A rare disease is a disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold.
An orphan drug is a pharmaceutical agent that is developed to treat certain rare medical conditions. An orphan drug would not be profitable to produce without government assistance, due to the small population of patients affected by the conditions. The conditions that orphan drugs are used to treat are referred to as orphan diseases. The assignment of orphan status to a disease and to drugs developed to treat it is a matter of public policy that depends on the legislation of the country.
Dyslipidemia is an abnormal amount of lipids in the blood. Dyslipidemia is a risk factor for the development of atherosclerotic cardiovascular disease (ASCVD). ASCVD includes coronary artery disease, cerebrovascular disease, and peripheral artery disease. Although dyslipidemia is a risk factor for ASCVD, abnormal levels don't mean that lipid lowering agents need to be started. Other factors, such as comorbid conditions and lifestyle in addition to dyslipidemia, is considered in a cardiovascular risk assessment. In developed countries, most dyslipidemias are hyperlipidemias; that is, an elevation of lipids in the blood. This is often due to diet and lifestyle. Prolonged elevation of insulin resistance can also lead to dyslipidemia. Likewise, increased levels of O-GlcNAc transferase (OGT) may cause dyslipidemia.
Roswell Park Comprehensive Cancer Center is a cancer research and treatment center located in Buffalo, New York. Founded by surgeon Roswell Park in 1898, the center was the first in the United States to specifically focus on cancer research. The center is usually called Roswell Park in short. The center, which conducts clinical research on cancer as well as the development new drugs, provides advanced treatment for all forms of adult and pediatric cancer, and serves as a member of the National Comprehensive Cancer Network. Roswell Park Comprehensive Cancer Center is as of 2019, the only upstate New York facility to hold the National Cancer Institute designation of "comprehensive cancer center".
Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.
Pegylated interferon alfa-2b is a drug used to treat melanoma, as an adjuvant therapy to surgery. Also used to treat hepatitis C, it is no longer recommended due to poor efficacy and adverse side-effects. Subcutaneous injection is the preferred delivery method.
The State University of New York Upstate Medical University is a public medical school in Syracuse, New York. Founded in 1834, Upstate is the 15th oldest medical school in the United States and is the only medical school in Central New York. The university is part of the State University of New York (SUNY) system.
ClinicalTrials.gov is a registry of clinical trials. It is run by the United States National Library of Medicine (NLM) at the National Institutes of Health, and holds registrations from over 444,000 trials from 221 countries.
Haemochromatosis type 3 is a type of iron overload disorder associated with deficiencies in transferrin receptor 2. It exhibits an autosomal recessive inheritance pattern. The first confirmed case was diagnosed in 1865 by French doctor Trousseau. Later in 1889, the German doctor von Recklinghausen indicated that the liver contains iron, and due to bleeding being considered to be the cause, he called the pigment "Haemochromatosis." In 1935, English doctor Sheldon's groundbreaking book titled, Haemochromatosis, reviewed 311 patient case reports and presented the idea that haemochromatosis was a congenital metabolic disorder. Hereditary haemochromatosis is a congenital disorder which affects the regulation of iron metabolism thus causing increased gut absorption of iron and a gradual build-up of pathologic iron deposits in the liver and other internal organs, joint capsules and the skin. The iron overload could potentially cause serious disease from the age of 40–50 years. In the final stages of the disease, the major symptoms include liver cirrhosis, diabetes and bronze-colored skin. There are four types of hereditary hemochromatosis which are classified depending on the age of onset and other factors such as genetic cause and mode of inheritance.
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. CDA may be transmitted by both parents autosomal recessively or dominantly.
The National Institute for Health and Care Research (NIHR) is the British government’s major funder of clinical, public health, social care and translational research. With a budget of over £1.2 billion in 2020–21, its mission is to "improve the health and wealth of the nation through research". The NIHR was established in 2006 under the government's Best Research for Best Health strategy, and is funded by the Department of Health and Social Care. As a research funder and research partner of the NHS, public health and social care, the NIHR complements the work of the Medical Research Council. NIHR focuses on translational research, clinical research and applied health and social care research.
The Orphanet Journal of Rare Diseases is a peer-reviewed open access medical journal covering research on rare diseases. It was established in 2006 and the editor-in-chief is Francesc Palau. It is an official journal of Orphanet and is published by BioMed Central, which is part of Springer Nature.
Arcturus Therapeutics is an American RNA medicines biotechnology company focused on the discovery, development and commercialization of therapeutics for rare diseases and infectious diseases. Arcturus has developed a novel, potent, and safe RNA therapeutics platform called Lunar, a proprietary lipid-enabled delivery system for nucleic acid medicines including small interfering RNA (siRNA), messenger RNA (mRNA), gene editing RNA, DNA, antisense oligonucleotides (ASO), and microRNA.
The ICD coding for rare diseases is the International Classification of Diseases code used for the purpose of documenting rare diseases. It is important for health insurance reimbursement, administration, epidemiology, and research. Of the approximately 7,000 rare diseases, only about 500 have a specific code. However, more than 5400 rare diseases are included in ICD-11 and can be recorded using an ICD-11 URI. An ICD code is needed for a person's medical records—it is important for health insurance reimbursement, administration, epidemiology, and research. Finding the best ICD code for a patient who has a rare disease can be a challenge.
Mustang Bio is a clinical-stage biopharmaceutical company founded in 2015 and headquartered in Worcester, MA, U.S. Operating as a partner company of Fortress Biotech, Mustang Bio develops CAR-T immunotherapies and gene therapies for multiple diseases, including hematologic cancers, solid tumors, and X-linked severe combined immunodeficiency (X-SCID).
Anavip is the trade name of a snake antivenin indicated for the management of adult and pediatric patients with North American rattlesnake envenomation. As defined by the FDA, the proper name is crotalidae immune F(ab')2 (equine). It is manufactured by Instituto Bioclon for Rare Disease Therapeutics in the United States.
Soberana 02 or Soberana 2, technical name FINLAY-FR-2, is a COVID-19 vaccine produced by the Finlay Institute, a Cuban epidemiological research institute. The vaccine is known as PastoCovac in Iran, where it has been developed in collaboration with the Pasteur Institute of Iran.
Lyda Elena Osorio Amaya is a Colombian physician, epidemiologist and infectious disease specialist. She is an associate professor at the Universidad del Valle, and a researcher at the Centro Internacional de Entrenamiento e Investigaciones Médicas (CIDEIM) in Cali, Valle del Cauca. Osorio's research has focused mainly on vector-borne diseases like malaria, leishmaniasis, Zika and dengue fever. She has also played a role in Colombia's response against COVID-19.
FAKHRAVAC is a COVID-19 vaccine developed in Iran by the Organization of Defensive Innovation and Research, a subsidiary of Iran's Ministry of Defense. It is the third Iranian COVID-19 vaccine reaching clinical trials. It is currently in phase III. It has received emergency use authorization in Iran on 9 September 2021.
Regenerative Medicine Advanced Therapy (RMAT) is a designation given by the Food and Drug Administration to drug candidates intended to treat serious or life-threatening conditions under the 21st Century Cures Act. A RMAT designation allows for accelerated approval based surrogate or intermediate endpoints.
