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A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. A general lack of coordination and an unsteady gait often follow. It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea. As the disease advances, uncoordinated, involuntary body movements of chorea become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia, depression, apathy, and impulsivity at times. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age, and can start at any age but are usually seen around the age of 40. The disease may develop earlier in each successive generation. About eight percent of cases start before the age of 20 years, and are known as juvenile HD, which typically present with the slow movement symptoms of Parkinson's disease rather than those of chorea.
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.
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. It is caused by a buildup of large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides) in the body's lysosomes.
A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms are variable and may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure.
Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation. Nervous system problems, such as hearing loss, poor coordination, loss of intellectual function and seizures, may also occur. Complications include a high risk of skin cancer, with about half having skin cancer by age 10 without preventative efforts, and cataracts. There may be a higher risk of other cancers such as brain cancers.
Heřmanský–Pudlák syndrome is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and storage of an abnormal fat-protein compound. It is thought to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.
The Livestock Conservancy, formerly known as the American Livestock Breeds Conservancy (ALBC) and prior to that, the American Minor Breeds Conservancy, is a nonprofit organization focused on preserving and promoting rare breeds, also known as "heritage breeds" of livestock. Founded in 1977, through the efforts of livestock breed enthusiasts concerned about the disappearance of many of the US's heritage livestock breeds, The Livestock Conservancy was the pioneer livestock preservation organization in the United States, and remains a leading organization in that field. It has initiated programs that have saved multiple breeds from extinction, and works closely with similar organizations in other countries, including Rare Breeds Canada. With 3,000 members, a staff of eleven and a 19-member board of directors, the organization has an operating budget of over a million dollars.
Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head, small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.
Jeans for Genes Day is a national fundraiser held in Australia and the United Kingdom. The two fundraisers are not associated with one another and raise money for different organisations.
Global Hand washing Day (GHD) is an international hand washing promotion campaign to motivate and mobilize people around the world to improve their hand washing habits. Washing hands at critical points both during the day and washing with soap are important. In 2008, Global Handwashing Day was celebrated for the first time. This day aims to make people around the world aware of the importance of washing their hands with soap in order to prevent diseases and infections. To commemorate this special day, over 120 million children in 70 countries were encouraged to practice handwashing with soap. Since then, the movement has built momentum, garnering support from various stakeholders such as governments, schools, NGOs, and private firms.
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 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.
Autism Speaks Inc. is a non-profit autism awareness organization and the largest autism research organization in the United States. It sponsors autism research and conducts awareness and outreach activities aimed at families, governments, and the public. It was founded in February 2005 by Bob Wright and his wife Suzanne, a year after their grandson Christian was diagnosed with autism. The same year as its founding, the organization merged with Autism Coalition for Research and Education. It then merged with the National Alliance for Autism Research in 2006 and Cure Autism Now in 2007.
CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB) is a scientific research institute devoted primarily to biological research. It is a part of Council of Scientific and Industrial Research (CSIR), India.
Sharon F. Terry is a health advocate in San Diego, California, United States. She co-founded PXE International when her children were diagnosed with pseudoxanthoma elasticum (PXE) in 1994. Her TEDMED talk from 2017 has been viewed more than a million times, and was the subject of the TED Radio Hour. In 2009, she was elected an Ashoka Fellow for her entrepreneurial work in engagement and the development of interventions for genetic conditions.
A health campaign is a type of media campaign which attempts to promote public health by making new health interventions available. The organizers of a health campaign frequently use education along with an opportunity to participate further, such as when a vaccination campaign seeks both to educate the public about a vaccine and provide the vaccine to people who want it. When a health campaign has international relevance it may be called a global health campaign.
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.
The National Bleeding Disorders Foundation (NBDF) is a United States patient advocacy organization for the care and treatment of inheritable blood and bleeding disorders such as hemophilia and von Willebrand disease. Founded in 1948, NBDF, then known as the National Hemophilia Foundation, helps secure funding for treatment centers, and develops national guidelines for treatment and health care policy. The organization also serves as a central point for information on the disorders.
References
- ↑ "Rare Disease Day spotlighted Monday". Orange County Register. February 26, 2011. Retrieved 24 August 2012.
- ↑ "They'll be wearing Jeans for Genes". NorthJersey.com. February 24, 2012. Retrieved 24 August 2012.
- ↑ "RemedyMD and the Children's Rare Disease Network Announce Plan to Give Away Free Rare Disease Research Registry Valued up to $50,000 via Contest". February 25, 2011. Genetic Engineering & Biotechnology News. Retrieved June 6, 2011.