreal, Quebec. It is affiliated with McGill University and is one of the largest medical complex in Montreal. It is the largest hospital system in Canada by bed capacity. The majority of its funding comes from Quebec taxpayers through the Ministry of Health and Social Services. The centre provides inpatient and ambulatory care.
Methylenetetrahydrofolatereductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Natural variation in this gene is common in otherwise healthy people. Although some variants have been reported to influence susceptibility to occlusive vascular disease, neural tube defects, Alzheimer's disease and other forms of dementia, colon cancer, and acute leukemia, findings from small early studies have not been reproduced. Some mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. Complex I deficiency with recessive spastic paraparesis has also been linked to MTHFR variants. In addition, the aberrant promoter hypermethylation of this gene is associated with male infertility and recurrent spontaneous abortion.
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.
The Canadian Institutes of Health Research is a federal agency responsible for funding health and medical research in Canada. Comprising 13 institutes, it is the successor to the Medical Research Council of Canada.
Methionine synthase also known as MS, MeSe, MTR is responsible for the regeneration of methionine from homocysteine. In humans it is encoded by the MTR gene (5-methyltetrahydrofolate-homocysteine methyltransferase). Methionine synthase forms part of the S-adenosylmethionine (SAMe) biosynthesis and regeneration cycle, and is the enzyme responsible for linking the cycle to one-carbon metabolism via the folate cycle. There are two primary forms of this enzyme, the Vitamin B12 (cobalamin)-dependent (MetH) and independent (MetE) forms, although minimal core methionine synthases that do not fit cleanly into either category have also been described in some anaerobic bacteria. The two dominant forms of the enzymes appear to be evolutionary independent and rely on considerably different chemical mechanisms. Mammals and other higher eukaryotes express only the cobalamin-dependent form. In contrast, the distribution of the two forms in Archaeplastida (plants and algae) is more complex. Plants exclusively possess the cobalamin-independent form, while algae have either one of the two, depending on species. Many different microorganisms express both the cobalamin-dependent and cobalamin-independent forms.
The Faculty of Medicine and Health Sciences is one of the constituent faculties of McGill University. It was established in 1829 after the Montreal Medical Institution was incorporated into McGill College as the college's first faculty; it was the first medical faculty to be established in Canada. The Faculty awarded McGill's first degree, and Canada's first medical degree to William Leslie Logie in 1833.
Montreal Children's Hospital is a children's hospital in Montreal, Quebec, Canada. Founded in 1904, it is affiliated with the McGill University Health Centre (MUHC) and McGill University, Faculty of Medicine.
Levomefolic acid (INN, also known as L-5-MTHF, L-methylfolate and L-5-methyltetrahydrofolate and (6S)-5-methyltetrahydrofolate, and (6S)-5-MTHF) is the primary biologically active form of folate used at the cellular level for DNA reproduction, the cysteine cycle and the regulation of homocysteine. It is also the form found in circulation and transported across membranes into tissues and across the blood–brain barrier. In the cell, L-methylfolate is used in the methylation of homocysteine to form methionine and tetrahydrofolate (THF). THF is the immediate acceptor of one carbon unit for the synthesis of thymidine-DNA, purines (RNA and DNA) and methionine. The un-methylated form, folic acid (vitamin B9), is a synthetic form of folate, and must undergo enzymatic reduction by dihydrofolate reductase (DHFR) to become biologically active.
Thomas Douglas Kinsella, CM was a Canadian medical doctor and expert on medical ethics and founder of Canada's National Council on Ethics in Human Research.
The Léo-Pariseau Prize is a Québécois prize which is awarded annually to a distinguished individual working in the field of biological or health sciences. The prize is awarded by the Association francophone pour le savoir (Acfas), and is named after Léo Pariseau, the first president of Acfas.
Methionine synthase reductase, also known as MSR, is an enzyme that in humans is encoded by the MTRR gene.
MTHFD1 is a gene located in humans on chromosome 14 that encodes for a protein with three distinct enzymatic activities. C-1-tetrahydrofolate synthase, cytoplasmic also known as C1-THF synthase is an enzyme that in humans is encoded by the MTHFD1 gene.
Alan Bernstein is Professor Emeritus at the University of Toronto and President Emeritus of CIFAR, where he served as President and CEO from 2012 to 2022. A Distinguished Fellow at the Munk School of Global Affairs and Public Policy, he is also a Fellow and Member of the Standing Committee for Science Planning at the International Science Council (2022-2025). Bernstein is recognized as a leader in health research, science policy, mentorship and organizational leadership.
Judes Poirier is Canadian-born professor of Medicine and Psychiatry at McGill University and former director of the Centre for Studies in Aging at McGill University. He currently serves as director of the Molecular Neurobiology Unit at the Douglas Institute Research Centre and, co-founder and associate director of the Centre for the Studies on the Prevention of Alzheimer's disease at McGill University.
Autism spectrum disorder (ASD) refers to a variety of conditions typically identified by challenges with social skills, communication, speech, and repetitive sensory-motor behaviors. The 11th International Classification of Diseases (ICD-11), released in January 2021, characterizes ASD by the associated deficits in the ability to initiate and sustain two-way social communication and restricted or repetitive behavior unusual for the individual's age or situation. Although linked with early childhood, the symptoms can appear later as well. Symptoms can be detected before the age of two and experienced practitioners can give a reliable diagnosis by that age. However, official diagnosis may not occur until much older, even well into adulthood. There is a large degree of variation in how much support a person with ASD needs in day-to-day life. This can be classified by a further diagnosis of ASD level 1, level 2, or level 3. Of these, ASD level 3 describes people requiring very substantial support and who experience more severe symptoms. ASD-related deficits in nonverbal and verbal social skills can result in impediments in personal, family, social, educational, and occupational situations. This disorder tends to have a strong correlation with genetics along with other factors. More research is identifying ways in which epigenetics is linked to autism. Epigenetics generally refers to the ways in which chromatin structure is altered to affect gene expression. Mechanisms such as cytosine regulation and post-translational modifications of histones. Of the 215 genes contributing, to some extent in ASD, 42 have been found to be involved in epigenetic modification of gene expression. Some examples of ASD signs are specific or repeated behaviors, enhanced sensitivity to materials, being upset by changes in routine, appearing to show reduced interest in others, avoiding eye contact and limitations in social situations, as well as verbal communication. When social interaction becomes more important, some whose condition might have been overlooked suffer social and other exclusion and are more likely to have coexisting mental and physical conditions. Long-term problems include difficulties in daily living such as managing schedules, hypersensitivities, initiating and sustaining relationships, and maintaining jobs.
David Rosenblatt is a Canadian medical geneticist, pediatrician, and professor in the departments of Human Genetics, Medicine, Pediatrics, and Biology at McGill University in Montreal, Quebec, where he was the chairman of the Department of Human Genetics from 2001 to 2013. He is known for his contributions to the field of inborn errors of folate and vitamin B12 metabolism.
Rowena Green Matthews, born in 1938, is the G. Robert Greenberg Distinguished University professor emeritus at the University of Michigan, Ann Arbor. Her research focuses on the role of organic cofactors as partners of enzymes catalyzing difficult biochemical reactions, especially folic acid and cobalamin. Among other honors, she was elected to the National Academy of Sciences in 2002 and the Institute of Medicine in 2004.
Rhian M. Touyz Koppel MBBCh, MSc (Med), PhD, FRCP, FRSE, FMedSci, FCAHS is a Canadian medical researcher. She is currently serving as the Executive Director and Chief Scientific Officer of the Research Institute of the McGill University Health Centre in Montreal, Canada, since 2021. A clinician scientist, her research primarily focuses on hypertension and cardiovascular disease.
Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle.
Hans H. Zingg is a Professor Emeritus in the Department of Pharmacology and Therapeutics and Wyeth-Ayerst Chair in Women's Health at McGill University in Montreal, Quebec, Canada.
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