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Analysis Of Alzheimer’s Disease GSE174367

The analysis involved using a multi-omic single nucleus study of 191,890 nuclei in late-stage Alzheimer’s Disease (AD). This is just a brief explanation of the finding based on the dataset. The RNA data was analyzed using Principal component analysis (PCA)…. Continue Reading →

Coffee & Blood Pressure

GWAS study in 2012 reported that senile a variant associated with blood pressure and coffee intake daily. So, the senile was located at a gene called CYP1A2. Here is my simple diagram. Below diagram shows, caffeine metabolism with genes in… Continue Reading →

Glossary Of Genomic & Precision Medicine

Autosomal Dominant: A child or a person can inherited when one parent has a mutation in one gene. 50% Risk of passing to next generation. It is not related to sex. Autosomal Recessive: A child or a person can inherited… Continue Reading →

Perrault Syndrome

Perrault syndrome is the loss of hearing in both males and females. The disease is classified as sensorineural deafness. It is a rare disease and an autosomal recessive genetic disease. There are few variations of Perrault syndrome: Perrault syndrome-1 (PRLTS1):… Continue Reading →

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

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

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 →

Prader-Willi Syndrome

Prader-Will Syndrome is caused by genetic variation. A rare genetic condition, due to deletion of chromosome 15, is located at chr15q11.2. Imprinted genes of NPAP1/C15orf2. NAPAP1 stands for Nuclear Pore Associated Protein 1. Due to a heterozygous deletion of chromosome… Continue Reading →

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