Hope everyone is having a wonderful Wednesday! The weather where we are is freezing this week-- but that's a perfect excuse to sit down with a few of our top…
Danon disease is a rare condition caused by a mutated LAMP-2 gene. This gene has three different forms- LAMP-2A, 2B, and 2C. Depending in which variant is mutated, individuals with…
aTTP aTTP, or acquired thrombotic thrombocytopenia purpura, is an immune condition which results in severe Thrombocytopenia. Thrombocytopenia means the body doesn't have enough platelets in the blood. In aTTP, it's caused…
Vogmask is a San Francisco, California based company founded in 2011. They create stylish facial masks to protect wearers from inhalation of particulate and allergens. These types of masks can…
According to a story from dailymail.co.uk, the story of Cayla Jones is an example of how a serious rare diagnosis can suddenly strike out of nowhere, often from symptoms that…
Bontulinum Neurotoxins (BoNTs) are a protein that are used to treat a wide array of conditions including cervical dystonia, blepharospasm, neurogenic detrusor overactivity, and sialorrhea to name a few. These proteins…
The development of gene therapy as a treatment for rare and life-threatening conditions is a quickly growing area of scientific exploration. As more drug developers have begun investing in this…
Mucolipidosis Type IV Mucolipidosis Type IV (ML-IV) is a rare disease which causes a reduced mental capacity and blindness. ML-IV is caused by a missing or malfunctioning TRPMLI protein. Most patients never…
According to a story from dailymail.co.uk, 23 year old Ruby Hill of New Zealand was recently released from the hospital, but it wasn't because she had been successfully treated. It…
According to a story from Fabry Disease News, the drug developer Avrobio recently announced that the US Food and Drug Administration (FDA) has given the company's experimental drug AVR-RD-01 Orphan…
Cameron Dixon is a 17-year-old boy living with muscular dystrophy. His family was first told that he would most likely never be able to walk, eat, or talk, and that…
What is the Disparity? America is greatly divided by many things and race has always been one of them. Not only are there large social and economic divides among racial…
The University Hospitals Birmingham in the UK is one of the four centres in the country to run a clinic for patients with Bardet-Biedl syndrome. They’ve recently written an article…
Precision mNedicine is the latest craze in rare disease research. Thankfully for patients, it is completely, 100% centered on improving the quality of their care. Unlike most typical healthcare practices,…
Spinal muscular atrophy (SMA) is a genetic condition which affects between 10,000 and 25,000 in the United States. While rare, it is currently the leading genetic cause of infant mortality. But,…
The government shutdown hasn't had any startling affects on rare disease research yet, but drug developers have voiced their concern that it could soon begin to hinder the research process.…
Happy Thursday! We hope everyone's week is going well. Today, we're highlighting a contribution from a cystinosis patient on the necessity of third-party medical providers. We're also sharing a story…
Xconomy.com has just released that funds have been raised for a variety of companies investigating therapies for rare conditions. Unfortunately, novel therapies and inventions cost million of dollars to develop. Thankfully,…
Being diagnosed with any serious condition can be scary, overwhelming, and full of unknowns. For those who are diagnosed with a rare disease such as Duchenne muscular dystrophy, spinal muscular atrophy,…
Each year the Food and Drug Administration approves dozens of new therapies to fulfill unmet needs for various patient populations. It's just been published that in 2018 they approved a…
While medical students may go into the profession dwelling on the lives they can save, the inevitable fact of the profession is that there will be times when they…
According to an article recently published by Forbes, one data scientist wants to explain why data science has proven to be slow at identifying particular biomarkers in medical patients. Imran…
As discussed in a recent article on PatientWorthy the FDNA has recently developed a new kind of algorithm which can diagnose rare genetic conditions such as Angelman syndrome, Williams syndrome, and Fragile X syndrome using…
"We want to have better ways to figure out who is non-adherent so we can focus our efforts better on those patients who may require more assistance or specific resources…
Perhaps the most difficult thing about rare disease research is that not only do the conditions affect only a small portion of the population, but like every diagnosis, they affect…
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