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Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes. The long chain fatty acid buildup causes damage to the myelin sheath of the neurons of the brain, resulting in seizures and hyperactivity. Other symptoms include problems in speaking, listening, and understanding verbal instructions.
Lorenzo’s oil is liquid solution, made of 4 parts glycerol trioleate and 1 part glycerol trierucate, which are the triacylglycerol forms of oleic acid and erucic acid. It is prepared from olive oil and rapeseed oil. It is used in the investigational treatment of asymptomatic patients with adrenoleukodystrophy (ALD), a nervous system disorder.
Lorenzo's Oil is a 1992 American drama film directed and co-written by George Miller. It is based on the true story of Augusto and Michaela Odone, parents who search for a cure for their son Lorenzo's adrenoleukodystrophy (ALD), leading to the development of Lorenzo's oil. The film was shot in Pittsburgh, Pennsylvania, primarily from September 1991 to February 1992. It had a limited release in North America on December 30, 1992, with a nationwide release two weeks later, on January 15, 1993. Though it was a box office disappointment, grossing $7.2 million against its $30 million budget, the film was generally well received by the critics and garnered two nominations at the 65th Academy Awards.
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies. Zellweger syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the University of Iowa who researched this disorder.
Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the glial cells which produce the myelin sheath, the fatty insulating covering around nerve fibers. Leukodystrophies may be classified as hypomyelinating or demyelinating diseases, respectively, depending on whether the damage is present before birth or occurs after. Other demyelinating diseases are usually not congenital and have a toxic or autoimmune cause.
ABCD1 is a protein that transfers fatty acids into peroxisomes.
Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.
Hugo Wolfgang Moser (1924–2007) was a Swiss-born American research scientist and director of the Neurogenetics Research Center at the Kennedy Krieger Institute. Moser was also University Professor of Neurology and Pediatrics at Johns Hopkins University. His research on peroxisomal disorders achieved international recognition.
A very-long-chain fatty acid (VLCFA) is a fatty acid with 22 or more carbons. Their biosynthesis occurs in the endoplasmic reticulum. VLCFA's can represent up to a few percent of the total fatty acid content of a cell.
The Kennedy Krieger Institute is a nonprofit, 501(c)(3) tax-exempt, Johns Hopkins affiliate located in Baltimore, Maryland, that provides in-patient and out-patient medical care, community services, and school-based programs for children and adolescents with learning disabilities, as well as disorders of the brain, spinal cord, and musculoskeletal system. The Institute provides services for children with developmental concerns mild to severe and is involved in research of various disorders, including new interventions and earlier diagnosis.
Amy Jo Bastian is an American neuroscientist, who has made important contributions to the neuroscience of sensorimotor control. From 2011 she has been a professor of neuroscience at Johns Hopkins University. In 2015 Bastian was appointed Chief Science Officer at the Kennedy Krieger Institute. Bastian is a member of the National Academy of Sciences.
Sabine Stanley is a Canadian physicist, currently at Johns Hopkins University in the Zanvyl Krieger School of Arts and Sciences Morton K. Blaustein Department of Earth And Planetary Sciences and the Applied Physics Laboratory. She was awarded a Bloomberg Distinguished Professorship in 2017. She was previously a Canada Research Chair of Planetary Physics at University of Toronto. She was awarded the William Gilbert Award by the AGU in 2010 and was awarded a Sloan Research Fellowship in 2011.
Laurie Cutting is an American scholar of psychology and pediatrics. She is the Patricia and Rodes Hart Professor of Special Education, Psychology and Human Development, Radiology, and Pediatrics at Vanderbilt University. In addition, she is associate director of the Vanderbilt Kennedy Center and a member of the Vanderbilt Brain Institute, training faculty for Vanderbilt's Neuroscience Ph.D. program.
The Baltimore Lead Paint Study was a controversial clinical study conducted by the Johns Hopkins Kennedy Krieger Institute (KKI) in poor Baltimorean neighborhoods during the 1990s. Families with young children were deliberately exposed to lead by being housed with their families in apartments where lead paint had not been completely removed. Researchers hoped to show that less stringent lead abatement techniques that would cost landlords less money would pose minimal health risks to children. The study was criticised for targeting poor African American children, for exposing children to a known health risk and for inadequate participant consent. The backlash culminated in class action lawsuits against KKI by Ericka Grimes and Myron Higgins, two of the subjects representing on the order of a hundred affected children without adequate care.
Sridevi Sarma is an American biomedical and electrical engineer known for her work in applying control theory to improve therapies for neurological disorders such as Parkinson's disease and epilepsy. She is vice dean for graduate education of the Johns Hopkins University Whiting School of Engineering, associate director of the Johns Hopkins Institute for Computational Medicine, and an associate professor in the Johns Hopkins Department of Biomedical Engineering.
Charlotte Jane Sumner is an American neurologist. She is a professor in the Departments of Neurology and Neuroscience at Johns Hopkins School of Medicine. Dr. Sumner cares for patients with genetically mediated neuromuscular diseases and directs a laboratory focused on developing treatments for these diseases. She co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy (SMA), and the Charcot-Marie-Tooth (CMT) clinics, which deliver multidisciplinary clinical care, engage in international natural history studies, and provide cutting edge therapeutics.
Erika F. Augustine is an Associate Chief Science Officer and Director of the Clinical Trials Unit at Kennedy Krieger Institute. She was previously an Associate Professor of Neurology and Pediatrics at the University of Rochester Medical Center in Rochester, New York. Augustine co-directed the University of Rochester Batten Center, and was the associate director of both the Center for Health and Technology and the Udall Center of Excellence in Parkinson's Disease Research. Augustine's clinical research and medical practice specialize in pediatric movement disorders. She leads clinical trials for Batten diseases, a group of rare pediatric neurodegenerative disorders, and she has developed a novel telemedicine model to increase the efficacy of remote care for patients with rare diseases.
Rebecca Jean Moellman-Landa is an American speech-language pathologist specializing in neuropsychology and autism research. She is the founder and director of the center for autism and related disorders at the Kennedy Krieger Institute. Landa is a professor of psychiatry and behavioral sciences at the Johns Hopkins School of Medicine.
Mary Elizabeth Blue is an American neurobiologist and computational neurologist. She is an associate professor of neurology and neuroscience at the Johns Hopkins School of Medicine and a research scientist in the neuroscience laboratory at Kennedy Krieger Institute.
Anne Marie Spalding Comi is an American pediatric neurologist specialized in the treatment of Sturge–Weber syndrome. She is a professor of neurology and pediatrics at the Johns Hopkins School of Medicine and director of the Hunter Nelson Sturge-Weber Center at the Kennedy Krieger Institute.
References
- 1 2 3 4 5 6 Lees, Marjorie B. (1999-04-01). "Hugo and Ann: A Perfect Partnership". Neurochemical Research . 24 (4): 465–469. doi:10.1023/A:1022519426375. ISSN 1573-6903. S2CID 19148341.
- ↑ "VIAF". Virtual International Authority File. Retrieved 2023-02-06.
- 1 2 3 4 5 6 "Ann B. Moser". Kennedy Krieger Institute. Retrieved 2023-02-06.
- ↑ Kelly, Jacques; Dennis, O'Brien (January 23, 2007). "Hopkins doctor studied rare disorder ALD". Baltimore Sun. Retrieved 2023-02-06.
- ↑ "Ann B. Moser Presented with the Albert Nelson Marquis Lifetime Achievement Award by Marquis Who's Who". 24-7 Press Release Newswire. Retrieved 2023-02-06.
- ↑ "Two Founders of Child Neurology at Kennedy Krieger Institute: Martha Bridge Denckla & Hugo Moser". Child Neurology Society. Retrieved 2023-02-06.
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