Introduction In every clinic, behind every genetic report, there is a family seeking answers — and often, hope. Genetic counseling is not just about explaining test results or inheritance patterns; it’s about guiding families through some of the most emotionally charged moments of their lives. In a country as vast and diverse as India, where cultural traditions, consanguinity, and population density intersect, the need for structured, empathetic, and accurate genetic counseli

If you're like myself, the disease 'Usher Syndrome' was fairly foreign until stumbling across the Every Second Counts campaign advertisement on Hulu starring American author and disability advocate Rebecca Alexander, along with Michael Mullarkey, who was recently diagnosed at the age of 1. The phrase “How would you live your life differently if you knew it was only a matter of time before you went completely deaf and blind?” in particular, is what started the creation of this

Did you know cystic fibrosis was first discovered in the pancreas?     In 1938 Dr. Dorothy Anderson, an American pathologist coined the term “cystic fibrosis of the pancreas” based on autopsies of children dying of malnutrition, due to failure of the pancreas. The children in those days did not survive long enough to develop lung disease. What is Cystic Fibrosis (CF)? Cystic fibrosis is a genetic disorder caused by mutation in the gene that codes for the cystic fibrosis trans

By Nikki Elmi Macrodystrophia Lipomatosa (MDL) is a rare congenital overgrowth disorder characterized by an excessive and disproportionate growth of one or more digits (fingers or toes), and sometimes an entire limb. The overgrowth involves not just adipose (fat) tissue but also other mesenchymal components; bone, nerves, connective tissue, possibly muscles and periosteum. Typically present from birth or early childhood, the disorder often becomes more prominent as the child

The 2012 Nobel Prize in Medicine was awarded to Dr. John B. Gurdon and Dr. Shinya Yamanaka for discovering transcription factors that can turn adult cells back into embryonic cells. (1) During the 1990s and 2000s there was a great deal of controversy over the fact that human embryos were required for stem cell research. Scientists were using (destroying) surplus embryos created by in vitro fertilization (IVF). (2, 3) Many found this unacceptable. Dr. Shinya Yamanaka told The

Whenever we hear the word genetic , the first thing that comes to mind is that the whole family would be affected or that it would definitely be passed down. This can create confusion or mayhem. But in reality, this is not true in most cases. The terms mutation  and genetic variant  are often used interchangeably. In this article, we mostly use variant , while some of the visuals may refer to mutation , they mean the same thing in this context. What Are Genetic Variants? Gene

Image by Freepik What is infertility? Infertility is defined as the inability to get pregnant after one year of trying. It is a complex...

Herpes virus (DNA virus) courtesy of Wikimedia Commons Viruses are non-living invaders who penetrate the body's defenses. Once in the...

Introduction Intergenerational trauma is defined by the American Psychological Association as “ the transmission of trauma or its legacy,...

What is cystic fibrosis? Cystic fibrosis (CF) is a genetic disease caused by mutations in the cystic fibrosis transmembrane conductance...

What is Pharmacogenomics? Pharmacogenomics explores how a person’s genetic makeup affects their body’s response to different medications....

When we think of insomnia, we often imagine sleepless nights due to stress, anxiety, or poor habits. But Fatal Familial Insomnia (FFI) is...

This is an easy-to-understand guide to biocomputing, its domains, applications, and current limitations. It includes all relevant data from credible sources. After reading this article, you can have an overview of what this innovative subject offers.

Introduction Mental health is shaped by a mix of our biology, life experiences, and environment. While trauma, stress, and relationships...

We’ve heard so much about DNA in sci-fi movies. Mutations in someone’s DNA can destroy the planet. Whoa, scary! But wait... if we all...

Imagine committing what you believe is the perfect crime. You've left no fingerprints, worn gloves, and avoided surveillance cameras. But...

Cancer and BRCA Basics Cancer is an ever-present enemy in modern life. It is estimated that in the United States alone, 2025 will see...

Sparking Awareness                On March 23 2025, the world’s largest direct to consumer (DTC) genetic testing company filed for...

Dyslexia is a form of neurodivergence that impacts hundreds of millions of people worldwide. Dyslexia can make reading, learning, and...

Humans are organized into organ systems, such as the nervous system, which includes the brain and spinal cord, and the circulatory...