Jeans For Genes Day 2017
22 Sep 2017
Jeans For Genes Day 2017
What is Jeans For Genes Day?
Jeans for Genes Day is the annual fundraising campaign for Genetic Disorders UK, the national charity that supports individuals and families affected by a genetic disorder. This year it is held on Friday 22nd September 2017, the purpose of this is to help disorder-specific charities and patient groups. This is done by delivering inspiring projects and support services for children who are affected by a genetic disorder in the UK. The money raised provides grants for day-to-day support, equipment, nursing and patient support services, and events bringing children together and their families who are affected by genetic disorders.
There are between 4000 to 6000 diagnosed genetic disorders. It is estimated that 1 in 25 children are affected by a genetic disorder and therefore 30,000 babies and children are newly diagnosed in the UK each year. Some genetic disorders are diagnosed immediately at birth, whilst others are diagnosed at different stages of childhood, sometimes into adulthood.
How Do Jeans For Genes Day Help Support Genetic Disorders?
They get involved in a variety of different activities with charities including Primary schools who bring the whole school together, raising money for children with genetic disorders. They also do the same with Secondary schools. They also get involved with different workplaces and nurseries to raise money for Genetic Disorders UK. This gives people the opportunity to wear jeans to work making a donation of £2 and is considered a great way to bring a team together, helps to raise profiles of the organisation highlighting the fundraising annual report. They also use educational resources to raise awareness of genetics with teachers in the classroom supporting children with genetic disorders and ensuring they have the best education possible and are equally treated by everyone. They also put together fundraising ideas from a variety of different people in schools, workplaces such as baking cakes, holding raffles, presentations to raise awareness and to make sure that the resources all available to help meet the needs of people who suffer from genetic disorders.
What Is A Genetic Disorder?
A genetic disorder is a disease caused by an abnormality in an individual’s DNA. This can be forms of small abnormalities due to a single-based mutation in one gene, or it can involve the addition or subtraction of entire chromosomes. There are three main types which are single gene disorders, chromosomal abnormalities, and multifactorial disorders.
What Are Single Gene Disorders?
This is when one certain gene is known to cause a disease. This is any genetic disorder caused by a change affecting only one gene. There are many different disorders relating to single gene including cystic fibrosis, huntingtons diseaseadenosine deaminase deficiency and many others.
What Is Cystic Fibrosis?
This is a genetic disorder affecting the respiratory and digestive systems. People with cystic fibrosis inherit a defective gene on Chromosome 7 called cystic fibrosis transmembrane conductance regulator. The protein produced by this gene normally helps sodium chloride move in and out of the cells. If this protein does not function correctly, the movement is blocked and abnormally thick sticky mucus is produced on the outside of the cell. The cells most affected by this are the lung cells. The mucus clogs the airways of the lungs, increasing the risk of infection by bacteria. This thick mucus also blocks ducts in the pancreas, so digestive enzymes cannot enter the intestines. Without these enzymes, the intestines cannot properly digest food. People who have this disorder often do not get the right nutrients they need to grow normally. Cystic fibrosis also affects the sweat glands; too much salt is lost through sweat, which can disrupt the delicate balance of the minerals in the body.
What are the Causes of Cystic Fibrosis?
- This is a recessive disorder which means that both parents must pass on the defective gene for any of their children to get the disease. If a child inherits only one copy of the faulty gene, he/she could be a carrier. Carriers don’t actually have the disease, however; it is possible they could pass it on to their children.
What are the Symptoms of Cystic Fibrosis?
- Coughing or wheezing
- Respiratory illnesses (pneumonia or bronchitis)
- Low weight
- Salty-tasting skin
- Greasy stools
- Due to the lungs being clogged and repeatedly infected, the lung cells do not last as long as they should.
What is a Chromosomal Disorder?
What is a Chromosomal Disorder?
A chromosomal disorder is a missing, extra or irregular portion of chromosomal DNA. This is split into two categories:
- Numerical abnormalities- When an individual is missing one of the chromosomes from a pair, the condition is called monosomy. When an individual has more than two chromosomes instead of one pair, this condition is called trisomy.
- Structural abnormalities: A chromosomes structure can be altered in many different ways including:
- Deletions: A portion of the chromosome is missing or deleted.
- Duplications: A portion of the chromosome is duplicated, resulting in extra genetic material.
- Translocations: A portion of one chromosome is transferred into another chromosome. In a reciprocal translocation, segments from two different chromosomes have been exchanged. In a Robertsonian translocation, an entire chromosome has attached to another at the centromere.
- Inversions: A portion of the chromosome has broken off, turned upside down, and re-attached. As a result, the genetic material is inverted.
- Rings: A portion of a chromosome has broken off and formed a circle or a ring. This can happen with or without loss of genetic material.
What are the Causes of Chromosomal Disorders?
Chromosome disorders usually occur when there is an error in cell division. They mostly occur as an accident in the egg or the sperm. In these cases, the abnormality is present in every cell of the body. Some abnormalities can be inherited from a parent.
The causes of chromosomal disorders include the following two types of cell division:
- Mitosis: This results in two cells that are duplicates of the original cell. One cell with 46 chromosomes divides and becomes two cells with 46 chromosomes each. This kind of cell division occurs throughout the body, except in the reproductive organs. This is the way most of the cells that make up our body are made and replaced.
- Meiosis: This results in cells with half a number of chromosomes 23 instead of 46 the normal number. This is the type of cell division that occurs in the reproductive organs, resulting in the eggs and the sperm.
- Other factors which can increase the risk of chromosomal abnormalities include
- Maternal Age: Women are born with all the eggs they will ever have. Some researchers believe that errors can crop up in the eggs genetic material as they age. Older women are at higher risk of giving birth to babies with chromosomal abnormalities than younger women. Men produce new sperm throughout their lives; paternal age does not increase the risk of chromosome abnormalities.
There are many different chromosomal disorders including Down syndrome, Turner syndrome, 47XXY (Klinefelter syndrome) and many others.
What is Down Syndrome?
This is a developmental disorder caused by an extra copy of chromosome 21 which means that individuals will have three copies of each of its genes instead of two; this makes it more difficult for the cells to properly control how much protein is made.
What are the Causes of Down Syndrome?
Nondisjunction: This happens when a pair of chromosomes fail to separate during sperm formation. When the egg unites with a normal sperm to form an embyro, the embryo ends up with three copies of chromosome 21 instead of the normal two. The extra chromosome is then copied into every cell as the baby develops. This seems to occur more frequently in older people which explains why the risk of a mother over the age of 35 having a baby with down syndrome is a higher possibility.
What are the Symptoms of Down Syndrome?
- Distinct facial features: a flat face, a small broad nose, abnormally shaped ears, a large tongue, upward slanting eyes with small folds of skin in the corners
- Increased risk of developing a number of medically significant problems such as respiratory infections, blocked digestive tract, leukaemia, heart defects, hearing loss, hypothyroidism, and eye abnormalities.
- Slow development with learning difficulties, learning to walk, talk and care for themselves
What are Multifactorial Disorders?
Common medical problems such as heart disease, diabetes, obesity do not have a single genetic cause so therefore they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. This is known as complex or multifactorial disorders. Complex disorders often cluster in families; however, they do not have a clear cut pattern of inheritance. This makes it more difficult to determine a person’s risk of inheriting or passing on these disorders. They do not have a specific cause.