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Progeria Research Foundation
The Progeria Research Foundation (PRF) is a non-profit organization dedicated to developing treatments and, ultimately, a cure for progeria, a congenital disorder. The Foundation was established in 1999 by the family and friends of Sam Berns, a child with progeria, including Dr. Leslie Gordon and Dr. Scott Berns, his parents, and Audrey Gordon, his aunt.Moore, Keith. Old at Age 3: The Story of Zachary Moore' Old At Age 3, 2007 , pp. 11–13 From their website, the Foundation's mission statement is: "To discover treatments and the cure for Progeria and its aging related disorders." In 2003, The Progeria Research Foundation helped to discover the gene mutation that causes progeria and developed a diagnostic test for it. In 2020 the American Food and Drug Administration approved the use of lonafarnib Lonafarnib, sold under the brand name Zokinvy, is a medication used to reduce the risk of death due to Hutchinson-Gilford progeria syndrome and for the treatment of certain processing- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nonprofit Organization
A nonprofit organization (NPO) or non-profit organisation, also known as a non-business entity, not-for-profit organization, or nonprofit institution, is a legal entity organized and operated for a collective, public or social benefit, in contrast with an entity that operates as a business aiming to generate a profit for its owners. A nonprofit is subject to the non-distribution constraint: any revenues that exceed expenses must be committed to the organization's purpose, not taken by private parties. An array of organizations are nonprofit, including some political organizations, schools, business associations, churches, social clubs, and consumer cooperatives. Nonprofit entities may seek approval from governments to be tax-exempt, and some may also qualify to receive tax-deductible contributions, but an entity may incorporate as a nonprofit entity without securing tax-exempt status. Key aspects of nonprofits are accountability, trustworthiness, honesty, and openness to ev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Progeria
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome. A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the Nucleus of the cell together. When this gene gets mutated an abnormal form of lamin A protein called Progerin is produced. Progeroid syndromes are a group of diseases that causes individuals to age faster than usual, leading to them appearing older than they actually are. Patients born with progeria typically live to an age of mid-teens to early twenties. Severe cardiovascular complications usually develop by puberty, resulting in death. Signs and symptoms Children with progeria usually develop the first symptoms during their first few months of life. The earliest symptoms may include a failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become apparent, usually around 18–24 months. Limite ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sam Berns
Sampson Gordon Berns (October 23, 1996 – January 10, 2014) was an American activist with progeria, an extremely rare and fatal disease that causes the body to age rapidly. Sam helped raise awareness about the disease and he was the subject of the HBO documentary '' Life According to Sam'', which was first screened in January 2013. Progeria Research Foundation His parents, Scott Berns and Leslie Gordon, both pediatricians, received their son's diagnosis when he was less than two years old. Roughly a year later, they established the Progeria Research Foundation in an effort to increase awareness of the condition, to promote research into the underlying causes of and possible treatments for the disease. Moreover, they offer resources for the support of those with progeria and their families. Honors Boston Bruins On November 9, 2013, at a home game for the Boston Bruins, Berns helped host Progeria Awareness Night, sat with the team as an assistant equipment manager, and droppe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultima ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diagnostic Test
A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic testing, chemical and cellular analysis, relating to clinical chemistry and molecular diagnostics, are typically performed in a medical setting. Types of tests By purpose Medical tests can be classified by their purposes, the most common of which are diagnosis, screening and evaluation. Diagnostic A diagnostic test is a procedure performed to confirm or determine the presence of disease in an individual suspected of having a disease, usually following the report of symptoms, or based on other medical test results. This includes posthumous diagnosis. Examples of such tests are: * Using nuclear medicine to examine a patient suspected of having a lymphoma. * Measuring the blood sugar in a person suspected of having diabetes mellitus afte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lonafarnib
Lonafarnib, sold under the brand name Zokinvy, is a medication used to reduce the risk of death due to Hutchinson-Gilford progeria syndrome and for the treatment of certain processing-deficient progeroid laminopathies in people one year of age and older. The most common side effects included nausea vomiting, headache, diarrhea, infection, decreased appetite and fatigue. Lonafarnib was approved for medical use in the United States in November 2020, and in the European Union in July 2022. The U.S. Food and Drug Administration (FDA) considers it to be a first-in-class medication. Medical uses Lonafarnib is indicated to be used to reduce the risk of death due to Hutchinson-Gilford progeria syndrome and for the treatment of certain other processing-deficient progeroid laminopathies in people one year of age and older. Contraindications Lonafarnib is contraindicated for co-administration with strong or moderate CYP3A inhibitors and inducers, as well as midazolam and certain c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Organizations Established In 1999
An organization or organisation (Commonwealth English; see spelling differences), is an entity—such as a company, an institution, or an association—comprising one or more people and having a particular purpose. The word is derived from the Greek word ''organon'', which means tool or instrument, musical instrument, and organ. Types There are a variety of legal types of organizations, including corporations, governments, non-governmental organizations, political organizations, international organizations, armed forces, charities, not-for-profit corporations, partnerships, cooperatives, and educational institutions, etc. A hybrid organization is a body that operates in both the public sector and the private sector simultaneously, fulfilling public duties and developing commercial market activities. A voluntary association is an organization consisting of volunteers. Such organizations may be able to operate without legal formalities, depending on jurisdiction, in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
1999 Establishments In The United States
File:1999 Events Collage.png, From left, clockwise: The Death and state funeral of King Hussein, funeral procession of King Hussein of Jordan in Amman; the 1999 İzmit earthquake kills over 17,000 people in Turkey; the Columbine High School massacre, one of the first major List of school shootings in the United States by death toll, school shootings in the United States; the Year 2000 problem ("Y2K"), perceived as a major concern in the lead-up to the year 2000; the Millennium Dome opens in London; online music downloading platform Napster is launched, soon a source of Online piracy, online piracy; NASA loses both the Mars Climate Orbiter and the Mars Polar Lander; a destroyed t-55, T-55 tank near Prizren during the Kosovo War., 300x300px, thumb rect 0 0 200 200 Death and state funeral of King Hussein rect 200 0 400 200 1999 İzmit earthquake rect 400 0 600 200 Columbine High School massacre rect 0 200 300 400 Kosovo War rect 300 200 600 400 Year 2000 problem rect 0 400 200 600 Mars ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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