Cambridge Rare Disease Network’s RAREfest22

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The Cambridge Rare Disease Network presents RARE Fest 2022 Engage.Educate.Empower. November 25-26, 2022 WE’RE BACK IN PERSON FOR RAREFEST22!! For the experts and the curious of all ages. For everyone.…

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Science Simplified: What Are Genetic Mouse Models and How Can They Help Us Study Genetic Diseases And Develop Treatments?
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Science Simplified: What Are Genetic Mouse Models and How Can They Help Us Study Genetic Diseases And Develop Treatments?

Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science…

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INTERVIEW: Mirum’s Chris Peetz Discusses Positive Topline Data on LIVMARLI for PFIC (Pt. 1)
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INTERVIEW: Mirum’s Chris Peetz Discusses Positive Topline Data on LIVMARLI for PFIC (Pt. 1)

The American Association for the Study of Liver Disease (AASLD) held its annual Liver Meeting from November 4-7, 2022 in Washington, D.C. During the meeting, Mirum Pharmaceuticals shared two late-breaker…

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Researchers Identify New Pediatric Rare Disease: Neuro-Ocular DAGLA-Related Syndrome (NODRS)
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Researchers Identify New Pediatric Rare Disease: Neuro-Ocular DAGLA-Related Syndrome (NODRS)

More rare conditions are discovered as we learn more about the human body and genetics. For example, shares an article in Medical XPress, a research team from the University of…

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Evaluating ST-920 for Fabry Disease: An Interview with Sangamo’s Bettina Cockroft, MD, MBA
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Evaluating ST-920 for Fabry Disease: An Interview with Sangamo’s Bettina Cockroft, MD, MBA

The European Society for Gene and Cell Therapy (ESGCT) recently held its Annual Congress from October 11-14, 2022. During the ESGCT Congress, various stakeholders discussed data, trends, and new research…

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Raising Phelan-McDermid Syndrome Awareness (And How YOU Can Get Involved at the EL-PFDD Meeting!): An Interview with Geraldine Bliss (Pt. 2)
Photo courtesy of Geraldine Bliss

Raising Phelan-McDermid Syndrome Awareness (And How YOU Can Get Involved at the EL-PFDD Meeting!): An Interview with Geraldine Bliss (Pt. 2)

Before you read on, make sure to check out Part 1 of our interview with Geraldine Bliss, the President and Co-Founder of CureSHANK and mother to Charles, who has Phelan-McDermid syndrome. Today,…

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Becoming an Advocate for Phelan-McDermid Syndrome (PMS): Lacy and Avenly’s Story
Photo courtesy of Lacy Biram

Becoming an Advocate for Phelan-McDermid Syndrome (PMS): Lacy and Avenly’s Story

Prior to her daughter Avenly’s diagnosis, Lacy Biram had never before heard of Phelan-McDermid syndrome (PMS). Currently, there are an estimated 2,200-3,000 people worldwide who have this rare condition. For…

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Raising Phelan-McDermid Syndrome Awareness (And How YOU Can Get Involved at the EL-PFDD Meeting!): An Interview with Geraldine Bliss (Pt. 1)
Photo courtesy of Geraldine Bliss

Raising Phelan-McDermid Syndrome Awareness (And How YOU Can Get Involved at the EL-PFDD Meeting!): An Interview with Geraldine Bliss (Pt. 1)

On November 8th, 2022, CureSHANK is sponsoring an Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting for Phelan-McDermid Syndrome (PMS). Co-planned by the Phelan-McDermid Syndrome Foundation, this virtual EL-PFDD meeting will: [give]…

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