Genetics of human telomere biology disorders

Learning Goal: I’m working on a genetics writing question and need an explanation and answer to help me learn.

the topic: Genetics of human telomere biology disorders

Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that prevent the activation of DNA damage response and repair pathways. Numerous factors localize at telomeres to regulate their length, structure and function, to avert replicative senescence or genome instability and cell death. In humans, Mendelian defects in several of these factors can result in abnormally short or dysfunctional telomeres, causing a group of rare heterogeneous premature- ageing diseases, termed telomeropathies, short- telomere syndromes or telomere biology disorders (TBDs).

Instructions and Rubric:

Read the attached article forming working groups of around 4 persons; workin in groups is highly appreciated but SUBMISSIONS ARE INDIVIDUAL AND PLAGIARIMS WILL BE DETECTED.

  • Format: (2 pages, including Figures and references)
  • Background: Describe telomeres biology (1 point)
  • Discussion: Elaborate on technologies able to detect and characterize telomeres lenght and the possibel applications (1.5 points)
  • Conclusion: Debate the clinical value of telomere biology and Create hypothesis aon the use of telomere biology in the follow-up of different diseases ( 2 points
  • References (0.5 points):
  • Include at least THREE PEER-REVIEWED REFERENCES (the source of the information you used to write your report) in the following Format:

Stanchev S, Stamenov N, Kirkov V, Dzhambazova E, Nikolov D, Paloff A. 2020.

Differential collagen expression in kidney and heart during hypertension. Nature

121(1):73-78.

  • Additional instructions:
  • You should write your name, student ID number and THE SECTION you belong to at the top of your report.
  • You need to include the subtitles above (Background, Discussion and Conclusion).
  • Your report (2 pages) should be written using Arial Font (size: 11) with single space.
  • References should be introduced in the text as numbers and listed in full on a third page along with the figure as indicated above.
  • Please make every effort to make the report your own. Any reports found to have more than 20% matching score will receive points deductions as described below.

  • Matching score between 20% to 30%: 1 pts deduction
  • Matching score between 30% to 40%: 1.5 pts deduction
  • Matching score between 40% to 50%: 2 pts deduction
  • Matching score more than 50%: 4 pts deduction

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