Rare Disease Clinical Trials Are Essential to Help Uncover Potential Patient Solutions: Spotlight on Classic Congenital Adrenal Hyperplasia (CAH)

Acknowledgment: This story is sponsored by Neurocrine Biosciences and is promoted through the Patient Worthy Collaborative Content program. We only publish content that embodies our mission of providing relevant, vetted,…

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The National Society of Genetic Counselors has Joined Patient Worthy as an Advocacy Partner
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The National Society of Genetic Counselors has Joined Patient Worthy as an Advocacy Partner

Patient Worthy is delighted to announce that the National Society of Genetic Counselors (NSGC) has joined us as an advocacy partner! Genetic counselors play a critical role for individuals, families,…

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The Latest Webinar from NORD Showcases the Rare Disease Patient Experience
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The Latest Webinar from NORD Showcases the Rare Disease Patient Experience

On April 28, 2022, the National Organization for Rare Disorders (NORD) and the Rare Disease Diversity Coalition hosted a webinar program titled "Walk in Our Shoes: The Experience of Rare…

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Accelerating the Journey to Rare Disease Treatment: An Interview with Katheron Intson of Varient (Pt. II)
Katheron Intson

Accelerating the Journey to Rare Disease Treatment: An Interview with Katheron Intson of Varient (Pt. II)

Don't forget to check out Part 1 of our interview with Katheron Intson, where we discussed her background, her research experience in GRIN1, and the reasons behind why she developed…

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Accelerating the Journey to Rare Disease Treatment: An Interview with Katheron Intson of Varient (Pt. 1)
Katheron Intson

Accelerating the Journey to Rare Disease Treatment: An Interview with Katheron Intson of Varient (Pt. 1)

Katheron Intson is a passionate scientist; she likes understanding how and why things work the way that they do. So when Katheron’s friend reached out about a mysterious health problem,…

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Researchers Determine Effective Therapeutic Candidates for Crimean-Congo Hemorrhagic Fever
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Researchers Determine Effective Therapeutic Candidates for Crimean-Congo Hemorrhagic Fever

Endemic in areas of Africa, southeast Europe, Central Asia, and the Middle East, Crimean-Congo hemorrhagic fever is an often-fatal viral illness which can cause severe issues. Researchers estimate that this…

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New Therapies Bring Hope for Improving the Outcomes of Pediatric Patients with Rare Disorders

According to a recent article, at the American Academy of Neurology annual meeting in 2022, the importance of disease-modifying therapies for patients diagnosed with rare pediatric disorders was highlighted. Lisa…

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Advocates Ask that the Same Effort Used for COVID Drug Discovery Be Used for Rare Diseases

Dr. Christopher Austin, a National Institute of Health Director for Transitional Sciences, spoke at last year’s virtual conference honoring Rare Disease Day. According to an article in the NIH Record, Dr.…

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An Innocent-Looking Shadow on Her Thumbnail Turned Out to be Subungual Melanoma
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An Innocent-Looking Shadow on Her Thumbnail Turned Out to be Subungual Melanoma

Maria’s message is: “when in doubt, get a biopsy." Ten years ago, Maria Sylvia noticed a vertical streak on her thumbnail that at the time she thought was “cool." She…

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Investigators Introduce Tool for Establishing Gene-Disease Relationships in Rare Disease
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Investigators Introduce Tool for Establishing Gene-Disease Relationships in Rare Disease

  According to a recent article, investigators have proposed a checklist that will aid in determining the strength of potential gene-disease relationships for rare disease. The Need It has already…

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Survey of Healthcare Providers Articulates What They Need to Improve Rare Disease Care
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Survey of Healthcare Providers Articulates What They Need to Improve Rare Disease Care

Definitive Healthcare launched a survey in November 2021 to help physicians, researchers, and the rare community understand what the biggest challenges are for providing a rare disease diagnosis and treating…

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