Alcoholism is the continued drinking of alcohol despite it causing problems. Some definitions require evidence of dependence and withdrawal. Problematic use of alcohol has been mentioned in the earliest historical records, the World Health Organization (WHO) estimated there were 283 million people with alcohol use disorders worldwide as of 2016. The term alcoholism was first coined in 1852, but alcoholism and alcoholic are stigmatizing and discourage seeking treatment, so clinical diagnostic terms such as alcohol use disorder or alcohol dependence are used instead.
Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. It is one of the most common degenerative cerebral diseases of infancy. It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17.
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. This is then followed by seizures, hearing loss, and inability to move, with death usually occurring by the age of three to five. Less commonly, the disease may occur later in childhood, adolescence, or adulthood. These forms tend to be less severe, but the juvenile form typically results in death by age 15.
A rare disease is a disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases.
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:
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.
Dor Yeshorim also called Committee for Prevention of Jewish Genetic Diseases, is a nonprofit organization that offers genetic screening to members of the Jewish community worldwide. Its objective is to minimize, and eventually eliminate, the incidence of genetic disorders common to Jewish people, such as Tay–Sachs disease. Dor Yeshorim is based in Brooklyn, New York, but has offices in Israel and various other countries.
Newborn screening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the disease and prevent or ameliorate the clinical manifestations. NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guthrie also pioneered the collection of blood on filter paper which could be easily transported, recognizing the need for a simple system if the screening was going to be done on a large scale. Newborn screening around the world is still done using similar filter paper. NBS was first introduced as a public health program in the United States in the early 1960s, and has expanded to countries around the world.
Canadian Blood Services is a non-profit charitable organization that is independent from the Canadian government. The Canadian Blood Services was established as Canada's blood authority in all provinces and territories except for Quebec in 1998. The federal, provincial and territorial governments created the Canadian Blood Services through a memorandum of understanding. Canadian Blood Services is funded mainly through the provincial and territorial governments.
The GM2 gangliosidoses are a group of three related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names: Tay–Sachs disease, AB variant, and Sandhoff disease.
Public health genomics is the use of genomics information to benefit public health. This is visualized as more effective preventive care and disease treatments with better specificity, tailored to the genetic makeup of each patient. According to the Centers for Disease Control and Prevention (U.S.), Public Health genomics is an emerging field of study that assesses the impact of genes and their interaction with behavior, diet and the environment on the population's health.
Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks.
The National Organization for Rare Disorders (NORD) is an American non-profit organization aiming to provide support for individuals with rare diseases by advocating and funding research, education, and networking among service providers. It was founded in 1983 by Abbey Meyers, along with individuals and rare diseases leaders of rare disease support groups, and it is a 501(c)(3) tax exempt organization.
Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. The date is chosen because in leap years it is February 29, the rarest date. The European Organisation for Rare Diseases established the day in 2008 to raise awareness for unknown or overlooked illnesses. According to that organization, treatment for many rare diseases is insufficient, as are the social networks to support individuals with rare diseases and their families; furthermore, while there were already numerous days dedicated to individuals with specific diseases, there had previously not been a day for representing those affected by rare diseases. In 2009, Rare Disease Day went global as the National Organization for Rare Disorders mobilized 200 rare disease patient advocacy organizations in the United States while organizations in China, Australia, Taiwan, and Latin America also lead efforts in their respective countries to coordinate activities and promote the day.
EURORDIS-Rare Diseases Europe (EURORDIS) is a non-governmental patient-driven alliance of patient organisations and individuals active in the field of rare diseases that promotes research on rare diseases and commercial development of orphan drugs. EURORDIS is dedicated to improving the quality of life of all people living with rare diseases in Europe. It was founded in 1997; it is supported by its members and by the French Muscular Dystrophy Association (AFM), the European Commission, corporate foundations and the health industry.
The medical genetics of Jews have been studied to identify and prevent some rare genetic diseases that, while still rare, are more common than average among people of Jewish descent. There are several autosomal recessive genetic disorders that are more common than average in ethnically Jewish populations, particularly Ashkenazi Jews, because of relatively recent population bottlenecks and because of consanguineous marriage. These two phenomena reduce genetic diversity and raise the chance that two parents will carry a mutation in the same gene and pass on both mutations to a child.
The Kennedy Krieger Institute is a nonprofit, 501(c)(3) tax-exempt, Johns Hopkins affiliate located in Baltimore, Maryland, that provides in-patient and out-patient medical care, community services, and school-based programs for children and adolescents with learning disabilities, as well as disorders of the brain, spinal cord, and musculoskeletal system. The Institute provides services for children with developmental concerns mild to severe and is involved in research of various disorders, including new interventions and earlier diagnosis.
Henri A. Termeer was a Dutch biotechnology executive and entrepreneur who is considered a pioneer in corporate strategy in the biotechnology industry for his tenure as CEO at Genzyme. Termeer created a business model adopted by many others in the biotech industry by garnering steep prices— mainly from insurers and government payers— for therapies for rare genetic disorders known as orphan diseases that mainly affect children. Genzyme uses biological processes to manufacture drugs that are not easily copied by generic-drug makers. The drugs are also protected by orphan drug acts in various countries which provides extensive protection from competition and ensures coverage by publicly funded insurers. As CEO of Genzyme from 1981 to 2011, he developed corporate strategies for growth including optimizing institutional embeddedness nurturing vast networks of influential groups and clusters: doctors, private equity, patient-groups, insurance, healthcare umbrella organizations, state and local government, and alumni. Termeer was "connected to 311 board members in 17 different organizations across 20 different industries" He has the legacy of being the "longest-serving CEO in the biotechnology industry.
Inebilizumab, sold under the brand name Uplizna, is a medication for the treatment of neuromyelitis optica spectrum disorder (NMOSD) in adults. Inebilizumab is a humanized mAb that binds to and depletes CD19+ B cells including plasmablasts and plasma cells.
