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Gene Therapy is the insertion of gene and biological tissues in the human body to treat disease such as cancer. This technique is very new and is still in its infancy, not ready to shower its blessings on us.But scientific breakthrough will take it a miles ahead and will make it a grand success towards the mainstream medicine.
The first approved gene therapy took place in United States at Sept14, 1990 in the National Institute of Health.It was performed on a four year old girl for genetic defect that led to immune system deficiency.
Sickle cell disease was successfully treated on mice through this disease.Moreover,blood disorder like thalassemia was also treated through this technique.
In most gene therapy studies, normal gene is inserted in order to replace the abnormal gene.A carrier molecule must be present to deliver the gene into patient’s target cells.Currently the carrier is a virus which is genetically altered to carry normal human DNA. Target cells such as patients liver or lung cells are infected with the viral vector.The vector then unloads its genetic material containing the therapeutic human gene into its target cell.Some of the different gene types of viruses used as gene therapy vectors are- retrovirus,adenovirus, herpes simplex virus.
Besides virus mediated gene therapy systems there are non viral options available too.The simplest method is the direct introduction of therapeutic DNA into its target cells.The approach is limited in its application as it can only be used where there is huge amount of DNA.
Some recent developments in Gene therapy research are to combine Nanotechnology along with gene therapy to target an destroy hard-to-reach cancer cells.Moreover, world’s finest gene therapy in Uk for inherited blindness has shown successful results in sight improvement.
Gene Thearpy will prove its far reaching effects to cure incurable diseases like Huntington Chorea within a few more years.Gene therapy will make RNA silencing a more advanced tool and thus will help the mankind.
The ability to make unlimited quantities of Red blood cells- which carry vital oxygen around the body has been a dream of medical researchers for almost half a century.Now that dream is to reality with developments in stem cell research.In principle, it states that synthetic blood will be freed from virus such as HIV, and coul also prevent shortages at blood banks and in emergency operation.
At first researchers will test human embryos left over for in vitro treatment and stimulate it with nutrients and chemicals to develop and differentiate into mature red blood cells, to find those which can develop into universal donor O negative blood group as O negative blood can be injected to anyone without the fear of tissue rejection.This precious blood is only available as it belongs to only 7% of the population.However embryonic stem cells can multiply indefinitely and can thus serve for the entire nation.
Last year researchers tried to synthesize synthetic RBCs from embryonic stem cells in a test tube and it was a major breakthrough in the ultimate goal of synthesizing industrial-scale quantities of blood.
It is found that the red blood cells do not have any nucleus, an adaptation that provides haemoglobin at the centre to carry oxygen.This means that the synthetic cells cannot develop into cancerous cells since they do not have DNA.The team of Uk hopes to apply this principle within three years an finally to market this principle within five decades.
Once this technique of transforming stem cells into Red blood cells become effective then it can produce 100 billiopn red blood cells! Ultimately scientists hope to produce portable blood factories that can be transported into disaster zones and battlefields.But this technique is still in its infancy and is about to go a miles ahead.
Huntington’s disease is a progressive neurodegenerative, adult onset, autosomal inherited disorder associated with cell loss in a specefic subset of neurons.Dr George Huntington first described this disease in 1872.It is an inherited disorder of the central nervous system caused by a dominant gene which means that everyone who inherits the gene from one of his/her parents will develop the disease and the chances are found to be 50%. This disease is devastating in nature and is prevalent at the middle age of humans.It affects muscle coordination and leads to cognitive decline and dementia.The earliest symptom of this disease is clumsiness but as the disease progresses the movements become uncontrollable.These movements include odd bodily postures.Other symptoms are forgetfulness, irritability,shrunken brain and enlarged ventricles. The main cause of this disease is reduced activity of neurotransmitter Acetylcholine and GABA which in turn affects Dopamine causes its hyperactivity.Thus Huntington Chorea is somewhat similar to Parkinsons disease where there is Dopamine under activity. Drug therapies can ease the symptoms of this disease but there may be serious side effects with these drugs. Particularly, there is no cure of this disease.However, new techniques like neural grafting may offer hope for the sufferers in the near future. A recent study revealed the fact that a gene named Huntingtin codes for a different form of the protein whose presence results in damaging specific areas of the brain. The exact way this happens is not fully understood.Genetic testing can be performed at all stages of the development, even before the onset of symptoms.This raises several ethical debates regarding the age at which an individual is considered mature enough to choose testing. Symptoms of this disease commonly become noticeable between 35-44 years, it can even start from infancy.In the early stages there is changes in cognition an physical ability.Especially executive functions like planning, abstract thinking are impaired. Huntington’s disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat of an affected parent.Since penetrance of the mutation is very high, those who have the mutated copy of the gene, will have the disease. There is no cure for Huntington’s disease but there are treatments available to reduce the severity of some of its symptoms.Tetrabenazine was successfully developed to reduce the severity of chorea, other drugs that help to reduce chorea are neuroleptics and benzodiazepines. Although there have been very few studies of exercises and therapies that help to rehabilitate cognitiv symptoms but there lies an evidence for usefulnesses of speech therapy, occupational therapy and physical therapy.However more rigorous studies are needed by health authorities to endorse them.
The early symptoms of this disease is inability to acquire new memories,difficulty in recalling recent updates.When this disease is suspected, the diagnosis is confirmed with behavioural assessments and cognitive tests often followed by a brain scan. As the disease advances, in its mature stage symptoms include confusion, irritability, aggression and long term memory loss.The mean life expectancy of this disease include seven years.Fewer individuals live upto fourteen years after diagnosis.
An ongoing research study indicates that the cause and progress of this disease is entanglement of nerves in the brain and thus the nerves get bundled up and forms a mass of pile.Yet there are no such treatment which can delay and stop the progression of this disease.
Although it is irrelevant and do not have a serious link with reduced degeneration but it is still recommended that mental stimulation,exercise and a balanced diet are a way ahead to prevent and sensibly manage the disease to some extent.
The course of this disease is broadly classified into four stages- predementia, early dementia, moderate dementia and advanced dementia alongwith progressive patterns of cognitive and functional impairments.In predementia apathy and impairment in abstract thinking is mostly observed.While in early dementia there is difficulty in language and perception.Behavioural and neuropsychiatric changes are prevalent in moderate dementia.
Amongst all the four, the most critical one is the final stage,i.e advanced dementia where people becomes almost bedridden, they cant even perform the simplest task without assistance like eating.Moreover language is reduced to words and eventually leads to complete speech loss.They can only communicate by returning emotional signals.
The root cause of this disease is reduced synthesis of neurotransmitter acetylcholine. Other cholinergic factors are initiation of large scale aggregation of amyloid which leads to neuroinflammation.
A 2004 study revealed the fact that inside nerve cell bodies there are formation of neurofabrillary tangles which causes the microtubules to disintegrate and thus collapsing the neuron’s transport system.This may result in malfunction of biochemical communication between neurons and later can cause death of cells.
A recent study suggested that the cause of this disease lies on the underlying mechanism of age related myelin breakdown in the brain.Demyelination leads to axonal transport disruption leading to loss of neurone that become stale.
Alzheimers disease is clinically diagnosed from patient history and presence of characteristic neurological and neuropsychological features .Advanced medical imaging with computed tomography(CT) or magnetic resonance imaging(MRI) and single positron emission computed tomography(SPECT).The diagnosis can be confirmed by high accuracy post mortem when brain material is available and can be examined histologically.
Although there is no definitive measure to eradicate the disease but Cardiovascular risk factors such as hypercholestremia, hypertension,smoking are associated with higher risk of onset of this disease.Moreover, long term usage of non steroidal anti inflammatory drug is also associated with this disease. There is no cure of this dreaded disease, available treatment offer small symptomatic benefit but do not give long term effect and remain palliative in nature.
Malaria is a mosquito borne infectious disease which is very common and is found at every places.It is caused by a eukaryotic protist belonging to the genus Plasmodium.There are five species of this protist namely Plasmodium vivax,Plasmodium falciparum, Plasmodium ovale, Plasmodium malarie and Plasmodium knowlesi.Out of which, Plasmodium falciparum is most fatal in nature since it causes malignant malaria.Although all these species can infect human beings but they do so in a milder dose.
Malaria is found in mainly tropical and sub-tropical regions inluding Asia and Africa but it is mainly prone to the Sahara desert, where children gets affected to this disease to a large extent.Almost every year there is a huge number of death toll due to malaria at about 350-500 million people each year.
The major symptoms of this disease include perpetual coldness followed by shiver which lasts for about four to six hours occuring every two days.Moreover,prolonged vomiting and anaemia also occurs sometimes alongwith convulsions.
Consequences of several malaria include coma and even death sometimes.People suffer from Splenomegaly(enlarged spleen), hyperglycaemia and Hepatomegaly(enlarged liver) too.
According to the enlistment of WHO, it states that choloroquine, mefloquine and primaquine are the most useful antimalarial drug for its prevention.
There are several methods which are used to prevent the spread of this disease including prophylactic drugs, mosquito eradication, insect repellants and use of various kinds of insecticides.These are mainly used in places where malaria is endemic.If all the countries raise good amount of funds in order to eradicate the spread of this disease for human welfare, then it will be a boon for mankind.
