Related Research Articles
Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs.
Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms.
Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, but has a milder course.
Kevin P. Campbell is an Investigator for the Howard Hughes Medical Institute, UI Foundation Distinguished Professor, the Roy J. Carver Chair of Molecular Physiology and Biophysics, and head of the department; he is also professor of neurology and internal medicine at the University of Iowa.
The dystrophin-associated protein complex, also known as the dystrophin-associated glycoprotein complex is a multiprotein complex that includes dystrophin and the dystrophin-associated proteins. It is one of the two protein complexes that make up the costamere in striated muscle cells. The other complex is the integrin-vinculin-talin complex.
Dame Kay Elizabeth Davies is a British geneticist. She is Dr Lee's Professor of Anatomy at the University of Oxford and a Fellow of Hertford College, Oxford. She is director of the Medical Research Council (MRC) functional genetics unit, a governor of the Wellcome Trust, a director of the Oxford Centre for Gene Function, and a patron and Senior Member of Oxford University Scientific Society. Her research group has an international reputation for work on Duchenne muscular dystrophy (DMD). In the 1980s, she developed a test which allowed for the screening of foetuses whose mothers have a high risk of carrying DMD.
Eva Engvall, born 1940, is one of the scientists who invented ELISA in 1971. She is an elected fellow of the American Association for the Advancement of Science.
Eteplirsen is a medication to treat, but not cure, some types of Duchenne muscular dystrophy (DMD), caused by a specific mutation. Eteplirsen only targets specific mutations and can be used to treat about 14% of DMD cases. Eteplirsen is a form of antisense therapy.
Susan Forrest is an Australian genomics expert and Director/CEO of the Australian Genome Research Facility (AGRF).
Ronald G. Worton is a Canadian doctor.
Sunil Pradhan is an Indian neurologist, medical researcher and writer, known for the invention of two electrophysiological techniques. He has also described five medical signs, of which one related to Duchenne muscular dystrophy is known as Pradhan Sign, and the others associated with facioscapulohumeral muscular dystrophy (FSHD) and similar neuro diseases. The Government of India awarded him the Padma Shri, the fourth highest civilian award, in 2014 for his contributions to the field of neuroscience.
Kathryn Nance North is a paediatric physician, neurologist, and clinical geneticist. In 2013, she was appointed Director of the Murdoch Childrens Research Institute and was named the David Danks Professor of Child Health Research at the University of Melbourne. In 2012, North was appointed chair of the National Health and Medical Research Council Research Committee. In 2014, she was appointed vice chair of the Global Alliance for Genomics and Health (GA4GH) and co-chair of its Clinical Working Group.
Vamorolone, sold under the brand name Agamree, is a synthetic corticosteroid, which is used for the treatment of Duchenne muscular dystrophy. It is taken by mouth.
Robert Williamson is a retired British-Australian molecular biologist who specialised in the mapping, gene identification, and diagnosis of human genetic disorders.
Michel Fardeau, is a medical researcher in medical pathology, pioneering founder in France of myology, a medical discipline treating diseases of the neuromuscular system. He was also a full professor at the Conservatoire National des Arts et Métiers in a chair dedicated to the social integration of disabled people.
David Gardner-Medwin was a British physician who worked as a paediatric neurologist in Newcastle upon Tyne, serving as the only neurologist for children for a population of 3.5 million. He is credited with introducing multidisciplinary care to the management of boys with Duchenne muscular dystrophy (DMD). When he retired at the age of 60, four consultants were appointed to replace him.
Toshifumi (Toshi) Yokota is a medical scientist and professor of medical genetics at the University of Alberta, where he also holds the titles of the Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair and the Henri M. Toupin Chair in Neurological Science. He is best known for his research in antisense therapy for muscular dystrophy that led to the development of an FDA-approved drug viltolarsen. His research interests include precision medicine for muscular dystrophy and genetic diseases. He has co-edited two books both published in the Methods in Molecular Biology series from Humana Press, Springer-Nature, and has published more than 100 refereed papers and patents. He is a member of the editorial boards for the International Journal of Molecular Sciences, Genes, Frontiers in Genome Editing, Frontiers in Physiology, and Nucleic Acid Therapeutics, a member of the Medical and Scientific Advisory Committee of Muscular Dystrophy Canada, and a co-founder of the Canadian Neuromuscular Network (CAN-NMD).
Frederick Sachs was an American biologist. He was a SUNY Distinguished Professor in the University at Buffalo's Department of Physiology and Biophysics.
Monique Marie Ryan is an Australian politician and former paediatric neurologist. She is currently the independent member of parliament for the Division of Kooyong, having won the seat at the 2022 Australian federal election.
References
- 1 2 3 "Sue Fletcher, Principal Research Fellow". profiles.murdoch.edu.au. Retrieved 2022-10-21.
- 1 2 3 "Research - Racing For MNDi". 2021-02-27. Retrieved 2022-10-21.
- ↑ "Duchenne muscular dystrophy drug approval brings hope for Perth family". ABC News. 2016-09-20. Retrieved 2022-10-21.
- ↑ "Making a difference through personalized medicine".
{{cite journal}}: Cite journal requires|journal=(help) - 1 2 3 4 5 6 "Professor Susan Fletcher". It's an honour. Retrieved 2022-10-21.
- ↑ Fletcher, Sue (1988), The expression of alpha₂-macroglobulin, alpha₁-acid glycoprotein and thiostatin in the developing rat : in vivo and in vitro studies , retrieved 23 October 2022
- ↑ Shanahan, Rachel (2022-10-14). "Professor Susan Fletcher". Australian Academy of Health and Medical Sciences. Retrieved 2022-10-23.
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