Essay Example on Gene is a unit of heredity made up of DNA and RNA Sequences









It plays an important role in reproduction hence makes what we are and our features like eye colour skin colour hair colour height etc The complete set of 23 human chromosomes is called genome This is composed of many base pairs Sometimes variation in the DNA sequence occurs When the genome is copied to make new cell a single nucleotide base pair gets deleted repeated or replaced This occurring is known as SNP Single Nucleotide Polymorphisms This alteration in the gene accounts for differences in appearance Some SNP can also lead to potential diseases condition such as Osteoporosis or an individual being affected by certain drugs Single gene disorders are inherited in recognizable patterns autosomal dominant autosomal recessive and X linked Multifactorial inheritance also known as complex or polygenic inheritance caused by combination of environmental factors and mutation in multiple genes Cystic Fibrosis and Sickle Cell Anaemia are caused when both parent pass on the gene for the disorder Huntington's diseases caused by a single dominant genes which either parent can pass on to their child As there are no such cure for these diseases however few disorders are treated with gene therapy which includes drugs nutritional supplements surgeries or combination of all Cytogenetic analyses the number and structure of human and animal chromosomes 

This is particularly important for medical diagnostic and scientific research for gene ordering and mapping Changes in the chromosomes that can cause problem in growth development and the body functions can be studied with in Disorder in the genes that occur regardless of environmental influence such as are genetically determined disorders This means that individuals who inherits the gene or genes is certain to develop the disorder regardless of the environmental factors Also known as the CAS system is a tool for cutting DNA at its targeted location It is comparable to Photoshop as it edits genes and help regulating replaces faulty genes possible to cure genetic disorders This technique was originally taken from microbes Bacteria and Archaea immune system They use this to protect themselves from invading parasites Viruses There are two main components to this system a DNA cutting protein called the CAS9 and RNA molecule known as the guide RNA Together they form a complex Gene editing can open a lot of opportunities in medical applications allows to cure genetic diseases Researchers in china used CRISPR to edit human embryo to correct the mutation in the haemoglobin genes Howard 2017 This can lead to possibility of curing Haemo globinopathies Replacing and editing of faulty genes With CRISPR cancer cell replications Removing DNA of integrated HIV virus from infected human cells On a bigger picture human immune system could be modified eliminating the chances of many diseases Ivacaftor 1st precision medicine for Cystic Fibrosis which is also used in the NHS 

This can be used by patients over the age of 2 with G551D G178R S549N S549R G551S G1244E S1251N S1255P or G139D mutations Ivacaftor helps opening the chloride channels allowing them to move in and out of the cells This helps to keep the balance of salt and water in the lungs It is a very expensive drug due to its availability and complex process of making There are few checks before the patient is prescribed these drugs Blood test to check the liver Check with the doctor if taking any other medications on the side as the medicine may not work or have an alternate effect Side effects include Developing of cataracts Headaches Sore throat Nasal or sinus congestion Diarrhoea Nausea and vomiting Dizziness Study 35 people with CF mutation of G551S G970R S1251N G551D and S549R who were 6 years old and over took KALYDECO or placebo sugar pill every 12 hours with fat containing food Each person had their 8 week treatment Overall the study suggested that whoever took KALYDECO had improvement in their lung function through out the time period Whereas people with placebo treatment did not show much improvement People with G970R mutation did not show any improvement at all therefore suggests that KALYDECO is not for those mutations 2nd precision medicine for Cystic Fibrosis patients aged 6 and over who have two copies of F508del mutation in their CCFTR It is a combination of Ivacaftor and Lumacaftor Lumacaftor helps get more protein to the surface of the cells in the body whereas Ivacaftor helps the CFTR protein work more effectively According to the Cystic Fibrosis Trust though the use of Orkambi in the UK has been licensed the National Institute for Health and Care Excellence NICE has rejected the drug use in the NHS Therefore is only prescribed to people on compassionate grounds It is important that only the prescribed patients with this mutation f508del take these if not complication might arise in the alteration of DNA Just like any other medicine this too has its side effects Some include Nausea vomiting Loss of appetite Pain and discomfort in abdominal area Yellowing of skin Confusion Shortness of breath

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