Month January 2021

Autism Spectrum Disorders

Autism is a condition where neurodevelopment is abnormal. This includes delay in speech and intellectual disability. Autism spectrum disorders are caused by heterozygous mutation in the TBR1 gene on chromosome 2q and along with other neighboring genes. Heterozygous means that… Continue Reading →


Spondylosis is a type of arthritis where it affects spines. Wear and tear of spines which include spine discs and joints deteriorate. Spondylosis could progress in a different part of the spine including (i) Middle of the spine (Thoracic), (ii)… Continue Reading →


Spondylitis refers to as long term inflammation of one or more vertebrate. Also referred to as Spondyloarthritis (SpA). Two main classifications of disease such as Traditional ApA Classification System and the Newer SpA Classification System. Six types of diseases under… Continue Reading →

Ewing Sarcoma

A genetic mutation/deletion causes Ewing Sarcoma, various tumours. EWSR1 gene is responsible for cellular processes such as gene expression, cell signaling, and RNA processing and transport. So, chromosome translocation in this gene and other gene transcription factors failed, this resulted… Continue Reading →

Multiple Carboxylase Deficiency Biotin Responsive

Multiple carboxylase deficiency (MCD) is a rare metabolic disorder and an autosomal recessive disorder of biotin metabolism. Biotin is also known as Vitamin H and it is one of the Vitamin B complexes. Vitamin B helps our body to convert… Continue Reading →

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