Navigating Clinical Trials: A Guide for Rare Disease Patients

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Navigating Clinical Trials: A Guide for Rare Disease Patients

A condition is defined as a rare disease if it affects fewer than 200,000 individuals. Approximately 7,000 conditions meet this definition. In 2016, the United States Food and Drug Administration awarded $23 million dollars towards a four year period that supported research for 21 different rare diseases. However, most rare diseases lack disease-modifying therapies or effective medications for several reasons…

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He Suffered from a Rare Cancer Before the Age of Two. What was wrong?

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He Suffered from a Rare Cancer Before the Age of Two. What was wrong?

Before the age of two, Viktor Pataki’s parents discovered there was something wrong with their son. His young life was just beginning and they were desperate for answers.

Doctors discovered that Viktor had a rare form of cancer called Langerhans Cell Histiocytosis (LCH).

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Update from Global Genes Summit - A brief chat with Jane Gunther (CureCADASIL Association)

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Update from Global Genes Summit - A brief chat with Jane Gunther (CureCADASIL Association)

In September, I made my first trip out to the West Coast for my first ever rare disease conference--the Global Genes Patient Advocacy Summit. This conference is the largest gathering of rare disease stakeholders in the world, and it’s an opportunity to meet new people, make connections, and learn from the experts.

Through Jane I learned about a new rare disease, CADASIL, which stands for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. In layman’s terms, CADASIL is a genetically inherited disease where just one defective NOTCH3 gene copy on chromosome 19 (from mom or dad) is enough to cause the small blood vessel walls within the white matter of the brain to thicken, making blood circulation more challenging. Eventually, the poor blood flow can lead to a total blockage that triggers a stroke. This results in brain lesions of dead tissue that are responsible for the subsequent cognitive deficits that ultimately lead to dementia.

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Aware for Rare: Shortage of Genetic Specialists & Dealing with the established standards of Clinical Practice - PART IV

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Aware for Rare: Shortage of Genetic Specialists & Dealing with the established standards of Clinical Practice - PART IV

Part IV of the series discusses the shortage of genetics specialists, limited medical knowledge, dealing with established standards of clinical practice and the challenge of integrating extensive information.


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Aware for Rare: Exploring Current Challenges in Rare Disease - PART III

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Aware for Rare: Exploring Current Challenges in Rare Disease - PART III

Part III of the series details some of the other challenges in the rare disease space: continued confusion and not knowing even after diagnosis, scattered rare disease communities, and getting the attention of governments to intervene.


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All of Us Research Program

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All of Us Research Program

It’s been 16 years since the first human genome was sequenced. That undertaking took almost 15 years, cost billions of dollars, and revolutionized genetic research. Since then, new sequencing technologies have led to lower sequencing costs and quicker turnaround times. Sequencing a genome today takes weeks rather than years and costs thousands, not billions.


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