Month: February 2021

February 26, 2021February 27, 2021

What ‘Rare’ Means to Me This Rare Disease Day

Epidermolysis Bullosa News Columns

A few days ago, a friend working in healthcare communications asked: “What does rare mean for you?” It got me thinking. I answered: “Rare is something special, something unique. Something ... Read more

February 26, 2021February 26, 2021

After a Full Dose of Steroids, I’m Still a Little Old Man at 63

COVID-19 Columns, Multiple Sclerosis News Today Columns

“Let’s go for a walk,” my wife, Jane, chirpily suggested. This was a bit of a nightmare. I had to put on trousers. I perhaps cheekily get away with only ... Read more

February 26, 2021February 26, 2021

You Can Ask Me About My Disability Any Day

SMA News Today Columns

As Rare Disease Day approaches on Feb. 28, many in the disability community are seizing the opportunity to share about their diseases and the many aspects of being rare. Having ... Read more

February 26, 2021February 26, 2021

UK Charity Sibs Offers Resources for Siblings of Fragile X Children

Fragile X News Today

Sibs, a U.K. charity that supports siblings of all ages who have a brother or sister with disability, has presented several resources for siblings of children with fragile X syndrome. Last ... Read more

February 26, 2021February 27, 2021

#ACTRIMS2021 – Young Brain Fluid (CSF) Rejuvenates Memory in Mice

Multiple Sclerosis News Today

Editor’s note: The Multiple Sclerosis News Today news team is providing in-depth and unparalleled coverage of the virtual ACTRIMS Forum 2021, Feb. 25-27. Go here to see all the latest stories from the ... Read more

February 26, 2021February 26, 2021

3D Imaging System May Have Applications in ALS Research

ALS News Today

A novel system for three-dimensional (3D) imaging of zebrafish may be useful for studying the motor and neuronal deficits linked with amyotrophic lateral sclerosis (ALS), a study suggests. The system ... Read more

February 26, 2021February 26, 2021

Funding Supports Pharnext’s Phase 3 Trial of PXT3003

Charcot-Marie-Tooth News

Pharnext has received €11 million ($13.3 million) in funding to support a Phase 3 trial investigating its investigational therapy PXT3003 for the treatment of Charcot-Marie-Tooth disease type 1A (CMT1A). The ... Read more

February 26, 2021February 26, 2021

Corneal Neurotization Surgery Doesn’t Guarantee Full Vision

Neurotrophic Keratitis News

Despite being successful, corneal neurotization — a surgical procedure that seeks to restore nerve function in the cornea — does not guarantee neurotrophic keratitis (NK) patients will fully regain their ... Read more

February 26, 2021February 26, 2021

Teeth Grinding Is Most Common Dental Problem

Rett Syndrome News

Bruxism, also known as teeth grinding and jaw clenching, is the most common oral manifestation in patients with Rett syndrome, according to a small review of literature. The study, “Oral ... Read more

February 26, 2021February 26, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

Cushing's Disease News

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned ... Read more

February 26, 2021February 26, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

COVID-19 News, Fabry Disease News

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned ... Read more

February 26, 2021February 26, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

Batten Disease News, COVID-19 News

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned ... Read more

February 26, 2021February 26, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

COVID-19 News, Sanfilippo News

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned ... Read more

February 26, 2021March 11, 2021

FIB-5 Liver Fibrosis Index Shown to Predict Kidney Failure in MPA, GPA

ANCA Vasculitis News

Measuring liver scarring at diagnosis, using the FIB-5 liver fibrosis index, can help predict kidney failure in people with the two most common subtypes of ANCA-associated vasculitis (AAV), a study reports. ... Read more

February 26, 2021February 26, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

COVID-19 News, Hypoparathyroidism News

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned ... Read more