Need help? We are here

Determine the typical pattern

Medical Genetics assignment -3000words Intoduction At the time of presentation the patient (chrisF) was a 2 month old Caucasian female noted to have respiratory distress with production of sputum as well as loose and sometimes greasy stools. The paediatric consultant suspected cystic fibrosis , despite there being no previous family history . As a Genetic analyst write a report on chtisF detailing the following . 1- draw a pedigree to determine to determine the typical pattern of inheritance of cystic fibrosis using appropriate symbols and annotations with a brief explanation of family history for the pedigree drawn. You should include 4 generations of family. 2-Describe in detail the typical epidemiology and phenotype of cystic fibrosis and progression of disease in patients. 3- Describe in details the underpinnings Genetics of cystic fibrosis and molecular/ genetic tests that can be performed to confirm diagnosis . Include the details of the genes involved,the typical mutations observed and molecular pathways affected that can lead the symptoms described above. 4- Describe current therapeutic strategies for cystic fibrosis through the course of the condition clearly indicating how the knowledge of the mutations carried may influence the therapy chosen include in your account novel molecular strategies currently delivered and exploited

Share This Post

Email
WhatsApp
Facebook
Twitter
LinkedIn
Pinterest
Reddit

Order a Similar Paper and get 15% Discount on your First Order

Related Questions

Scholar conversations are designed to be virtual discussions within groups. For this discussion students should start by watching this interview

Scholar conversations are designed to be virtual discussions within groups. For this discussion, students should start by watching this interview with Dr. Sara Maxwell, professor at UWB.Also, read this paper written by Dr. Maxwell. There will be a brief 5-question concept quiz about the reading directly after this discussion.https://youtu.be/bqyTaPofSpkDiscussion GuidelinesYou