BY: Rajavarman Kittu Clinical Bioinformatician Premas Life Sciences Pvt Ltd - 01 Mar-2023

Rare Disease are less spoken even in the medical world. The ratio to define rare condition varies across the globe. In fact, the awareness about the rare genetic disorders needs some serious attention at a global level. Here we attempt provide a keynote for rare disease.   


The uniqueness is all around with 1%, as we all same 99% of same genetic material [DNA]. The DNA being Dogma, the modification in it both high level and lower level affects the end products. The Genetic alterations in DNA leads to changes of biochemical properties, functional effects and much more to count on. The population database like Genome wide association studies has information about the SNPs/Indels with allele level clarity to give idea on what frequency the mutations/variants occur. The rarest mutant/variants generally reported with very few less frequency.  

Rare and Care.

Traditional Diagnostics:

The traditional diagnostics methods, screening single gene for single gene based rare disease. Multigene/targeted screening where set of genes which are responsible for the rare clinical conditions, clinical exome for looking for alternation in established clinically important/actionable candidate genes, whole exome or whole Genome panels diagnostics for finding out all possible alteration, secondary level variants, linkage correlations, and narrow down the possible novel variants and its correlations.      

The germline/Hereditary conditions: Rare disorders/clinical conditions are checked in Trio senerio [proband & parents]in order to know the root cause. Trio screening allows us to understand the penetrance level, hereditary pattern [like autosomal dominant or recessive]. The germline screening provides the idea of variants which are linked with disease, based on the finding the disease management and genetic counseling to the parents given in order to take clear and safety decisions.

Undiagnosed clinical condition:

There are set of neurology conditions, which are not explored much and also very complicated to interpret the clinical conditions categorized as Undiagnosed diseases. 

Impact on studying Undiagnosed Diseases:

•    Investigating the mechanisms underlying rare and undiagnosed diseases can lead to the most interesting scientific discoveries
•     Rare diseases are often caused by genetic mutations, making it much easier to prove that they are the cause of the disease.
•     Studying the role of genes in rare or undiagnosed diseases may contribute to our understanding of related common diseases.[1]

The National Institutes of Health Genetic and Rare Diseases (GARD) Information Center provides a list of tips that provide helpful information for undiagnosed patients to reach a diagnosis. Additionally, list of resources for information on genetic testing may be helpful to those seeking a genetic test diagnosis.[2]

RareConnect is a platform for connecting individuals and families around the world. Online communities enable people to connect and share the struggles and triumphs of experiencing rare diseases. We have an undiagnosed disease community to share stories and participate in discussions. The Rare & Undiagnosed Network (RUN) advocates for the integration of genomic medicine into clinical practice and maintains a blog for undiagnosed individuals and families.[3]

1) https://irp.nih.gov/blog/post/2015/06/top-5-reasons-to-study-rare-and-undiagnosed-diseases 
2) https://rarediseases.info.nih.gov/ 
3) https://www.rareconnect.org/en 

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