#rare-disease

Stopping Hutchinson-Gilford Progeria Syndrome One Base Pair at a Time

How adenine base editing offers a way to repair the mutation that drives rapid aging in children

When AI and RWE Converge: Accelerating Evidence for Rare Disease and Innovative Therapies

Why Evidence for Rare Disease Matters

What My Body Doesn’t Show You

Invisibility is like a second skin to you.

I’m Aware That I’m Rare: Even Holm, LMSW, SWCM (580)

the phaware® interview

The best nystagmus drugs might already be on the shelf

I turned my fund’s data tooling on my own nystagmus: 3,200 papers, 669 findings, off-patent drugs nobody has trialed.

The Deadly Protein That Breaks The Brain

You may remember learning about the wonders of protein synthesis during high school.If you dig deep into your memories, perhaps you may…

Can Massage Therapy Help Relieve Primary Lymphoedema and Lipoedema?

Lymphoedema and lipoedema, or the buildup of fluid and unnecessary fat, are disfiguring health conditions that cause more than just…

The Man on the Path

A woman walking next to us pointed to the man just ahead and said, “That’s my brother.”

"It's Called FPIES."

And chances are, this is the first time you've heard of it.

From Casgevy to Base Editing: Rare Disease Therapy Enters the Programmable Medicine Era

Over the past decade, genome editing has evolved from a research technology into a clinically validated therapeutic platform, with the…

Football and ALS: What We Know

New research ties pro football to a rare, fatal disease, and it raises real questions for parents of young athletes.

A jornada invisível dos pacientes com doença rara

Desafio

When “Staying Positive” Silences Special Needs Parents

Acknowledging a medical reality isnt giving up hope. It’s the first step to becoming the parent your child actually needs.

Can Genetic Testing Help Prevent Parkinson’s Disease?

Abstract

Interviewing 100 Rare Disease Patients — Story #4

My Heart Was Failing Quietly for Years — Until Doctors Implanted a Device That Could Shock It Back to Life

I’m Aware That I’m Rare: Karen Sawyer (576)

the phaware® interview

Welcome to Translated by Babra

Hello and Welcome!

Most Expensive Drugs in the World 2026: Top 10 High-Cost Treatments

Explore the Most Expensive Drugs in the World 2026 and discover the top 10 high-cost treatments revolutionizing healthcare. From…

A silent conflict in the womb : Hemolytic Disease of the Newborn

While studying immunology, I was surprised to learn that a mother’s immune system can sometimes attack her baby’s red blood cells. This…

Co-morbid Cluster Headache and Vasospastic Angina (VSA)

Interviewing 100 Rare Disease Patients — Story #3

The Day a Machine Had to Breathe for Them

I’m Aware That I’m Rare: Carol Stokely (575)

the phaware® interview

The Second Job Nobody Hired You For

There’s a particular weariness that sets in when seeking care stops feeling like a partnership and starts feeling like a battle you’re…

Interviewing 100 Rare Disease Patients — Story #1

The Heart That Stopped, Then Spent 10 Years Trying to Keep Going

17-Hydroxylase deficiency is mistaken for essential hypertension, primary amenorrhea of unknown…

A 17-year-old girl is referred for primary amenorrhea. Her blood pressure is 168/104. Her serum potassium is 2.9 mmol/L. The general…

I’m Aware That I’m Rare: Jenny Yang, MD (574)

the phaware® interview

Harlequin Ichthyosis: A House Officer's Experience with a Rare Newborn Case.

Why rare disease apps fail their patients-A UX designer’s perspective

We design for the average user. But for people with rare diseases, there is no average.

The Story of Mariam and CVS

It slowly began to feel normal for Mariam to get hospitalized 4 times in a month. But it is shocking for anyone when they come to know that…

A disease that takes years to diagnose. I tried to fix that with machine learning.

Wilson Disease is a condition most people have never heard of. But those who have, know that it is one of the most misdiagnosed conditions…

I’m Aware That I’m Rare: Eric Borstein (573)

the phaware® interview

Call for Delegate

Attend the CME/CPD accredited 16th World Gastroenterology, IBD, Hepatology Conference & Exhibition from December 10–11, 2026 | Kuala…

Digital Patient Companions for Undiagnosed Conditions

For many people living with a rare or undiagnosed condition, the hardest part isn’t just the symptoms.

Guarding The Mind

(Illness, depression, and the edge of survival)

Understanding MOGAD Starts Here: Rare Disease Awareness for Patients and Families

Myelin Oligodendrocyte Glycoprotein Antibody Disease (MOGAD) is a rare, neurological autoimmune disease that affects the central nervous…

I’m Aware That I’m Rare: Nicole Dempsey (572)

the phaware® interview

Whole Exome Sequencing Market: Transforming Precision Medicine and Genetic Research

The global Whole Exome Sequencing (WES) market is experiencing remarkable growth as healthcare systems, research institutions, and…

Listening to the Transcriptome: Finding Answers Beyond DNA

It often begins the same way. A patient presents with a condition that does not quite fit known categories. DNA sequencing is performed…

My Aortic Journey: The Dark Recovery Room, and What Came After

This is Part 3 of a three-part series about my journey with thoracic aortic disease. Part 1 | Part 2. In Part 2, my aorta dissected while I…

My Aortic Journey: Fifteen Years of Watching, One Tuesday Morning

This is Part 2 of a three-part series about my journey with thoracic aortic disease. If you haven’t read Part 1, you can find it here. In…

My Aortic Journey: Diagnosis, IV Poles, and the Night We Almost Lost Everything

This is Part 1 of a three-part series about my journey with thoracic aortic disease — from diagnosis in graduate school through three heart…

I’m Aware That I’m Rare: Florin Dumitrescu (571)

the phaware® interview

When Your Diagnosis Isn’t the Whole Story

Living with a rare disease is already hard.

Why the Duchenne Muscular Dystrophy Market Could Reach $4.1 Billion by 2036

Some medical conditions impact not just individuals but also families‚ research priorities and the health system․ DMD is an example of such…

I’m Aware That I’m Rare: Terrie Keplinger (570)

the phaware® interview

I’m Aware That I’m Rare: Rey Adam Rodriguez (569)

the phaware® interview

You Don’t See the Bleeding: What Life With Hemophilia Really Looks Like

Most people have heard the word “hemophilia.” Few understand what it actually means.

I’m Aware That I’m Rare: Sherry Rouse (568)

the phaware® interview

I’m Aware That I’m Rare: Nicholas Kolaitis, MD (567)

the phaware® interview

Health Data as a Public Utility

We generate health data constantly. Every time you visit a doctor, fill a prescription, use a fitness tracker, or submit to a genomic…