four diseases research:
1. Progeria:
The cause of progeria was discovered to be a point mutation in position 1824 of the LMNA gene, in which cytosine is replaced with thymine. This mutation creates a 5' cryptic splice site within exon 11, resulting in an abnormally short mature mRNA transcript. This mRNA strand, when translated, yields an abnormal variant of the prelamin A protein whose farnesyl group cannot be removed. Because its farnesyl group cannot be removed, this abnormal protein, referred to as progerin, is permanently affixed to the nuclear rim, and therefore does not become part of the nuclear lamina. Without lamin A, the nuclear lamina is unable to provide the nuclear envelope with adequate structural support, causing it to take on an abnormal shape. Since the support that the nuclear lamina normally provides is necessary for the organization of chromatin during mitosis, weakening of the nuclear lamina limits the ability of the cell to divide.
No treatments have proven effective; all treatments have little to no effect, are not permitted by the FDA, or have not passed animal trials.
Attempted treatments include reducing complications (such as performing coronary artery bypass surgery to reduce cardiovascular disease). Growth hormone treatment has also been attempted, but not produced any significant results.
2. Somnambulism:
Somnambulism, AKA sleepwalking, is caused by a delay of maturity in the central nervous system. These people are often young and outgrow it quickly, although there can be outliers. Somnambulists tend to be light sleepers, causing them to be in low states of consciousness.
As many people tend to outgrow it, there is very little treatment. The few options include only speculate methods such as hypnosis, which are not scientifically vetted at this point.
The problem with the current therapeutic method is that there really is none. as most sleepwalking goes away at puberty. For the people that it does not go away, there are few scientifically vetted treatment options. Hypnosis is an option, however it may not work. Anticipatory awakening is only a preventative measure. Sleep consultants may help, but it may not work.
3. Epidermodysplasia verruciformis:Treatment for Tree-Man Disease or Epidermodysplasia verruciformis is quite complicated and involves taking a multifaceted approach. It is important to take steps to reduce the risk of cancer, and also use techniques to improve a patient's physical appearance. Patients will have to wear protective clothing because UV light can worsen the condition. They may have to use oral drugs as well as topical retinoid creams, such as imiquimod to limit the growth of abnormal skin cells.Different surgical procedures involve freezing off warts with liquid nitrogen. Sometimes, the warts are burned with electric heating devices and excised using scalpels. Despite all these approaches, some patients develop skin cancer and require additional medical help. Sometimes, surgeons remove those cancerous warts and replace the area with a graft from non-affected area of the body. Chemotherapy and radiation treatments are used when cancer spreads to the lymph nodes. Caused by hpv (Human papillomavirus virus), hiv (human immunodeficiency virus) and is extremely rare autosomal recessive genetic hereditary skin disorder associated with a high risk of carcinoma of the skin. It is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin. The resulting uncontrolled HPV infections result in the growth of scaly macules and papules, particularly on the hands and feet.
The current cure doesn’t get rid of the internal warts and sometimes causes cancer.
A possible cures: No curative treatment against EV has been found yet. Several treatments have been suggested, and acitretin 0.5–1 mg/day for 6 months’ duration is the most effective treatment owing to antiproliferative and differentiation-inducing effects.
4.Creutzfeldt-Jakob Disease:
Creutzfeldt-Jakob disease may occur spontaneously, be inherited, or be transmitted by contact with infected tissue, such as during a transplant or from eating contaminated meat.
The current therapy alleviates pain but does not cure the disease.
Opiate drugs are used for pain treatment. Leading research indicates that the disease is caused by proteins called prions. The harmless and harmful forms of the prion are nearly identical but the harmful ones take a different folded shape than the normal protein. Researchers are looking at autopsies to see exactly what kills brain tissue so that a cure or prevention can be developed.
The cause of progeria was discovered to be a point mutation in position 1824 of the LMNA gene, in which cytosine is replaced with thymine. This mutation creates a 5' cryptic splice site within exon 11, resulting in an abnormally short mature mRNA transcript. This mRNA strand, when translated, yields an abnormal variant of the prelamin A protein whose farnesyl group cannot be removed. Because its farnesyl group cannot be removed, this abnormal protein, referred to as progerin, is permanently affixed to the nuclear rim, and therefore does not become part of the nuclear lamina. Without lamin A, the nuclear lamina is unable to provide the nuclear envelope with adequate structural support, causing it to take on an abnormal shape. Since the support that the nuclear lamina normally provides is necessary for the organization of chromatin during mitosis, weakening of the nuclear lamina limits the ability of the cell to divide.
No treatments have proven effective; all treatments have little to no effect, are not permitted by the FDA, or have not passed animal trials.
Attempted treatments include reducing complications (such as performing coronary artery bypass surgery to reduce cardiovascular disease). Growth hormone treatment has also been attempted, but not produced any significant results.
2. Somnambulism:
Somnambulism, AKA sleepwalking, is caused by a delay of maturity in the central nervous system. These people are often young and outgrow it quickly, although there can be outliers. Somnambulists tend to be light sleepers, causing them to be in low states of consciousness.
As many people tend to outgrow it, there is very little treatment. The few options include only speculate methods such as hypnosis, which are not scientifically vetted at this point.
The problem with the current therapeutic method is that there really is none. as most sleepwalking goes away at puberty. For the people that it does not go away, there are few scientifically vetted treatment options. Hypnosis is an option, however it may not work. Anticipatory awakening is only a preventative measure. Sleep consultants may help, but it may not work.
3. Epidermodysplasia verruciformis:Treatment for Tree-Man Disease or Epidermodysplasia verruciformis is quite complicated and involves taking a multifaceted approach. It is important to take steps to reduce the risk of cancer, and also use techniques to improve a patient's physical appearance. Patients will have to wear protective clothing because UV light can worsen the condition. They may have to use oral drugs as well as topical retinoid creams, such as imiquimod to limit the growth of abnormal skin cells.Different surgical procedures involve freezing off warts with liquid nitrogen. Sometimes, the warts are burned with electric heating devices and excised using scalpels. Despite all these approaches, some patients develop skin cancer and require additional medical help. Sometimes, surgeons remove those cancerous warts and replace the area with a graft from non-affected area of the body. Chemotherapy and radiation treatments are used when cancer spreads to the lymph nodes. Caused by hpv (Human papillomavirus virus), hiv (human immunodeficiency virus) and is extremely rare autosomal recessive genetic hereditary skin disorder associated with a high risk of carcinoma of the skin. It is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin. The resulting uncontrolled HPV infections result in the growth of scaly macules and papules, particularly on the hands and feet.
The current cure doesn’t get rid of the internal warts and sometimes causes cancer.
A possible cures: No curative treatment against EV has been found yet. Several treatments have been suggested, and acitretin 0.5–1 mg/day for 6 months’ duration is the most effective treatment owing to antiproliferative and differentiation-inducing effects.
4.Creutzfeldt-Jakob Disease:
Creutzfeldt-Jakob disease may occur spontaneously, be inherited, or be transmitted by contact with infected tissue, such as during a transplant or from eating contaminated meat.
The current therapy alleviates pain but does not cure the disease.
Opiate drugs are used for pain treatment. Leading research indicates that the disease is caused by proteins called prions. The harmless and harmful forms of the prion are nearly identical but the harmful ones take a different folded shape than the normal protein. Researchers are looking at autopsies to see exactly what kills brain tissue so that a cure or prevention can be developed.