In the past, there has never been an approved therapeutic option for those with acid sphingomyelinase deficiency (ASMD). This meant that there was a huge unmet need within this patient…
Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science…
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…
When Kacey Lamphier was just a child, her father Edward passed away from a ruptured aorta. Following his death, Kacey and her family were also tested. It was during this…
Myrtelle, via Business Wire News, reports the completion of Phase 1/2 investigating its gene therapy for Canavan disease (CD) which they have now expanded to treat younger patients. Thus far,…
When Rachel Matthews birthed her twin boys, Aiden and Gavin, she was ecstatic. But just a day or two after Rachel had returned home with her boys, she received a…
The question plaguing the geneticists about the Burns family was: how have they survived? In 2016, several geneticists theorized that certain people may have a good-gene bad-gene scenario taking place…
According to a relatively recent news release from biopharmaceutical company Maze Therapeutics, the company has begun dosing healthy volunteers in a Phase 1 clinical trial. During the trial, researchers are…
Dr. Douglas Marchuk, professor of genetics at Duke, has spent years studying the genetics of cardiovascular disease. According to a recent article in the Atlantic, his research at the University…
When Sam Anderson was thirteen years old, he was diagnosed with familial adenomatous polyposis (FAP), a rare inherited disorder. As he grappled with his diagnosis and symptoms, Sam also…
CFTR gene mutations cause cystic fibrosis, a rare genetic condition which causes progressive digestive and respiratory system damage. Yet it can be extremely difficult to treat for those with “stop”…
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As we know, it can be incredibly difficult to receive the proper diagnosis for a rare disease. In fact, it typically takes at least seven years and numerous doctor's appointments.…
February 15, 2013 marked the first-ever International Angelman Day. The day, still celebrated nine years later, aims to raise global awareness for Angelman syndrome. Additionally, International Angelman Day serves to…
Positive results were announced today by Anavex Life Sciences, which is based in New York, for its Phase 3 clinical trial of Anavex 2-73. Participants in the trial were female…
Those with recessive dystrophic epidermolysis bullosa (RDEB) have fragile, easily blistered skin. Unfortunately, because of dysfunctional tissue repair, wounds may take longer to heal – causing increased levels of scarring…
Vision loss is a symptom associated with a number of disorders, one of which is Usher syndrome. Medical professionals have spent years trying to fully comprehend the underlying mechanisms of…
Cannabidiol (CBD) has recently been lauded for its many uses, ranging from stress relief to seizure reductions. Specialty pharmaceuticals company Zynerba Pharmaceuticals (“Zynerba”) developed an experimental cannabidiol gel called Zygel…
Recently, Chain Drug Review reported that the FDA had approved a generic form of colchicine pills (normally prescribed as Mitigare, Colcrys, or Gloperba) for the treatment of familial Mediterranean fever (FMF).…
In the past, there have been little to no concrete studies evaluating the relationship between hereditary angioedema (HAE) and cancer risk. However, researchers questioned whether some sort of relationship could…
When she was born, Savannha Aretino was diagnosed with hypophosphatasia, a rare genetic disorder characterized by bone and teeth development abnormalities. Now, twenty-three years later, Savannha is working to not…
In a news release from January 4, 2022, biopharmaceutical company SpliSense shared that their drug candidate SPL84-23-1 for cystic fibrosis (CF) earned Orphan Drug designation in both the United States…
According to a news release from RNA therapeutics company ProQR Therapeutics N.V. ("ProQR"), the first patients have been dosed in two Phase 2/3 clinical trials evaluating QR-421a for USH2a-mediated retinitis…
Allegra Sturdevant, age 21, averages thousands of views on her TikTok videos, many of which describe her experiences with Marfan syndrome. According to an article in The Daily Universe, the…
According to a recent article, a little boy’s parents are bringing awareness to the rare genetic disorder called uncombable hair syndrome after he was diagnosed at just 14 months old.…
According to Pharmacy Times, the FDA recently granted Priority Review status to luspatercept-aamt (Reblozyl). The therapy, for which its developer has submitted a supplemental biologics license application (sBLA), is designed…
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