When Crystal York learned that her daughter Harmony had a rare genetic disease called DHX30, she was shocked. Even more shocking is that Harmony is just one of 40…
Debbie Ferlito had always lived an active life. There was nothing she loved more than throwing herself into athletics, than testing the limits of her body. And she was…
Currently, there are an estimated 10,000 known rare diseases (and counting). As we learn more about our genetic makeup, and how genetic alterations can cause disease, we continue to…
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…
As bluebird bio ("bluebird") waited on FDA feedback regarding the manufacturing process for lovotibeglogene autotemcel (lovo-cel) genetherapy, the company disclosed that it would most likely miss its Q1 submission…
A primary immunodeficiency (PI), or primary immune deficiency disease, is an inherited immune system disorder caused by gene mutations which prevent the immune system from functioning properly. It can…
Before you read on, don't forget to check out Part 1 of our interview. In Part 1, Alex discusses the multi-year diagnostic odyssey to discover that Raymond has VAMP2. Today, we talk…
In the United States, rare diseases are defined as those affecting fewer than 200,000 people. In the cases of ultra-rare conditions, there is often even less research, less resources, and…
Unfortunately, life has not always been kind to Zahid Bashir and Sobia Qureshi. The couple lost two children to Pompe disease, a rare genetic disease caused by GAA gene mutations.…
“Together, we can do hard things.” That’s the mission of Clara Inspired, a nonprofit organization that aims to raise awareness and funds to cure genetic disorders like STXBP1 disorders. It’s…
If you haven't already, don't forget to go and read Part 1 of our interview. In Part 1, David Ogman and I discuss his son Jordan's TECPR2 diagnosis, the diagnostic journey,…
There seems to be no limits when it comes to what a parent will do for their child. And when it came down to it, David and Stacey Ogman knew…
For five years, 20-year-old Christopher Backlund lived with his grandfather, with whom he had a strong and meaningful bond. Unfortunately, Christopher's grandfather, Mitchell, passed away in Februay 2021. As Christopher…
For the first three years of Brody Koslowski's life, he seemed - on the surface - to be a healthy, happy boy. So his parents, Matt and Molly, were…
This year, the 2022 MDA Clinical & Scientific Conference began March 13, 2022 and is lasting through March 16, 2022. During the conference, stakeholders will discuss a variety of clinical…
There are three subsets of Von Willebrand disease (vWD), a genetic bleeding disorder. Type 3 is considered to be the most severe form of vWD, culminating in intense or severe…
Within 48 hours following her son Kylan's birth, Emily Bussenschutt had already visited three separate hospitals searching for a diagnosis. 9Honey explains that Kylan was born with epidermolysis bullosa…
Prior to February 2022, there were no approved disease-modifying therapies for those with pyruvate kinase (PK) deficiency. However, this has recently changed! According to a news release from biopharmaceutical company…
24-year-old Georgia Hughes was concerned when she noticed that her son Myles, age 3, had missing teeth. After a number of doctor visits and MRIs, Myles was diagnosed with 4H…
Meniere's disease is a rare inner ear disorder characterized by "attacks" of tinnitus, ear pain, ear pressure, and dizziness. While doctors have long pondered the exact cause of this condition,…
According to a recent article, a Vietnam veteran is spreading awareness about the struggles of accessibility for treatments for his rare genetic disease alpha-1 antitrypsin deficiency (A1AD). Alpha-1 Antitrypsin Deficiency…
Each year, researchers make new strides into genetic research, including the discovery of new genetic disorders. According to Medical XPress, researchers from the University of Portsmouth and the University of…
In a press release from early March 2021, cell therapy company CiRC Biosciences, Inc. ("CiRC") shared that its chemically induced photoreceptor-like cells (CiPCs) received Orphan Drug designation from the FDA.…
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