Update README.md

README.md

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 # ibrahim-olajide.github.io
-Variation in Genes caused by Mutation and Alternative Splicing
+Variation in Genes caused by Mutation and Alternative Splicing :
 Albinism is a group of genetic conditions in which a person has no or very little melanin pigment in their skin, hair and eyes. Albinism occurs in all racial and ethnic groups throughout the world. In Australia, about 1 in 17,000 people have some type of albinism.
 
-It is important for people with albinism to protect their skin and eyes from the sun, and have their eyes checked regularly.
-
 The genes for albinism are passed down from both parents, who may not be directly affected by it themselves. However, there is no simple test to determine whether a person carries a gene for albinism.
-What are the types of albinism?
 There are 2 main types of albinism:
 
 oculocutaneous albinism, in which the hair, skin and eyes are all affected
 ocular albinism, which is much less common, and involves only the eyes. The skin and hair colour appears similar to that of family members
 There are also some extremely rare conditions where people have albinism and other health problems. Examples are Hermansky Pudlak syndrome, Chediak Higashi syndrome and Griscelli syndrome.
 
-What are the signs and symptoms of albinism?
+Signs and Symptoms of Albinism:
 Some children with albinism are born with pinkish-white skin and white hair. Their eyes are usually light grey, blue or hazel, although they can look pink in the light.
-OCULAR ALBINISM TYPE1
+
+OCULAR ALBINISM TYPE1:
 Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. We isolated a novel transcript from the OA1 critical region in Xp22.3-22.2 which is expressed at high levels in RNA samples from retina, including the retinal pigment epithelium, and from melanoma. This gene encodes a protein of 424 amino acids displaying several putative transmembrane domains and sharing no similarities with previously identified molecules. Five intragenic deletions and a 2 bp insertion resulting in a premature stop codon were identified from DNA analysis of patients with OA1, indicating that we have identified the OA1 gene.
 
-OCULOCULAR ALBINISM
+OCULOCULAR ALBINISM:
 Oculocutaneous albinism (OCA) is associated with a wide range of clinical presentations and has been categorized with syndromic and non-syndromic features. The most common causative genes in non-syndromic OCA are TYR and OCA2 and HSP1 is in the syndromic albinism.
 People with albinism usually have poor vision. Glasses can help, but some have poor vision even with glasses. Several eye conditions can affect people with albinism including nystagmus, which is horizontal back and forth movement of the eyes, and photophobia, which is sensitivity to bright light and glare.
 
@@ -29,3 +27,9 @@ BLAST, ORF-Finder
 BioEdit, Clustal Omega, ClustalW, MEGGA,MAFFT
 GALAXY
 Mitoswebser
+
+CONCLUSIONS 
+To treat OCA, gene therapy has shown important improvements in animal models. This technique can increase melanin production in the OCA. For this purpose, gene correction techniques are already available. These comprise techniques to edit erroneous segments in the genes such as TYR gene and LRMDA gene. This technique can include gene delivery vectors and gene editing tools. Gene delivery vectors may include such as retrovirus, adenovirus and AAV. Gene editing tools may comprise such as TALENs system and CRISPR/Cas9 system. For example, CRISPR/Cas9 system can correct albinism phenotype in rats. Either TALENs or CRISPR/Cas9 system in combination with iPSCs can be useful to fight albinism. It seems that gene therapy would be very beneficial for treating OCA disorder.
+REFERENCES
+Journal of Advances in Biology & Biotechnology, 16(3): 1-12, 2017. DOI:10.9734/JABB/2017/38504
+https://pubmed.ncbi.nlm.nih.gov/35328057/