European Commission Grants Conditional Approval for Spinal Muscular Atrophy Treatment

Zolgensma, a gene therapy for spinal muscular atrophy (SMA), has recently been granted conditional approval by the European Commission (EC). This is extremely exciting news for those living with SMA…

Continue Reading European Commission Grants Conditional Approval for Spinal Muscular Atrophy Treatment
RNA Therapy Holds Promise for Treating SMA and Other Rare Diseases
source: pixabay.com

RNA Therapy Holds Promise for Treating SMA and Other Rare Diseases

by Jodee Redmond from In the Cloud Copy   Emma Larson’s parents were not particularly concerned when their daughter wasn’t standing or walking by her first birthday. They figured that plenty of children had not reached…

Continue Reading RNA Therapy Holds Promise for Treating SMA and Other Rare Diseases
Man Runs 400 Laps Around His Own House to Help Spinal Muscular Atrophy Patient
source: pixabay.com

Man Runs 400 Laps Around His Own House to Help Spinal Muscular Atrophy Patient

According to a story from The Charlotte Weekly, local resident Kevin Tobin recently ran 400 laps around his house---the equivalent of a marathon---to help raise money for Dan Donoher, a…

Continue Reading Man Runs 400 Laps Around His Own House to Help Spinal Muscular Atrophy Patient
Handling Rare Diseases and COVID-19: National Organization for Rare Disorders Reminds You to Stay Strong
source: pixabay.com

Handling Rare Diseases and COVID-19: National Organization for Rare Disorders Reminds You to Stay Strong

  If you're worried or anxious because of COVID-19, you're not alone. If wondering about the intersection of rare diseases and COVID-19 only increases that anxiety, well, we're with you…

Continue Reading Handling Rare Diseases and COVID-19: National Organization for Rare Disorders Reminds You to Stay Strong
“The Toddler that Doesn’t Toddle:” Raising a Child with Spinal Muscular Atrophy
source: pixabay.com

“The Toddler that Doesn’t Toddle:” Raising a Child with Spinal Muscular Atrophy

  As initially covered by MyLondon News, the family of a London boy with spinal muscular atrophy (SMA) is looking to advocate for others with this genetic disorder. Additionally, they…

Continue Reading “The Toddler that Doesn’t Toddle:” Raising a Child with Spinal Muscular Atrophy

This Journal Highlights Current Research on Neuromuscular Diseases (NMD)

In a Special Issue of the journal Disease Models and Mechanisms Highlights, James J. Dowling et al describes pediatric neuromuscular diseases as mostly genetic and affecting areas of the peripheral…

Continue Reading This Journal Highlights Current Research on Neuromuscular Diseases (NMD)
It Just Makes “Antisense:” Using Genetic Medicine to Treat Rare Diseases
source: pixabay.com

It Just Makes “Antisense:” Using Genetic Medicine to Treat Rare Diseases

  As previously published in Scientific American, slightly after her first birthday, Emma Larson lost the use of her legs and started experiencing difficulty crawling. She was diagnosed with spinal muscular…

Continue Reading It Just Makes “Antisense:” Using Genetic Medicine to Treat Rare Diseases
Long Term Data Looks Good for Spinal Muscular Atrophy Gene Therapy Zolgensma
source: pixabay.com

Long Term Data Looks Good for Spinal Muscular Atrophy Gene Therapy Zolgensma

According to a story from Benzinga, the Novartis Company AveXis recently announced the results of long term studies testing the impact of Zolgensma, a gene therapy treatment that was approved…

Continue Reading Long Term Data Looks Good for Spinal Muscular Atrophy Gene Therapy Zolgensma
Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases
source: pixabay.com

Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases

Patients with congenital diseases often experience a range of uncomfortable symptoms. On one side of the world, a family with erythromelalgia, a painful condition which can cause redness and swelling…

Continue Reading Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases

The European Parliament is Relaunching their Network for Rare Diseases

The European Parliament has announced that they will be relaunching their "Network of Parliamentary Advocates for Rare Diseases." Its aim is to create a new policy framework which can improve…

Continue Reading The European Parliament is Relaunching their Network for Rare Diseases
A College Student Started a Business to Inspire Others with Spinal Muscular Atrophy
source: pixabay.com

A College Student Started a Business to Inspire Others with Spinal Muscular Atrophy

  One of the wealthy regulars on the TV show Shark Tank made his millions by starting a home-based business selling tee shirts. An article in Bridgeport’s ctPost publication chronicles…

Continue Reading A College Student Started a Business to Inspire Others with Spinal Muscular Atrophy
Interview with Dr. Michelle Krishnan: New Therapies for Neurodevelopmental Disorders
source: pixabay.com

Interview with Dr. Michelle Krishnan: New Therapies for Neurodevelopmental Disorders

Front Line Genomics has recently interviewed Dr. Michelle Krishnan, who is the Translational Medicine Leader in Rare Diseases at Roche. She focuses on rare neurodevelopmental disorders, in which she works…

Continue Reading Interview with Dr. Michelle Krishnan: New Therapies for Neurodevelopmental Disorders
New Oral Drug for SMA may Help Young Children with the Most Severe Form of the Disease
source: pixabay.com

New Oral Drug for SMA may Help Young Children with the Most Severe Form of the Disease

Spinal muscular atrophy (SMA) currently has two approved treatment options. Just 3.5 years ago this number was zero and in another year or so, researchers are hoping to increase it to…

Continue Reading New Oral Drug for SMA may Help Young Children with the Most Severe Form of the Disease

With Post-Brexit Move to Amsterdam Complete, EMA Renews Rare Disease Focus

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two…

Continue Reading With Post-Brexit Move to Amsterdam Complete, EMA Renews Rare Disease Focus
Will Therapies for Neurological Disorders Bring Forth a New Era for Biotech?
source: pixabay.com

Will Therapies for Neurological Disorders Bring Forth a New Era for Biotech?

According to a story from BioBuzz, the innovation of a platform for the delivery of gene therapies could help trigger a golden age of development for this new class of…

Continue Reading Will Therapies for Neurological Disorders Bring Forth a New Era for Biotech?
ICYMI: The Manufacturer of Spinal Muscular Atrophy Drug Zolgensma has Made a Lottery for Life
source: pixabay.com

ICYMI: The Manufacturer of Spinal Muscular Atrophy Drug Zolgensma has Made a Lottery for Life

As originally reported in Euronews, there is limited supply of expensive medicines for rare diseases, so it can be difficult to prioritize which patients will have their lives saved when…

Continue Reading ICYMI: The Manufacturer of Spinal Muscular Atrophy Drug Zolgensma has Made a Lottery for Life
Two Sisters With Spinal Muscular Atrophy Had Very Different Outcomes
source: pixabay.com

Two Sisters With Spinal Muscular Atrophy Had Very Different Outcomes

As originally reported in Brandpoint, Kailey experienced a haunting tragedy as a child when her sister, Ashley, who was a year younger, experienced crippling symptoms from their shared progressive disease…

Continue Reading Two Sisters With Spinal Muscular Atrophy Had Very Different Outcomes
Drugmaker Novartis Launches Lottery for Access to Critical Spinal Muscular Atrophy Treatment
source: pixabay.com

Drugmaker Novartis Launches Lottery for Access to Critical Spinal Muscular Atrophy Treatment

According to a story from euronews.com, the drug maker Novartis has announced that it will give away its breakthrough spinal muscular atrophy gene therapy drug Zolgensma to 100 patients each…

Continue Reading Drugmaker Novartis Launches Lottery for Access to Critical Spinal Muscular Atrophy Treatment

Parents React to Novartis’ International “Baby Lottery” for Zolgensma with Hope But Also With Outrage

According to a recent article in Euronews, this year one hundred children who were diagnosed with spinal muscular atrophy (SMA) will receive Zolgensma, the world’s highest-priced drug, at no cost.…

Continue Reading Parents React to Novartis’ International “Baby Lottery” for Zolgensma with Hope But Also With Outrage
Close Menu