Eileen M. Shore
|Known for||Research on connective tissue diseases|
Eileen Shore is an American medical researcher and geneticist specializing in research of muscoskeletal disorders such as fibrodysplasia ossificans progressiva.
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease. It is a severe, disabling disease with no cure or treatment and is the only known medical condition where one organ system changes into another.
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.
A bachelor's degree or baccalaureate is an undergraduate academic degree awarded by colleges and universities upon completion of a course of study lasting three to seven years. In some institutions and educational systems, some bachelor's degrees can only be taken as graduate or postgraduate degrees after a first degree has been completed. In countries with qualifications frameworks, bachelor's degrees are normally one of the major levels in the framework, although some qualifications titled bachelor's degrees may be at other levels and some qualifications with non-bachelor's titles may be classified as bachelor's degrees.
The University of Notre Dame du Lac is a private, non-profit Catholic research university in Notre Dame, Indiana. The main campus covers 1,261 acres (510 ha) in a suburban setting and it contains a number of recognizable landmarks, such as the Golden Dome, the Word of Life mural, the Notre Dame Stadium, and the Basilica. The school was founded on November 26, 1842, by Edward Sorin, who was also its first president.
A Master of Arts is a person who was admitted to a type of master's degree awarded by universities in many countries, and the degree is also named Master of Arts in colloquial speech. The degree is usually contrasted with the Master of Science. Those admitted to the degree typically study linguistics, history, communication studies, diplomacy, public administration, political science, or other subjects within the scope of the humanities and social sciences; however, different universities have different conventions and may also offer the degree for fields typically considered within the natural sciences and mathematics. The degree can be conferred in respect of completing courses and passing examinations, research, or a combination of the two.
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. —she researched fruit fly larvae as a graduate student and studied mammalian embryology as a postdoctoral researcher.Kaplan hired Shore because of her experience as a geneticist
Heterotopic ossification (HO) is the process by which bone tissue forms outside of the skeleton.
Frederick S. Kaplan is an American medical doctor specializing in research of muscoskeletal disorders such as fibrodysplasia ossificans progressiva (FOP).
A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms.
In 2006, Shore and Kaplan published their findings on the genetic mutation that causes FOPas a paper entitled "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". The cause of the disease was traced to a single mutation in the activin A receptor, type I gene.
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, a disease characterized by the formation of heterotopic bone throughout the body.
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".
Palovarotene is a highly selective retinoic acid receptor gamma (RAR-γ) agonist that is under investigation as a potential treatment for fibrodysplasia ossificans progressiva (FOP), an ultra-rare and severely disabling genetic disease characterized by extra-skeletal bone formation in muscle and soft tissues.
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".
Shore has been the recipient of several awards, including:
Paracrine signaling is a form of cell-to-cell communication in which a cell produces a signal to induce changes in nearby cells, altering the behavior of those cells. Signaling molecules known as paracrine factors diffuse over a relatively short distance, as opposed to endocrine factors, juxtacrine interactions, and autocrine signaling. Cells that produce paracrine factors secrete them into the immediate extracellular environment. Factors then travel to nearby cells in which the gradient of factor received determines the outcome. However, the exact distance that paracrine factors can travel is not certain.
Ossification in bone remodeling is the process of laying down new bone material by cells called 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. In fracture healing, endochondral osteogenesis is the most commonly occurring process, for example in fractures of long bones treated by plaster of Paris, whereas fractures treated by open reduction and internal fixation with metal plates, screws, pins, rods and nails may heal by intramembranous osteogenesis.
The Perelman School of Medicine, commonly known as Penn Med, is the medical school of the University of Pennsylvania. It is located in the University City section of Philadelphia. Founded in 1765, the Perelman School of Medicine is the oldest medical school in the United States and is one of the seven Ivy League medical schools. Penn Med consistently ranks among the highest recipients of NIH research awards, and it currently ties for 6th place on U.S. News & World Report's "Best Medical Schools: Research" list.
Myositis ossificans comprises two syndromes characterized by heterotopic ossification (calcification) of muscle.
Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs and represents between 6 and 6.5 percent of the total DNA in cells.
Bone morphogenetic protein 4 is a protein that in humans is encoded by BMP4 gene. BMP4 is found on chromosome 14q22-q23
Bone morphogenetic protein 5 is a protein that in humans is encoded by the BMP5 gene.
The calcium-sensing receptor (CaSR) is a Class C G-protein coupled receptor which senses extracellular levels of calcium ion. It is primarily expressed in the parathyroid gland and the renal tubules of the kidney. In the parathyroid gland, the calcium-sensing receptor controls calcium homeostasis by regulating the release of parathyroid hormone (PTH). In the kidney it has an inhibitory effect on the reabsorption of calcium, potassium, sodium, and water depending on which segment of the tubule is being activated.
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 FOP from the 1900s. 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.
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.