When we think about developmental delays, we often picture children who simply need more time or support to reach certain milestones. But Angelman syndrome is something much more complex. It’s a rare genetic neurodevelopmental disorder that affects balance, movement, communication, and overall brain function. Despite its challenges, people with Angelman syndrome often have a uniquely warm, happy, and resilient presence, something many families talk about. Still, the condition

Introduction Many of us have occasionally felt very tired and achy, and perhaps thought that it could be due to iron deficiency. However, not many people would think that the symptoms they are experiencing could actually be caused by too much iron in their body. Over time, excess iron can build up in organs such as the liver, heart, and pancreas, which may lead to long-term complications, if left untreated. 1–3 What is hemochromatosis? Hemochromatosis is a condition in which

By Nikki Elmi By Nikki Elmi Ehlers-Danlos Syndrome (EDS) is a group of rare inherited connective tissue disorders that affect the body’s ability to produce or process collagen, an essential protein that provides strength and elasticity to skin, ligaments, blood vessels, and organs. First described by dermatologists Edvard Ehlers and Henri-Alexandre Danlos in the early 1900s, EDS has since been classified into 13 distinct subtypes based on genetic, biochemical, and clinical fe

Most people think of broken bones as temporary injuries, painful, but fixable. But imagine a condition where your body creates extra bones  on its own, turning soft tissue like muscles, tendons, and ligaments into solid bone. That’s the terrifying reality of Fibrodysplasia Ossificans Progressiva (FOP), a rare, inherited disorder that slowly traps people inside a “second skeleton.” It’s one of the rarest diseases known to science, affecting only about 1 in 2 million people wo

Introduction: A Microbial Defense Becomes Medicine CRISPR , short for clustered regularly interspaced short palindromic repeats , was first discovered in bacteria and archaea as a natural defense mechanism against viruses. These sequences store snippets of viral DNA, effectively creating a genetic memory that allows the organism to recognize and destroy invaders. Over decades, scientists have harnessed this system to develop powerful gene-editing tools , with applications now

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...