Families of children with rare genetic disorders often face not just medical challenges, but social isolation. This clinic reflection explores how fear of stigma, marriage prospects, and caregiving burden can silently fracture joint families leaving young parents to carry the weight alone. Read More

July 11, 2025

4 Comments

Hope After The Report

A reflection by a DM Medical Genetics trainee on shifting from risk-based counseling to compassion, hope, and inclusion in prenatal diagnosis. Read More

Patient Voices

clinical case, genetic counselling

July 9, 2025

0 Comment

qPCR For Deletion Analysis: A Practical Guide

Learn how to use SYBR Green qPCR to detect heterozygous gene deletions. Step-by-step guide with data analysis, interpretation, and troubleshooting tips for polymorphic dropout. Read More

Uncategorized

molecular lab, PCR

July 9, 2025

1 Comment

SYBR Green-Based qPCR Protocol with Detailed Explanation of Melt Curve and Data Analysis

Learn how to validate heterozygous gene deletions using SYBR Green-based qPCR. Step-by-step guide with melt curve analysis, and ΔCt/ΔΔCt interpretation. Read More

Understanding FATHMM: A Beginner’s Guide to This In Silico Prediction Tool

A beginner-friendly guide to FATHMM, an in silico tool that uses Hidden Markov Models to predict the pathogenicity of missense variants. Learn how it works, how it's different from deep learning tools, and its clinical applications. Read More

PrimateAI Made Simple: Understanding Mutation Impact with Evolution and AI

PrimateAI is an AI tool developed by Illumina in 2018 to predict the pathogenicity of missense mutations using primate genetics and deep learning. This beginner-friendly guide explains how it works and why it matters. Read More

Understanding Spectrophotometry Using NanoDrop 2000: Measuring DNA Concentration and Purity

Learn how to use the NanoDrop 2000 spectrophotometer to accurately measure DNA concentration and assess sample purity. Understand the principles of absorbance photometry, key wavelength choices (260, 280, 230 nm), and how to interpret 260/280 and 260/230 ratios. Read More

Urine Reducing Substances: A Quick Bedside Clue Using Benedict’s Test

Learn how the Benedict’s test helps detect reducing substances in urine, including glucose, galactose, and fructose. Understand its chemical basis, clinical uses in metabolic disorders, and how to interpret results effectively. Read More

Designing Primers for PCR/Sanger Sequencing Using Ensembl and NCBI Primer-BLAST: Step-by-Step Guide

Learn how to design PCR/Sanger sequencing primers using Ensembl and NCBI Primer-BLAST with a real-life example. A complete step-by-step guide for genetics labs and clinicians. Read More

Prenatal USG in Lethal Skeletal Dysplasias: A Clinical Geneticist’s Toolkit

Learn how clinical geneticists can interpret key ultrasound markers to identify lethal skeletal dysplasias early and accurately in pregnancy. Read More

Fetal Medicine

USG

Gene Commons

Gene Commons

When a Diagnosis Is Not the Only Burden

Hope After The Report

qPCR For Deletion Analysis: A Practical Guide

SYBR Green-Based qPCR Protocol with Detailed Explanation of Melt Curve and Data Analysis

Understanding FATHMM: A Beginner’s Guide to This In Silico Prediction Tool

PrimateAI Made Simple: Understanding Mutation Impact with Evolution and AI

Understanding Spectrophotometry Using NanoDrop 2000: Measuring DNA Concentration and Purity

Urine Reducing Substances: A Quick Bedside Clue Using Benedict’s Test

Designing Primers for PCR/Sanger Sequencing Using Ensembl and NCBI Primer-BLAST: Step-by-Step Guide

Prenatal USG in Lethal Skeletal Dysplasias: A Clinical Geneticist’s Toolkit