NOTA, The Network of Tyrosinemia Advocates, held their 4th Annual NOTA Experience, a family conference in September, despite the extraordinary constraints of time, a pandemic, transportation challenges, and the special…
Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most…
This past week, Cycle Pharma announced FDA approval of a once daily dose of NITYR for patients with hereditary tyrosinemia type 1 (HT-1). According to its prescribing information, NITYR…
Happy Friday! Sept. 24 is FH Awareness Day. Familial hypercholesterolemia is a gentic disorder characterized by the inability of the body to remove LDL -- sometimes called "bad cholesterol" --…
Tyrosinemia is a metabolic disorder which prevents the body from processing the amino acid tyrosine. Without treatment, the disorder can be lethal. There are three different types of tyrosinemia with…
By Caitlin Seida from In The Cloud Copy CRISPR-Cas9, often called just CRISPR, is a technique used to quickly edit DNA to alter gene functions. Think of it like the…
India first drafted a national rare disease policy back in 2017. Unfortunately, it was never enacted due to budgeting and implementation issues. This draft included suggestions such as a corpus…
September is Tyrosinemia Awareness Month! The good people of the Network Of Tyrosinemia Advocates (N.O.T.A.) have organized a family weekend later this month aimed to bring the Tyrosinemia community together. Let's…
Albinism There are many different forms of oculocutaneous albinism (OCA), all caused by different genetic mutations to the genes responsible for producing melanin. Melanin is a pigment which is present…
There is a great unmet medical need for patients living with metabolic disorders. There are few approved treatments for these conditions and many are fatal. These diseases include phenylketonuria, homocystinuria, tyrosinemia, and maple syrup…
According to a story from Business Wire, the drug developer Cycle Pharmaceuticals recently announced that is has completed its goal to obtain the necessary data regarding the stability of its…
Gene editing has come a long way as a treatment option in the last several years. Rapid advances in technology continue to find more and more novel therapies. According to…
Researchers have succeeded in editing genes to prevent a metabolic disorder called hereditary tyrosinemia type 1 (HT1) in animals while they are still in the womb. The team, who are…
According to a story from medicalxpress.com, a team of scientists at the University of Massachusetts Medical School have successfully developed a strategy for editing genes that could be used to…
It's a parent's worst nightmare-- a rare disease that strikes early in life, and without treatment, can cause a patient's death. Tyrosinemia type 1 (TYR1), is a form of a…
According to a story from biomedcentral.com, doctors have begun screening infants for tyrosinemia type 1. However, it is still unclear how accurate the screening process for this genetic disorder is.…
Cycle Pharmaceuticals shook hands with US-based firm, Aprecia Pharmaceuticals as they agreed to develop and commercialize treatments for rare diseases using the advanced technology of 3D printing, recently reported Cambridge…
"Mom! What’s for dinner?" It’s a question that strikes fear in the hearts of matriarchs everywhere. Meats, breads, vegetables—you know the basics. Now add in a picky eater or someone…
If dance is the universal language, then what does NC State’s annual Dance Marathon have to say--especially to type 1 tyrosinemia (TYR)? A lot, it turns out. The numbers seem…
If you lost a child to a rare disease and knew there was a 1 in 4 chance that it could happen again, would you try for more children? That…
Tyrosinemia is an inherited metabolic disorder that inhibits the body’s ability to process or break down essential amino acids found in common foods that are consumed. Tyrosinemia Type 1 attacks…
Tyrosinemia is a hereditary disease that causes a disruption in the body's ability to break down tyrosine, an amino acid. The liver lacks the correct enzyme and, as a result, it…
Mahatma Gandhi taught that we should endeavor to be the change that we wish to see in the world. (I believe Gandhi may have been on to something). I'm wondering…
De acuerdo, Dr.House: Tenemos padres por primera vez que afirman su recién nacido es "irritable, inquieto, vómitos explosivos, y se niega a comer." Aunque también decir que el niño tiene…
¿Quién sabía que el colonialismo podría ser una de las principales causas de las enfermedades raras ?! Al menos, ese es el caso de muchos quebequenses. La tirosinemia, que afecta…
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