For decades researchers have had to isolate segments of genes in order to study them. They called the isolated gene a “mini gene.” Ravindra Singh, a biomedical science professor at…
₹17.5 crores—or $2,102,128. That's the cost of medication for a young boy named Kanav, who lives in Najafgarh, a town in the Southwest Delhi district. Kanav is living with…
Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…
When Adrienne Vollmer first learned that her son Graham had spinal muscular atrophy (SMA), she was shocked. At the time, there were no FDA-approved treatments (three now exist). The life…
Each summer advocates for rare diseases take advantage of longer daylight hours and use the opportunity to showcase the hopes, needs, and wants of people with rare diseases such as,…
Orphan drug designation was first introduced to the European Union in 2000. The designation is granted to therapies intended to treat, diagnose, or prevent a rare, life-threatening, or chronically…
John knew from an early age that he not only loved music but had confidence in his musical ability. However, there was another very troubling issue in his life. John…
In March 2023, 14-year-old Rylie Erbacher visited Washington, D.C. for a one-of-a-kind experience. The teen, who has spinal muscular atrophy (SMA) type 2, was one of just 10 people nationally…
You caught me: I'm a Swiftie. I first saw Taylor Swift on her Speak Now tour and, in 2 weeks, am taking on the Eras tour in Philadelphia (PS: if you have any…
Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…
For the first year of his life, Celebi Remillard and his mother Tatyana frequently took the drive from Klamath Falls to Portland to visit his care team. When Celebi was…
After Tabitha Wright heard the news from the doctor, her heart dropped. Her daughter Aspen had just been diagnosed with spinal muscular atrophy (SMA) type 1, a rare genetic…
On August 25th, 2022, the American Society of Gene & Cell Therapy held a webinar as part of its Lunch and Learn series, which is intended to help people living…
August has begun and you know what that means – it is Spinal Muscular Atrophy (SMA) Awareness Month! During this month, many patients, advocacy groups, family members, and others work…
In clinical trials evaluating Zolgensma for children with spinal muscular atrophy (SMA), the maximum weight of participants was 18.7 pounds. However, parents with children weighing over that weight might be…
Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…
What type of cognitive changes are present in individuals with spinal muscular atrophy (SMA) type 3? More so, do these cognitive changes affect clinical factors and, if so, how? According…
Altogether, there are multiple subtypes of spinal muscular atrophy (SMA), a rare genetic disorder causing muscle weakness and generation. Four months ago, Aniya Porter was born with type I, a…
The American Academy of Neurology (AAN) held its Annual Meeting from April 22-28, 2022. During the meeting, various stakeholders discussed trends, science, and research within the field of neurology. According…
When it comes to finding treatments for diseases, whether they're common or rare, the process doesn't always start from scratch. In many cases, existing drugs are taken and studied in…
The following story was told to R29 Fertility Diaries by a 34-year-old mother and her husband. The newly married couple was anxious to be parents. Even after the loss of…
According to a recent article, a study in Estonia looked at the prevalence and characteristics of spinal muscular atrophy (SMA) over the last 24 years to aid in implementing SMA…
According to a recent article in SMA News Today, more spinal muscular atrophy (SMA) patients in the United Kingdom (UK) will have access to Zolgensma. This change comes after the…
PTC Therapeutics Inc. has just announced that their supplemental new drug application for Evrysdi (risdiplam) has been given priority review by the FDA. The aim is to expand the indication…
When Rhonda Stevey met her grandson, Koehyn, she was immediately smitten. The grandmother, who lives in Ohio, felt like her grandson was the happiest infant she had ever met. Unfortunately,…
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