Merritt Engel published New Biobank Generates Excitement for Research in IFOPA News 2019-04-22 09:20:05 -0400
“The IFOPA’s FOP Biobank is a wonderful resource and asset for the FOP research community”Read more
The IFOPA funds ACT for FOP and the Million Dollar Bike Ride Pilot Grant ProgramRead more
Merritt Engel published Support the Quality of L.I.F.E. Awards for Giving Tuesday in IFOPA News 2018-11-12 15:38:40 -0500
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FOP-related medical and research terms
We know that some of our documents are highly technical to read, so we encourage the use of this glossary to help make better sense of the scientific aspects of FOP. Please don't hesitate to contact the IFOPA with any questions concerning this glossary.
Glossary has been composed by Dr. Frederick S. Kaplan, Dr. Eileen Shore and Rishi R. Gupta.
Adenovirus: A family of DNA viruses that is used as a vehicle for the delivery of genes in many forms of gene-therapy.
Allele: One of the alternative versions of a gene (i.e variation in DNA sequence) that occurs at a specific chromosomal locus (site).
Ambient: In the environment. Commonly used: “ambient temperature” = temperature in the current environment.
Aminobisphosphonate: A type of bisphosphonate drug, which is (ironically) a potent inhibitor of osteoclast-mediated bone resorption and also a potent inhibitor of angiogenesis (new blood vessel formation) – a process that is necessary for new bone formation.
Animal model: An animal sufficiently like humans in it anatomy, physiology, or response to an injury that is used in medical research in order to obtain information that can be extrapolated to human medicine.
Angiogenesis: The formation of new blood vessels.
Anti-angiogenic: The property of preventing the formation of blood vessels.
Antigen: Typically a foreign (not naturally occurring in the body) protein that is capable of stimulating an immune response.
Anti-neoplastic: Inhibiting or preventing growth and spread of tumors.
Apoptosis: A genetically determined self-destruction of cells that is thought to exist to mediate the orderly elimination of unnecessary cells. Frequently described as “programmed cell death.”
Athymic: Lacking a thymus. The thymus is the site of production of T lymphocytes, a vital part of the adaptive immune system.
Autoregulatory Negative Feedback Loop: A physiological thermostat that dampens and regulates the response of a system to external input.
Base pair: One of the pairs of chemical bases in the DNA double helix that carries genetic information.
Bioinformatics: The collection, classification, storage, and analysis of biochemical and biological information using computers, especially as applied to molecular genetics and genome sequencing.
Blastocyst: One of the earliest stages of an embryo.
Bone Morphogenetic Protein (BMP): A family of potent proteins involved in the promotion of bone formation. The study of these proteins and their related pathways forms a core component to the study of FOP.
Candidate gene: A gene that is suspected of being involved in a disease. Candidate genes may be identified by their location in a chromosomal region that has been linked to the disease and/or by what is known about the cellular function of the protein product encoded by the gene (often of the same name).
Chromosome: One of the DNA-containing structures of the cell that contain most or all of the genes of the individual.
Crystallography: 3D structure of the molecule : A science that deals with the forms and structures of crystals. A molecule forms a three-dimensional structure and this is the study of that specific structure and how it relates to cellular processes.
Clathrin: The major component protein of a cage-like structure that is important in brining proteins from the outside to the inside of a cell.
Corticosteroids: Any of various chemical made by the adrenal gland and used medically, especially as anti-inflammatory agents.
Cyclooxygenase-2 (cox-2) Inhibitors: Any of a class of drugs (as celecoxib or rofecoxib) that selectively block the COX-2 enzyme but not the COX-1 enzyme. These drugs are intended to relieve pain and inflammation while minimizing gastrointestinal side effects – called also COX-2 blockers.
DNA (deoxyribonucleic acid): The molecule that encodes the genes responsible for the structure and function of living organisms and that transmits genetic information from one generation to the next. DNA molecules, localized mainly in cell nuclei, are constructed of a double helix held together by hydrogen bonds between purine and pyramidine bases which project inward from two chains containing alternate links of deoxyribose (a sugar) and phosphate.
Ectopic: Occurring in an abnormal position or place.
Endochondral: Relating to bone formation that take place on a cartilage scaffold.
Endocytosis: Incorporation of substances into a cell by a process where the cell membrane invaginates to form vesicles.
Endosome: A cellular structure that is involved in the transport of proteins from the outside to the inside of the cell.
Endothelial cells: Polygonal, elongated cells that form the entire lining of the vascular system (the endothelium). Their structure and functional integrity is fundamental to the integrity of vessel wall and the circulation.
Exon: A genetic sequence that codes information for the formation of a protein and that is copied and spliced together with other such sequences to form messenger RNA – also see INTRON.
Exostoses/osteochondromas: A specific type of benign bony outgrowth from a bone that occurs near the growth plates by an endochondral process.
Fibroblast growth factors (FGF): A family of protein growth factors involved in new blood vessel formation, wound repair, lung maturation, and the development of skeletal muscle, specific lineages of blood cells and bone marrow stroma. FGFs are recognized by a family of cell surface receptors that have the ability to catalyze reactions inside the cell after they are activated by the FGFs.
Fibroproliferative: Of or relating to the growth and proliferation of fibroblasts, the most basic connective tissue cell.
Fibrous: Containing, consisting of, or resembling fibers. b : Characterized by fibrosis. c : capable of being separated into fibers.
Gene: A specific sequence of DNA or RNA that is located on a chromosome. A gene is the functional unit of inheritance controlling transmission and expression of one or more traits by specifying the structure of a particular protein.
Gene therapy: The insertion of normal or genetically altered genes into cells, usually to replace defective genes especially in the treatment of genetic disorders.
Genome-Wide Linkage Analysis: The study of the relationship between genetic markers of affected vs. unaffected individuals in a family with a genetic disease in order to localize chromosomal region of the gene responsible for the disease.
Genotype: The genetic composition (alleles) of an individual in total or at a specific locus.
Glucocorticoids: Synonymous with corticosteroids.
Glycoprotein: A protein-conjugate with a carbohydrate (sugar) component.
Gradient: Change in the concentration of a substance with distance from the cell that makes the substance.
Gremlin: The name of a specific secreted BMP antagonist (inhibitor).
Heparin: type of long chain sugar that is found especially in liver, that prolongs the clotting time of blood, and that is used medically.
Heparin Sulfate Proteoglycans (HSPGs): Ubiquitous macromolecules associated with the cell surface and extracellular matrix of a wide range of cells of vertebrate and invertebrate tissues. They are essential cofactors in cell-cell recognition systems, in receptor-growth factor interactions, and in internalization of receptors.
Heterogenous: Consisting of dissimilar or diverse ingredients or constituents.
Heterotopic Ossification: Bone formation that occurs in an abnormal place. Synonymous with ectopic.
Heterozygous: Having two different alleles at corresponding loci on homologous chromosomes in a cell.
Histology/Histopathology: A branch of anatomy that deals with the minute structure of animal and plant tissues as discernable with the microscope.
Immunology: A science that deals with the immune system.
In vitro: Outside the living body/in an artificial environment.
In vivo: Within the living body.
Integrins: Cellular sensors that act as signaling molecules.
Intron: A segment of a gene that is transcribed to RNA but then is removed from the primary RNA transcript by splicing together the sequences (exons) on either side of the intron.
Lesion: An abnormal lump or bump.
Ligand: Usually refers to a protein like BMP that is secreted and binds to a receptor (often on the surface of a cell).
Lymphoblastoid: Describing a peripheral blood lymphocyte immortalized by a virus such as Epstein-Barr virus (EBV).
Lymphocyte: Any of the colorless mobile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow).
Lymphocytes are the typical cellular elements of lymph (or tissue fluids), include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood.
Lysosome: a saclike structure within cells that contains various enzymes that break down other cellular products.
Mast cell: A large cell that exists mainly in connective tissue. Mast cells have a colorful granules containing substances (as histamine and heparin) that act as molecular toolkits to mediate allergic reactions and stimulate tissue repair.
Matrigel: a liquid preparation that is extracted from mouse tumor cells and is rich in extracellular matrix proteins. Its major component is laminin, followed by collagen IV, heparan sulfate proteoglycans, and entactin. At body temperature, the matrigel polymerizes to form a matrix of connective tissue proteins. It is often used as a carrier substance for the injection of proteins such as BMPs.
Meiosis: The cellular process that results in the number of chromosomes in gamete-producing cells (eggs and sperm) being reduced to one half. One of each pair of homologous chromosomes passes to each daughter cell.
Microarray Gene Expression Studies: Used to quantitatively examine the expression of RNA for thousands of genes in the genome. Gene expression refers to the transcription of gene from the stable DNA code into the less stable RNA intermediate that is used by the cell to direct the formation of proteins. In order to identify abnormal gene expression, we use gene chips (a key component of this technology), which are sensitive to mRNA levels in a particular sample, to assay the expression level of >30,000 individual genes at one time. This strategy allows us to determine how these genes respond in any particular single situation. If a gene behaves differently in a disease state vs. a normal state, then it can be inferred to have something to do with the disease.
Mitochondria: Any of various round or long cellular organelles that are found outside the nucleus, produce energy for the cell, and are rich in fats, proteins, and enzymes.
Mitotic Recombination: Any process of cell division that generates a diploid daughter cell with a re-assorted combination of genetic information (alleles).
Monoclonal: Derived form a single cell.
Monocytes: A large white blood cell that is formed in the bone marrow, enters the blood, and migrates into the connective tissue where it differentiates into a scavenger cell involved in the body's immune defense systems.
Morphogen: A diffusible protein that exerts control over tissue formation especially by forming a concentration gradient.
Morphology: (a) A branch of biology that deals with the form and structure of animals and plants; (b) the form and structure of an organism or any of its parts.
Mutation: A change in the DNA sequence that usually leads to a disease.
Mutein: A genetically engineered protein arising as a result of a laboratory-induced mutation.
Myosin: A fibrous protein of muscle that can split ATP, an energy molecule, and that reacts with actin to form actomyosin (not to be confused with Actinomycin : A type of drug that has the capability of inhibiting the transcription of mRNA from DNA.)
Neoplasm: New growths that should not be where they are. A tumor. An FOP lesion.
Noggin: The name of a specific secreted BMP antagonist (like gremlin). If BMP is a bone making signal, noggin is a “stop making bone” signal.
Nucleus: Substructure within cells that contain chromosomes (DNA).
Nucleated: Having a nucleus or nuclei.
Osteoclast: A large multinucleated cell whose sole responsibility is to resorb (eat up) bone. These cells are derived from blood-forming stem cells in the bone marrow.
Osteogenesis: The development and formation of bone.
Pathogenesis: The origination and development of disease.
Pathology: (a) The study of the essential nature of diseases and especially of the structural and functional changes produced by them; (b) Something abnormal; (c) The structural and functional deviations from the normal that constitute disease or characterize a particular disease.
Pathophysiology: The physiology of abnormal states; specifically, the functional changes that accompany a particular syndrome or disease.
Perichondrium: The membrane of fibrous connective tissue that surrounds cartilage, except at joints.
Peripheral Blood: The fluid that circulates in the heart, arteries, capillaries, and veins of an animal. Peripheral blood carries nourishment and oxygen to and brings away waste products from all parts of the body.
Perivascular Cells: Cells surrounding a blood vessel.
Phenotype: The visible properties of an organism that are produced by the interaction of the genotype and the environment.
Phosphorylation: The process of adding a phosphate group to a molecule. This often activates the molecule by altering its shape or charge and allows it to participate in a chemical reaction.
Physiology: (a) A branch of biology that deals with the functions and activities of life or of living matter (as organs, tissues, or cells) and of the physical and chemical phenomena involved; (b) The organic process and phenomena of an organism or any of its parts or of a particular body process.
Positional cloning: A technique used to identify genes, usually those that are associated with diseases, based on their location on a chromosome.
Preosseous: Tissue that is at an intermediate stage between undifferentiated connective tissue and bone.
Prostaglandins: A type of fatty acid that is made from the enzymatic breakdown of cell membranes that perform a variety of hormone-like actions (as in controlling blood pressure or smooth muscle contraction).
Proteins: Any of numerous naturally occurring, extremely complex substances that consist of amino-acid residues joined by peptide bonds. Proteins include many essential biological compounds (as enzymes, morphogens, growth factors, structural proteins, hormones, or immunoglobulins).
Proteoglycans: Any of a class of high molecular weight protein-sugar polymers that are found especially in the extracellular matrix of connective tissue.
Radioimmunoassay: A method to measure the amount of a substance using an antibody against the substance for specificity and a radioactive label for detection and measurement.
Receptor Signaling: The process in which the binding of signaling molecules to cell surface receptors leads to activation of particular proteins that turn-on and turn-off genes.
Receptor Trafficking: The movement of receptors from one part of the cell to another (often associated with receptor activation at the cell surface and/or degradation within the cell.)
Recombinant-Genetically Engineered: A term used to describe the manufacture of a protein by “genetic engineering”; usually by using a cloned gene as a template for making a specific protein.
RNA: Any of various nucleic acids that contain ribose and uracil as structural components and are associated with the control of cellular chemical activities. RNAs may be intermediaries between DNA and proteins (as in messenger RNA) or may have specific structural or enzymatic activities as in ribosomal RNA, transfer RNA or inhibitory RNA.
Sarcoplasmic Reticulum: The specialized endoplasmic reticulum of cardiac muscle and skeletal striated muscle that functions especially as a storage and release area for calcium.
Satellite Cells: A reserve cell population located in skeletal muscle fibers that is responsible for growth, healing, and regeneration of skeletal muscle.
Sequencing Genes: To determine the DNA nucleotide sequence (the genetic code) of a gene.
Signal Transduction: The process by which extracellular signals are detected and converted into intracellular signals, that, in turn, generate specific cellular responses.
Squalamine: An example of a powerful anti-angiogenic molecule originally isolated from the liver of dogfish sharks.
Stem Cells, Hematopoietic and Mesenchymal: Stem cells are of embryonic origin and possess the properties of both self-renewal and differentiation into a wide variety of tissue types. There are many different types of stem cells among which include Hematopoietic and Mesenchymal. Hematopoietic Stem Cells (HSCs) have the properties to give rise to all known cell types in the blood-forming and immune (hematolymphoid) systems. The bone marrow also contains other non-hematopoietic cells termed mesenchymal stem cells (MSCs), that are capable of both self renewal and differentiation into bone, cartilage, muscle, tendon, and fat. MSCs are similar to HSCs in that they are very rare, existing at an estimated frequency of about 1 in 100,000 bone marrow cells.
Syndecans and Glypicans: Integral membrane proteins in the family of heparan sulfate proteoglycans.
Thalidomide: A sedative and hypnotic drug C 13 H 10 N 2 O 4 that has been the cause of malformation of infants born to mothers using it during pregnancy. Thalidomide acts as an antiangiogenic agent and therefore can be inhibitory for bone formation.
Transcription: The process of constructing a messenger RNA molecule using a DNA molecule as a template. The messenger RNA (mRNA) is the unstable intermediate in the formation of a protein. (If the DNA is the cookbook, the mRNA is the recipe copied from the cookbook to make the protein (the cake).
Transforming Growth Factor-Beta Receptors: A receptor on cell membranes that binds TGF-beta, a growth factor involved in a number of biological events important in normal and abnormal growth of cells and tissues.
Transgenic: Having chromosomes into which one or more “foreign” genes (genes from a different organism and/or genes that have been modified) have been incorporated either artificially or naturally.
Transposons (Jumping Genes): Mobile elements of DNA that can insert into new locations in the chromosomal DNA and that can affect the function of genes at or near the insertion site.
Vascular: Referring to a channel for the conveyance of a body fluid, such as a blood vessel or a lymphatic vessel.
Vector: A sequence of genetic material used to introduce specific genes into the genome of an organism. A carrier molecule.
Merritt Engel published Your Year-End Gift Can Have Twice The Impact in IFOPA News 2017-12-22 11:34:59 -0500
There's still time to double your support of FOP families and researchRead more
Merritt Engel published 2017 Jeannie Peeper Award Winners in Jeannie Peeper Awards 2017-07-19 10:27:42 -0400
Posted July 19, 2017
We are pleased to announce the 2017 Jeannie Peeper Award Winners! The Peeper Awards recognize those who have made exceptional contributions to the worldwide FOP community through their leadership and service in raising FOP awareness, supporting patients and families, and raising funds to support the IFOPA’s vision to cure FOP. This year’s winners join 32 other individuals and groups who have been honored with this award since 2010.
The Jeannie Peeper Awards Committee led by Steve Eichner includes Jeannie Peeper, Gretty Emmerich, Karen Munro, Nancy Sando and Michelle Davis. The committee thanks all of those that made nominations. Of note, current Board members of the IFOPA are not eligible to receive a Jeannie Peeper Award.
Congratulations to the 2017 winners whose gifts of time and talent have made an incredible impact on the FOP community! We’re excited for you to learn more about them through the stories below.
President's Lifetime Leadership Award
After Moira’s son, Manuel, was diagnosed with FOP in 2001 at 4 years of age, she knew she wanted to join other family's efforts around the world to get a treatment to benefit Manuel and all the people suffering from a disease as devastating as FOP is. The major areas in which she knew she could contribute were research, advocacy and helping to connect FOP patients internationally to build a strong international FOP community. Since then, her efforts have led to significant developments for the IFOPA and the international FOP community.
Notable among Moira’s many leadership roles are her service on the IFOPA’s Board of Directors from 2011 to 2016, and her incredible work as Founder and President of Fundación FOP, the only FOP national organization in Argentina.
Though its original vision was to provide FOP resources and advocacy in Argentina, Fundación FOP has since extended its efforts to serve patients and families throughout South and Central America. Moira knows this outreach is critical, since most FOP patients in the region do not have a national organization in their country. Language is another barrier for many families, so Moira took the lead on translating and reviewing translations of IFOPA materials into Spanish, including the FOP Patient Registry.
Moira explained, “It is important to connect FOP families in different countries. We all work together, and we all have the same goal - we want a treatment for FOP.”
Moira has personally connected with over 60 families in Central and South America, and has shared important IFOPA resources with them, such as the Quality of L.I.F.E. Awards.
Moira has also organized two family meetings, and is currently planning the third. The third Latin American FOP meeting will be held August 28-29 of this year, and 26 FOP families will be attending. She has invited patients and families across Central and South America.
Moira has attended numerous FOP meetings throughout the world, including FOP Italia family meetings and the first FOP Scientific Symposium in Philadelphia in 2011.
Since joining her voice to the IFOPA’s, Moira has contributed to numerous victories for the organization.
Through reading the University of Pennsylvania’s Annual Report of the FOP Collaborative Research Project and conversations with Dr. Fred Kaplan, Moira understood one of the key issues for researchers in discovering the FOP gene was identifying multigenerational FOP families. She began to search for these families, and identified a multigenerational family in Korea whom Dr. Kaplan knew but had lost contact with. This family was key in ultimately uncovering the FOP gene.
Moira joined the IFOPA’s International President’s Council (IPC) when it was started in 2007, and served as Chair from 2011 to 2014.
“My main goal as IPC Chair was to contribute to building a strong and united international FOP community,” she said. “This led me to establish an annual in-person meeting for all IPC members in conjunction with the annual FOP Italia meeting. I also included Russia as new members of the IPC, and I started the FOP in Numbers project to collect the number of FOP patients in each country, in order to know how many people comprise the international FOP community.”
Moira’s interest in research led her to join the IFOPA’s Research Committee in 2015, a committee she chaired in 2016 and continues to serve on in 2017. In 2014 and 2016, the IFOPA sponsored two FOP Drug Development Forums.
Moira is incredibly thankful to be named the IFOPA’s President’s Lifetime Leadership Award Winner for 2017. Her main hopes for the future are for her son and others living with FOP to have safe and effective treatment options and opportunities to continue to improve their lives.
Thank you, Moira, for the extraordinary leader you have been—and continue to be—in the FOP community.
Outstanding Community Involvement Award
Individual: Amanda Pullano
“Whenever I make a wish, whether I’m blowing out my birthday candles or throwing a coin into a fountain… every time, I wish for a cure for FOP.”
Amanda Pullano first learned about FOP when Dr. Fred Kaplan diagnosed her sister, Holly, in 1997 at age 16. Then, in 2000, they attended an IFOPA Family Gathering in Florida and met other FOP patients and families for the first time.
“I was amazed by the strength and positivity of everyone we met there,” she said. “It was especially helpful to learn about modifications and strategies to make sure Holly could live comfortably and independently.”
Amanda and her family remained connected with the FOP community in the years following, but this year, they took their involvement to the next level.
Amanda took the lead in organizing an all-day music festival held at Wild Bills Nostalgia in Middletown, Conn., to raise funds for the IFOPA. Seven popular local bands joined the Physical Freedom Festival lineup, and several FOP patients, including Jasmin Floyd and Holly LaPrade, spoke about FOP at the event. Additionally, Rory Otto spoke about developments in FOP research. This first-time event raised more than $45,000.
“The festival was a labor of love,” Amanda said. “It wouldn’t have happened without my sister, mom, and everyone on my committee.
“I’m so honored to receive this award, and I’m thankful for all the IFOPA has done for my family. We’re so close to finding a cure, and I know we will continue to fight until we do.”
The IFOPA is grateful to Amanda for her efforts in organizing such an exceptional event.
Outstanding Community Involvement Award
Individual: Kim Weston
Moments after Kim’s son, Shane Terry, was born, they realized something was amiss. Baby Shane’s legs were stiff, and he had bone spurs on his hips and knees. After years of appointments and searching, he was diagnosed with FOP at Boston Children’s Hospital at age 4.
“We immediately connected with the IFOPA,” she said. “We wanted to contribute whatever we could to raising funds for research, so a few months later we hosted our first golf tournament in Watertown, NY.”
Since then, Kim has taken an active role raising funds for FOP research from golf tournaments to spare change drives to scrapbooking events, ladies' nights and Softball in the Snow. Since their fundraising efforts began, she has raised more than $40,000. She remains grateful for the incredible support shown by FOP patients and families in the IFOPA community.
“When we attended the international symposium in Orlando, Fla., that was the first time Shane saw other FOP patients,” she said. “I was able to meet other parents, and talk about modifications and tips as we prepared for Shane to enter kindergarten.
“The IFOPA has always shown us that we are not alone, and there are people we can reach out to with questions and concerns.”
Nine years later, Shane is enjoying a busy summer full of STEM (science, technology, engineering and math) camp activities and reading. He loves school, and plans to be an author or police officer when he grows up.
Kim is thankful and excited to receive the Outstanding Community Involvement Award for 2017.
The IFOPA congratulates Kim for this accomplishment, and thanks her for her tireless efforts on behalf of the IFOPA community.
Outstanding Community Involvement Award
Group: The Lawler Family
Kristine Lawler beams with pride as she talks about her husband Will, son Matt, and daughters Marisa and Morgan.
The Lawler family’s foundation of strength and support proved especially vital when their youngest daughter, Morgan, was diagnosed with FOP at 4 years of age. After receiving the diagnosis, Dr. Fred Kaplan told Kristine that the IFOPA was a resource they could turn to. Soon, Kristine and her family found comfort from what she described as a “tight family-based organization that helps us not feel so alone.”
Kristine was relieved to meet FOP patients and families who understood her concerns and could share a wealth of knowledge.
As the community in East Bridgewater, Mass., rallied around Morgan, Kristine met the Woods, a special couple with exceptionally big hearts who organized Morgan’s Ride. Their incredible efforts have increased participation and sponsorships each year.
In addition to Morgan’s Ride, there have been Spaghetti Dinners and other community fundraisers raising more than $40,000 for FOP research.
Kristine is so thankful for the friendships she’s made. “It is clear to me that everyone in the IFOPA community is pulling for each other,” she said. “These connections and relationships mean so much.”
Today, Kristine corresponds with other families to share adaptations helpful in daily living.
Kristine says Jeannie Peeper really created something great and Jeannie herself has reached out to check on how Morgan is doing. Morgan’s flare-ups have been mild up until this past year. Kristine hopes the FOP community will continue to share resources and research as they continue working towards a cure.
The IFOPA is appreciative of the Lawler family’s exceptional efforts on behalf of the entire IFOPA community, specifically through fundraising and peer-to-peer mentorship.
Outstanding International Leadership Award
Julie Collins is an extraordinary role model for the FOP community. Throughout her tenure with the IFOPA and FOP Australia, she has worked to connect newly diagnosed FOP patients with expert doctors and researchers; secure funding for FOP research; do interviews about FOP with various media outlets; and provide guidance and support to FOP families in Australia and New Zealand.
Julie first learned about FOP when her 18-month-old son, Ollie, was diagnosed in 1995.
“We felt so isolated at first,” she said. “I quickly realized the need for a patient organization in Australia. So with the support and encouragement of friends and family, I began working to establish what would become FOP Australia.”
Julie wrote to many patients, researchers and doctors for guidance. “It wasn’t long before I met Jeannie Peeper and Amanda Cali,” Julie said. “They were incredibly inspirational, and gave me the resources and knowledge I needed to care for a young child with FOP.”
Ollie and Julie traveled to IFOPA meetings and symposiums throughout Ollie’s childhood, including the third international symposium in Philadelphia, Penn. in 2000 and the fourth international symposium in Orlando, Fla. in 2007.
Julie was appointed as the International President’s Council representative for Australia when the IPC formed in 2007, and served in this role for nine years. She greatly enjoyed representing Australia at conferences and forums in Italy and the United States, but in particular, she loved liaising with patients and families in Australia.
She is a passionate advocate who worked tirelessly toward the dream of establishing a patient organization for FOP patients and families in Australia and New Zealand. In 2014, the family of Jarvis Budd, another Brisbane FOP patient, joined the effort.
Julie said, “The Budd family helped our dream become a reality. We were all so thrilled when FOP Australia officially formed in 2015.”
Julie was nominated to serve as Vice Chairperson of FOP Australia. She was also a key contributor to writing, designing, and partially funding the FOP Australia website, which launched in 2016.
Julie helped inspire a culture of fundraising among the Australian FOP community that continues to this day. She organized the second-ever Australian FOP Conference in Brisbane in 2016, and assisted in organizing the FOP Australia launch party and fundraiser in 2016.
At the same time, a key priority for Julie was to reach out to the Australian medical community and seek an appropriate doctor to oversee a Natural History Study (NHS) site in Australia as part of the Clementia FOP trial.
After attending the inaugural Drug Development Forum in Boston in 2014, Julie was given the name of Professor Matt Brown, MBBS, who, at the time, was with the University of Queensland.
In 2016, Professor Brown’s group from Queensland University of Technology and Princess Alexandra Hospital (PAH), and Dr. Ben Whitehead from Brisbane’s Lady Cilento Children’s Hospital in Brisbane, agreed to establish a NHS trial site that has subsequently been extended to a palovarotene trial site. This allowed Australian families to participate in the clinical trial without having to fly thousands of miles to the palovarotene trial site in the United States. Julie was also an active participant in the Clementia Patient Narrative Project.
Matt and his team, with input from Julie, have since embraced the idea of creating a center for excellence in FOP clinical support for Australia.
Julie repeatedly emphasizes that everything she has achieved for the IFOPA and FOP Australia has stemmed from her deep care and concern for all patients with FOP.
Julie said, “These achievements would not have been possible without the love and support of my family and friends, as well as the teamwork of the Australian and international FOP community.
“My hope for FOP Australia is that we find every FOP patient there is. And my hope for the IFOPA is that we remain warmly family-centered as we continue working to find a treatment and cure for FOP.”
Julie is incredibly proud of the man Ollie has become, and credits much of his success and passion for all he does with the support they received from the IFOPA community ever since he was diagnosed. Ollie even received the first-ever Inspiring Leadership Award in 2010. He recently graduated law school, and is now a successful lawyer working in Brisbane.
The IFOPA thanks Julie for her years of service and incredible advocacy work for both the IFOPA and FOP Australia.
Inspiring Leadership Award
Soon after Jasmin started kindergarten in 1998, she began complaining to her parents of a stiff neck. After seeing several doctors and specialists, they learned Jasmin had FOP.
In the years following, Jasmin felt “insecure, tentative and very reserved” as she learned to navigate her world with the progressing symptoms of FOP. But through the support of her many friends at the IFOPA, Jasmin developed the strength to share her story with other FOP patients and the rare disease community.
Jasmin’s family had a greeting card and small gifts company from 2001 to 2009 and sold items at craft shows and events. Jasmin said, “This was a great way to raise awareness of FOP. It was also nice to be able to give a small percentage of the proceeds to the IFOPA.”
Since then, Jasmin has done exceptional work to raise awareness through her blog One Spirit, Two Skeletons, social media accounts, a feature story on CNN, and a recent feature article that hit media outlets worldwide!
Jasmin’s efforts, which have brought more exposure to the FOP community, led her to be nominated for the 2017 Jeannie Peeper Award for Inspiring Leadership.
Jasmin says it is a huge honor to receive this award, and be recognized for her efforts to write and speak about her life with FOP. She is also grateful for the vital support she has received from the IFOPA.
She said, “Receiving this award feels surreal. It’s helping me to realize how much I’ve grown as an individual.
“It’s such a blessing to have a community I can turn to with any random, scary, intimidating or even embarrassing problem I may struggle with as a result of FOP progression. I’m comforted by my friends with FOP, some of whom I’ve known for over 15 years, and I’m grateful to be able to connect with so many incredible doctors and researchers.”
Today, Jasmin’s hobbies and interests include writing, reading, traveling, photography and public speaking.
Jasmin hopes the FOP community will continue to find even more ways to stay connected through events and gatherings worldwide.
She concluded, “There’s an unbreakable family bond between all of us that’s even stronger when we have opportunities to connect in person. I’m extremely grateful for our FOP family and always look forward to whenever and wherever the next reunion may be!”
The IFOPA congratulates Jasmin, and thanks her for sharing her experiences with the FOP and rare disease communities on her uplifting and inspiring blog.
April 23, 2017
On Sunday, April 23 the FOP community celebrated International FOP Awareness Day which commemorated the eleventh anniversary of the 2006 announcement of the discovery of the FOP gene, ACVR1.
Thank you to the FOP Community for a successful Awareness Day! Together you...
- Raised more than $25,000
- Reached 32,427 people on Facebook
- Shared the FOP Facts posts 316 times
- Two anonymous donors challenged the FOP Community to raise a combined $21,000 for Awareness Day - $11,000 for the eleventh anniversary of the announcement of the gene discovery, and $10,000 in honor of FOP'er, Natalie McGuire. Thanks to the FOP community, the match was met! You may still make a donation in honor of Awareness Day through April 30, 2017 at https://donate.ifopa.org/awarenessday2017.
Since this milestone discovery, the IFOPA has been proud to be a part of many more accomplishments on the road to #curefop.
• April 23, 2006 – Announcement that ACVR1, the FOP gene, had been discovered
• 2006 – The IFOPA Quality of L.I.F.E. Awards established. More than $50,500 has been granted to individuals living with FOP to purchase specific items which allow them to Live Independently with Full Equality (L.I.F.E.)
• 2007 – The IFOPA formed the International President’s Council (IPC) to better support individuals living with FOP in specific regions around the world. Today, there are 23 IPCs in 19 countries working together with the IFOPA.
• 2010 – The IFOPA first offered medical binders to help individuals living with FOP keep track of their health. Today, binders are available in nine languages.
• 2013 – The IFOPA held its 25th Anniversary Celebration and FOP Family Gathering in Orlando, Fla.
• 2014 – IFOPA hosted the first FOP Drug Development Forum for clinicians, researchers and the pharmaceutical industry
• 2015 - The IFOPA launches its first Competitive Research Grant program and awards three grants totaling $125,000, as well as the global FOP Connection Patient Registry for individuals living with FOP
• 2016 – The IFOPA hosted the 2nd FOP Drug Development Forum with 169 attendees from 38 academic institutions and 13 pharmaceutical companies. The Midwest Family Gathering brought together nearly 20 families to learn from medical and research experts, share stories, catch up and build new friendships.
Since our founding in 1988, and thanks to the generosity of fundraisers and donors, the IFOPA has funded over $10 million dollars in FOP research to find treatments and a cure!
Merritt Engel published Dr. Fred Kaplan To Receive NORD's Rare Impact Award in FOP News 2017-04-17 10:12:03 -0400
The National Organization for Rare Disorders (NORD) named Dr. Fred Kaplan among its 2017 honorees.
Merritt Engel published Two Important Ways You Can Be Part of Rare Disease Day on Feb. 28 in IFOPA News 2017-03-09 20:56:15 -0500
Easy ideas for getting involvedRead more
Merritt Engel published Erin Got Her Wish ... And Got Her Wheels! in IFOPA News 2017-03-09 20:55:26 -0500
Merritt Engel published Contribute to the new IFOPA Pinterest Boards in IFOPA News 2017-03-09 20:55:07 -0500