Eileen M. Shore | |
|---|---|
 | |
| Born | |
| Nationality | American |
| Known for | Research on connective tissue diseases |
| Scientific career | |
| Fields | Genetics |
Eileen M. Shore is an American medical researcher and geneticist specializing in research of muscoskeletal disorders such as fibrodysplasia ossificans progressiva.
Shore received her bachelor's degree in biology from the University of Notre Dame in 1976. She then earned a Master of Arts in biology at Indiana University in 1978. Subsequently, she received her PhD from the University of Pennsylvania in cell and molecular biology in 1987. [2]
Shore undertakes research into fibrodysplasia ossificans progressiva (FOP), a genetic disease that causes bone tissue to form outside the skeleton, known as heterotopic ossification. In 1992, Shore and Frederick Kaplan initiated the FOP Research Laboratory. [3] Kaplan hired Shore because of her experience as a geneticist —she researched fruit fly larvae as a graduate student and studied mammalian embryology as a postdoctoral researcher. [4]
In 2006, Shore and Kaplan published their findings on the genetic mutation that causes FOP [5] as a paper entitled "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". [6] The cause of the disease was traced to a single mutation in the activin A receptor, type I gene. [5]
Once the cause of the disease was identified, Shore became involved in efforts to control the disease and its symptoms. In 2016, she was coauthor on a paper that explored the efficacy of a drug on mice with the same genetic mutation. The authors concluded that the drug palovarotene showed promise in preventing heterotopic ossification, stating that there was "clear evidence for its encompassing therapeutic potential". [7]
As of 2015, Kaplan and Shore were the directors of the Center for Research in FOP and Related Disorders. They are considered the "world's foremost experts on FOP". [3]
Shore has been the recipient of several awards, including: [1] [8]
Ankylosis is a stiffness of a joint due to abnormal adhesion and rigidity of the bones of the joint, which may be the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
Ossification in bone remodeling is the process of laying down new bone material by cells named osteoblasts. It is synonymous with bone tissue formation. There are two processes resulting in the formation of normal, healthy bone tissue: Intramembranous ossification is the direct laying down of bone into the primitive connective tissue (mesenchyme), while endochondral ossification involves cartilage as a precursor.
Fibrodysplasia ossificans progressiva, also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue. It is the only known medical condition where one organ system changes into another. It is a severe, disabling disorder with no cure or treatment.
The Perelman School of Medicine, commonly known as Penn Med, is the medical school of the University of Pennsylvania, one of seven Ivy League medical schools in the United States. The medical school is based in Philadelphia. Founded in 1765, it was the first medical school in the United States.
Myositis ossificans comprises two syndromes characterized by heterotopic ossification (calcification) of muscle. The World Health Organization, 2020, has grouped myositis ossificans together with fibro-osseous pseudotumor of digits as a single specific entity in the category of fibroblastic and myofibroblastic tumors.
Heterotopic ossification (HO) is the process by which bone tissue forms outside of the skeleton in muscles and soft tissue.
Ipsen is a French biopharmaceutical company headquartered in Paris, France, with a focus on transformative medicines in three therapeutic areas: oncology, rare disease and neuroscience. Ipsen is one of the world's top 15 biopharmaceutical companies in terms of oncology sales.
Bone morphogenetic protein 4 is a protein that in humans is encoded by BMP4 gene. BMP4 is found on chromosome 14q22-q23.
Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; also known as ALK-2. ACVR1 has been linked to the 2q23-24 region of the genome. This protein is important in the bone morphogenic protein (BMP) pathway which is responsible for the development and repair of the skeletal system. While knock-out models with this gene are in progress, the ACVR1 gene has been connected to fibrodysplasia ossificans progressiva, an extremely rare progressive genetic disease characterized by heterotopic ossification of muscles, tendons and ligaments. It is a bone morphogenetic protein receptor, type 1.
Bone disease refers to the medical conditions which affect the bone.
Activin and inhibin are two closely related protein complexes that have almost directly opposite biological effects. Identified in 1986, activin enhances FSH biosynthesis and secretion, and participates in the regulation of the menstrual cycle. Many other functions have been found to be exerted by activin, including roles in cell proliferation, differentiation, apoptosis, metabolism, homeostasis, immune response, wound repair, and endocrine function. Conversely, inhibin downregulates FSH synthesis and inhibits FSH secretion. The existence of inhibin was hypothesized as early as 1916; however, it was not demonstrated to exist until Neena Schwartz and Cornelia Channing's work in the mid-1970s, after which both proteins were molecularly characterized ten years later.
Harry Raymond Eastlack, Jr. was the subject of the most recognized case of fibrodysplasia ossificans progressiva (FOP) from the 20th century. His case is also particularly acknowledged, by scientists and researchers, for his contribution to medical advancement. After suffering from a rare, disabling, and currently incurable genetic disease, Eastlack decided to have his skeleton and medical history donated to the Mütter Museum of the College of Physicians of Philadelphia in support of FOP research. His skeleton is one of the few FOP-presenting, fully articulated ones in existence, and it has proved valuable to the study of the disease.
Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous ossification.
The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) is a US-based 501(c)(3) non-profit organization supporting medical research, education and communication for those afflicted by the rare genetic condition Fibrodysplasia Ossificans Progressiva (FOP). IFOPA's mission is to fund research to find a cure for FOP while supporting, connecting, and advocating for individuals with FOP and their families, and raising awareness worldwide. IFOPA is governed by a volunteer board of directors which may range in number from 9 to 15, at least one of whom must have FOP. The association's location is 1520 Clay St., Suite H2, North Kansas City, MO, 64116, part of the Kansas City, Missouri metropolitan area.
Michael A. Zasloff is an American physician, medical researcher, and entrepreneur. Zasloff is primarily known for his work on antimicrobial peptides.
Palovarotene, sold under the brand name Sohonos, is a medication used for the treatment of heterotopic ossification and fibrodysplasia ossificans progressiva. It is a highly selective retinoic acid receptor gamma (RARγ) agonist. It is taken by mouth.
FOP Friends, formerly Friends of Oliver, is a registered charity in the United Kingdom established on 1 March 2012. It aims to raise funds that are needed to find effective treatments for the rare genetic condition fibrodysplasia ossificans progressiva (FOP). The charity also works to raise awareness and understanding of FOP amongst medical communities and the general public.
Frederick S. Kaplan is an American medical doctor specializing in research of musculoskeletal disorders such as fibrodysplasia ossificans progressiva (FOP).
LDN193189 is a chemical compound used in the study of bone morphogenetic protein signalling through the ALK2, ALK3 and ALK6 receptors. It has been researched for the treatment of fibrodysplasia ossificans progressiva.
Carol Orzel was an American woman with fibrodysplasia ossificans progressiva (FOP). She advocated for research into FOP and was an activist for disability rights. Before her death, she requested that her skeleton be displayed in the Mütter Museum.