What is Krabbe disease? Krabbe disease, also known as globoid cell leukodystrophy, is a rare but deadly disease. It is caused by the inability to create enough of a substance called galactosylceramidase, which is needed to make myelin. This leads to a buildup of toxic substances in cells that produce the myelin sheath and to a progressive loss of myelin that covers many nerves. Myelin acts as a protective covering for cells and nerves and without it, cells and nerves in the brain can’t function properly.
It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with
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For infants who have not yet started showing symptoms, treatment with umbilical cord blood stem cells has shown promise in enabling normal or near normal lives. The method can take place within weeks of birth. Neural deterioration is slowed down following the procedure and symptoms are less harsh. Kids and babies who have already started showing symptoms of the disease don’t profit from the treatment. Some people with late onset Krabbe disease benefit from treatment with umbilical cord stem cells even though it has a higher success rate on kids. Bone marrow stem cells can be used in place on umbilical cord blood stem cells, however they require the donor to be a perfect match. There is also less risk of immune system complications. For kids that have started showing symptoms and others not suitable for the procedure. the only treatment is to address symptoms as they
The first type of stem cell, an embryonic stem cell, is known for being able to continuously multiply, as well as for being pluripotent. They can be “derived in vitro from the blastocyst of an embryo usually left over from in vitro fertilization” (Forraz & McGuckin, 2011, p.61). Unlike other types of stem cells, embryonic stem cells have yet to be used in any kind of clinical treatment of patients. The high risks of “immune rejection” or “teratoma formation” are serious obstacles (Harris, 2009, p.182). The second type of stem cell, adult stem cells, is primarily considered to be multipotent and may be found in “specific adult human tissues” such as the skin or bone marrow, just to name a few. Over the last twenty years, the amount of scientific research and trials using adult stem cells has grown significantly, despite their lower potency than embryonic stem cells (Forraz & McGuckin, 2011, p.61). Lastly, cord blood stem cells, are technically considered to be a special type of adult stem cell, but their youthful properties give them “greater restorative and regenerative potential.” Directly following the birth of a child, these stem cells can be collected from the blood in the umbilical cord (Steenblock & Payne, 2006, p.9). Embryonic, adult, and cord blood stem cells
Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.
Krabbe disease is a disorder in the nervous system in which the patient becomes unable to function correctly. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. A large cell of a primary germ is found clustered together in the space between the skull and the brain causing it to destroy the cells. Although, this disease generally directed at infants it may also develop in an older child or adult.
A limited amount of stem cells can be extracted from after birth, but these few cells can mean a longer or improved life for someone (Bergman). In addition, people believe that harvesting cord blood cells steals the cells from the child. The umbilical cord is cut and clamped just like a typical delivery (CariCord). Delayed clamping, in which the cord is left attached to drain the blood back into the baby, still allows the afterbirth to be donated. The science behind cord blood banking is still developing because these treatments have only been performed for a little over ten years and the only way to overcome that is to move forward with research (Stem Cell). Cord blood cells hold the potential of becoming brain and heart cells and combatting serious neurological diseases. The science is young, but one out of every three hundred kids are plagued with cerebral palsy and one of every sixty-eight children battle autism (What It Is). The chance of helping people throughout the world live a better life fuels the need for an increase of support in this budding
The root causes of Krebs’ alienation is present in the story when he returns home with no excitement, no parties, no talks of war or even a warm welcome. The lack of attention for his sacrifice creates a liar out of Krebs, and even though he hates it, he cannot prevent himself from lying due to the positive reinforcement he received amongst his peers from his lies. Why should he tell the truth? No one he closely associated with was there with him in Germany. He simply could not come home with a boring story for his family.
Phenylketonuria (PKU) is an inherited disorder that causes the phenylalanine in the body to build up to unsafe levels. Phenylalanine is broken down in the body by enzymes, and with PKU, the genes needed to build the enzymes have a defect. Without these enzymes, the phenylalanine is not broken down like it’s suppose to be, and the build-up starts to occur once food with high levels of protein are digested.
PKU is passed on in a “autosomal recessive” gene. This means that a person may have one of the genes for the disease but if they have the other dominant gene they will not be affected by the disease. In the diagram ‘P’ is the dominant gene and ‘p’ is the recessive gene. People who have one recessive gene and one dominant gene ‘Pp’ are called silent carriers. The person with ‘PP’ does not have any of the PKU gene. The person with ‘pp’ has PKU. Each time two carriers reproduce the chances the baby of having PKU is 25%. The chances of them being a silent carrier is 50%. One in every about fifty people in the general population are carriers. And the chances of that carrier’s mate is a carrier is about one in 2500. PKU occurs in about one of out every 10,00 babies born in the United States. Incidents of this disease occur equally in male and female babies.
(CAUSE of DISEASE) “Creutzfeldt-Jakob disease (CJD) is a very rare disorder that damages the tissues of the brain, causing a rapid decline in mental function and muscle coordination, eventually leading to death.” (Human Illnesses).
Kartagener’s syndrome is an autosomal recessive disorder affecting the cilia within the body. Autosomal recessive means that one or more of both the parents’ genes responsible for encoding the cilia’s structure are mutated. This presentation will focus on the etiology, clinical manifestations and anatomic alterations of Kartagener syndrome while also exploring diagnostic and treatment modalities. Kartagener syndrome was diagnosed by a Swedish physician Manes Kartagener in 1933. It is a relatively rare syndrome with each child of the affected parents has a twenty-five percent chance of developing the syndrome, estimated 15,000 people in the United States have it.
Kartagener’s syndrome is a rare hereditary genetic disorder. This disorder affects the respiratory tract, middle ear, fallopian tube, and the flagella of sperm cells. This disorder starts in the embryologic phase of development. The diagram shows you the main internal structure and anything missing or deformed in the central microtubules to the dynein arms causes the protein to not properly link together.
Klinefelter syndrome (also called XXY syndrome), was found in 1942 by Dr. Harry Klinefelter and is one of the most common chromosomal disorders affecting males. An extra X chromosome is found in the cells of these affected males, meaning they have two X chromosomes instead of just one, the genotype for this disorder is XXY, a normal genotype for a male is just XY. Some affected boys will have more features of the disorder than others, some who have the syndrome could have more symptoms than others who have it. In some cases, Klinefelter syndrome is not found until a boy gets to puberty, and sometimes, men may never be diagnosed with the condition. The most common symptom of this genetic disorder is infertility. Infertility means that you are
0.78 percent of Americans a total of 2,540,460 identify as transgender(denoting or relating to a person whose sense of personal identity and gender does not correspond with their birth sex). The number of people identifying as transgender is on the rise and so is the thought that gender is determined by what the individual identifies as. However gender is determined by genetics.
Scientists and researchers believe that Human Embryonic Stem Cells hold potential cures for numerous diseases in today's society, including multiple sclerosis, Parkinson's disease, Alzheimer's disease, diabetes, Lou Gehrig's disease, Hodgkin's disease, hundreds of immune system and genetic disorders, spinal cord injuries, heart disease and just about every type of cancer. In today's world there's over a million Americans who suffer from deadly diseases, not only adults but innocent children that deserve to live a healthy life. These deadly diseases can be cured or treated in a more effective way than they are treated now with the help of the human embryonic stem cells. According to the Poll on "American views on stem cell research in the wake of the death of Ronald Reagan" which was prepared for results of America, shows that a sum of 73% highly supports and somewhat support this controversial process (Results of America, 2004). Even though this topic has brought continuous political attacks and very limited funding, Human Embryonic Stem cell research has made considerable contribution to the battle against disabilities and incurable diseases. A great example of success by using human embryonic stem cells was made by Dr. Hans Keirstead in the Roman Laboratory at UC Irvine; he restored myelin insulation around damaged nerves, returning motion to partially paralyzed rats. (Journal of Neuroscience, 2005) .
The second stage of Krabbe’s disease involves aplasia and hypoplasia, which is a defective development of the abdominal wall musculature. There is also hypertonia, which is damage to the Central Nervous System (CNS). The CNS is the brain and the spinal cord, which controls most of the functions of the body and mind. There is also visual impairment, sensorineural hearing loss (SNHL), cognitive impairment, and electromyography (EMG) abnormalities (ORDR). These symptoms vary from person to person (Wenger 2000). Some less common
Leukemia is caused when the white blood cells, or leukocytes, become infected. The way leukemia is treated is by using chemotherapy to remove all of the leukocytes and replace them with normal white blood cells. However, when chemotherapy proves to be unsuccessful, bone marrow transplants containing healthy blood cells are an alternative option. Additionally, peripheral blood stem cells are also used to treat cancers. They are similar to bone marrow transplants; but instead of being drawn from within the bone, they are drawn from blood that has been drawn from a donor. Peripheral blood stem cells are easier to obtain than bone marrow stem cells and generally less invasive, too. Umbilical cord stem cells are situated in umbilical cords, as the name implies. The umbilical cords, which are now regarded as secondary products of giving birth, are full of blood with an abundance of stem cells that can be used to develop cancer research and treat these diseases. Umbilical cord stem cells can be used to treat the same health problems that are treated by bone marrow and peripheral stem cells. In addition, the human body is less prone to rejecting these stem cells than any other, which makes them a safer option when choosing to treat any disease with stem