Biotechnology Assignment: Hemophilia Treatment and Research

This assignment delves into the application of biotechnology in treating hemophilia, specifically focusing on recombinant factor IX (rFIX) and gene therapy. It addresses the mechanisms of action, including the replacement of defective genes and the use of modified rFIX molecules to enhance clotting factor activity. The assignment outlines the process of developing rFIX, from cloning the FIX gene to the production of rFIX concentrates and the various brand names available. Furthermore, it discusses the preclinical and clinical stages involved in evaluating the safety and efficacy of treatments, from identifying biologically active doses to testing on animal and human subjects. The assignment also mentions the aim to achieve specific FIX levels to manage bleeding in hemophilia patients. The assignment also includes references from various sources.

Running head: BIOTECHNOLOGY
QUESTION AND ANSWERS
Name of the Student
Name of the University
Author Note

1Running head: BIOTECHNOLOGY
Answer 1
 Completely inhibit gene expression
 High specificity and low on target side effects
Answer 2
Haemophilia B has been stated as a recessive X-linked disorder, which is
characterized by the deficiency of coagulation factor IX (FIX). This treatment strategy will
consist of recombinant factor IX that will be efficient in clotting blood. This therapy is
termed as recombinant replacement therapy. The cloning of the FIX gene was a result of
genetically engineered Chinese hamster ovary cells known as rFIX concentrate (Pouplard et
al., 2018). This compound has an approximated molecular weight of 55,000 Da and a 415
amino acid sequence, which has various polymeric forms. The recombinant FIX protein is
similar to the endogenous FIX, which proves the fact that it can be replaced for them. Thus
restricting out the gene responsible for the synthesis of the defective gene (FIX) in
hemophilia B patients and reinserting the recombinant gene helps in the regeneration of
proper clotting factors of blood. Other modifications can also be made in the treatment
strategy, which involves the fusion of the Fc region of IgG with an rFIX molecule to
accelerate the circulation time. These procedures are helpful in increasing the synthesis and
action of clotting factors responsible for blood clotting in hemophilic patients. There are
various brand names of rFIX named Aimafix, Berinin, Betafact, and AlphaNine which are the
most significant treatment products for hemophilia. Thus, it can be stated that the aim of this
strategy is to achieve a FIX level of 60% to 80% for the majority of the bleeds. This rate was
aimed at 20% to 40% for minor bleeds (Santagostino et al., 2019). Thus, it can be stated that
this strategy will cure hemophilia at its genetic and molecular levels preventing the chances
of reprisal.

2Running head: BIOTECHNOLOGY
Answer 3
1st. Preclinical identification of a biologically active dose range.
2nd. Evaluation of safety in sick animal subjects.
3rd. Evaluation of efficacy in sick animal subjects.
4th. Evaluation of safety in sick human subjects.

3Running head: BIOTECHNOLOGY
References:
Pouplard, C., Jeanpierre, E., Lasne, D., Duchez, V. L. C., Eschwege, V., Flaujac, C., ... &
Sobas, F. (2018, January). Factor IX assays in treated hemophilia B patients.
In Annales de biologie clinique (Vol. 77, No. 1, pp. 41-52).
Santagostino, E., Yan, S., Matsushita, T., Alberio, L., & Davis, J. (2019). Systematic Review
of Efficacy of Recombinant Factor IX Products for Prophylactic Treatment of
Hemophilia B. Hämostaseologie, 39(S 01), P08-2.