References must be using Lab Medicine (www.labmedicine.com,https://academic.oup.com/labmed ) format Should be less than 30% of similarities I.Background/overview/bullet points of the gene/gene products/disease II.Pathophysiology III.Diagnosis IV.Etiology (Genetics/Molecular bases) V.Management and treatments VI.Other Definition and the terminology A guide in intensive-writing I.Overview/Background a. Gene or chromosomal involvement b. Gene profile: i. Gene name ii. Protein name iii. Chromosomal location iv. Mutation types (del, ins, dup, trans, snp, etc) v. Incidence rate, population or age prevalence etc. II.Pathophysiology a. The branch of science concerned with the functioning of organisms is physiology b. The physiology of abnormal or diseased organisms or their parts; the functional changes associated with a disease or syndrome. III.Diagnosis a. The act or process of identifying or determining the nature and cause of a disease or injury through evaluation of patient history, examination, and review of laboratory data. b. The opinion derived from such an evaluation. c. Classic diagnostics: enzyme assay, EIA, Histology assay, microscopic, d. Molecular assays: PCR, array, Sequencing, Blotting etc IV.Etiology a. The branch of medicine that deals with the causes or origins of disease. b. Etiology is the study of causation, or origination. “giving a reason for. c. Describe clearly the structural or number abnormality of chromosome, the base/sequence number d. Example: a three base-pair deletion in exon 10 of the CFTR gene results in the omission of phenylalanine at position 508 in the 1480 amino acid chain., Example 2: sickle cell anemia HbS/HbSS, a single nucleotide change from A to T in the globin gene B gene in chromosomal 11 etc.) V.Management and prognosis a. Treatment: drug, surgery, genetic consoling, follow-up etc. b. A prediction of the course or outcome of a disease or disorderb. The chances of recovery from a disease IV. Etiology a. The branch of medicine that deals with the causes or origins of disease. 4 b. Etiology is the study of causation, or origination. “giving a reason for. c. Describe clearly the structural or number abnormality of chromosome, the base/sequence number d. Example: a three base-pair deletion in exon 10 of the CFTR gene results in the omission of phenylalanine at position 508 in the 1480 amino acid chain., Example 2: sickle cell anemia HbS/HbSS, a single nucleotide change from A to T in the globin gene B gene in chromosomal 11 etc.
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