Available courses
There are about 7000 known rare diseases, affecting around 8% of the world’s population. 75% of rare disease patients happen to be children.
The last two decades have seen emergence of new therapies for a few rare disorders which previously had no hope of survival. By using innovative techniques and advanced scientific technology, researchers have developed novel drugs which are showing miraculous results.
However, even though some of these new therapies are highly promising, they are prohibitively expensive and lifelong in many situations, placing immense strain on the resources of the affected families. What an agony for the parents to see their affected child suffering or dying for lack of access to the treatment, due to the cost! The situation is equally distressing to physicians who are involved in the care of patients with these rare disorders.
AIIMS Jodhpur is Center of Excellence for rare Diseases since October 2022.
The overall objective of the course will be to prepare students with the
appropriate knowledge and experiences to function as genetic counsellors in a
wide range of settings and roles. With unprecedented advances in our
understanding of the genetic and molecular control of gene expression and
development, and in our ability to apply this knowledge clinically, the Program
strives to train students who can interface between patients, clinicians and
molecular and human geneticists. Students gain insightful and multifaceted
skills that will enable them to be effective genetic counsellors, aware of the
many new technical advances and often-difficult ethical, legal and social
issues that have surfaced in the light of the Human Genome Project.
The knowledge of genetics when applied for diagnosis and care of patients with multiple diseases is the arena of "Clinical Geneticist". The professional has, beside the knowledge of basic science is also skilled in managing diseases and is able to differentiate the conditions originating from other etiologies to that from genetics.
A change in single nucleotide may results in clinical manifestation as subtle as normal part of life to severe disease affecting multiple systems in our body. Technological advances in diagnostics have increased magnification that a single nucleotide change can be detetected.
Glossary is a list of unusual words or items. The understanding enhances our learning and retaining the subject.
We often come across patients with dysmorphism, intellectual problem, defects or multiple malformation on one hand to abnormalities in reproduction, growth abnormalities and anomalies on the other.
Common known abnormalities are:
1. Numerical like Down syndrome and other trisomies
2. Turner Syndrome
3. Structural abnormalities in chromosomes