List of top Medical Genetics Questions

Preimplantation genetic diagnosis and its types.
Explain about RNA therapeutics and its applications with examples.
Explain haemopoietic stem cell transplantation.
Write 4 absolute indications amongst rare inherited disorders.
What is drug repurposing and its advantages? Explain with four examples.
Explain National Policy for Rare Disease (NPR of India.
Discuss associated challenges in implementation of the policy.
Discuss large scale genomic sequencing projects for rare diseases.
Explain various function prediction algorithms.
Discuss in-utero enzyme replacement therapy and gene therapy - Enlist success and challenges for each.
CAR-T cell therapy and its indication. Explain with examples.
Liquid biopsy, its principle and its application.
Explain the process of next-generation sequencing and various analytic strategies for the detection of genomic rearrangements.
The mode of inheritance of familial adenomatous polyposis is
Haemophilia is a genetic disorder of coagulation seen only in males. It is transmitted as
Consider the following diseases:
1. Huntington's disease
2. Cystic fibrosis
3. Sickle Cell anaemia
4. Haemophilia A
Which of the following disorders are transmitted as autosomal recessive genetic disorders?
A 30 year old male complains of infertility. He appears tall and has gynaecomastia. Genitalia appear normal except for bilateral small testes. His chromosomal pattern is likely to be