• Mashup Score: 1

    Dr. Lisa Forbes Satter provides an overview of Primary Immunodeficiency (PI) and getting a proper diagnosis.

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    • Lisa Forbes Satter, MD, Associate Professor of Pediatrics at Baylor College of Medicine, explains why it often takes years to properly diagnose Primary Immunodeficiency #PI #checkrare #rarediseases @WorldPIWeek @ImmunoUK @ImmunoCanada https://t.co/dLJ8IYcU6P

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    Richard Auchus, MD, PhD Professor at the University of Michigan, discusses the latest clinical research presented at ENDO 2022.

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    • This CME program, hosted by Richard Auchus, MD, Professor at the University of Michigan, provides an overview of the latest clinical research involving Cushing’s disease and Cushing’s syndrome. #Cushings @UMichMedSchool @CushingsConnect https://t.co/SYbTzRqnJI https://t.co/JpSoh5WTKJ

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    Dr. Milan Radovich summarizes the company’s comprehensive clinico-genomic database to advance targeted cancer therapy.

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    • Milan Radovich, PhD, Chief Scientific Officer at Caris Life Sciences, summarizes the company’s comprehensive clinico-genomic database being used to advance targeted therapy for various cancer types #checkrare #rarediseases #cancertherapies @carisls https://t.co/8n9BwCgVLg

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    Dr. Peter Marks of the FDA talks about the safety of clinical trials, including those focused on gene therapy.

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    • Peter Marks, MD, Ph.D., Director, Center for Biologics Evaluation and Research #CBER at the U.S. Food and Drug Administration #FDA talks about the safety of clinical trials #checkrare #rarediseases @FDACBER https://t.co/l1k2vVH3CY

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    Dean Suhr of the MLD Foundation provides an update on the latest clinical and diagnostic advances being made to better manage MLD patients.

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    • Dean Suhr of the MLD Foundation provides an overview of the latest clinical milestones in diagnosing and treating metachromatic leukodystrophy #MLD #checkrare #rarediseases @MLDfoundation @MLDfoundationUK https://t.co/n0L4JqKQOT

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    Brenna Brentley, of the United MSD Foundation, explains early symptoms of  multiple sulfatase deficiency (MSD) that often leads to a diagnosis.

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    • Brenna Bentley, MS, GCG, genetic counselor and patient research coordinator for the United MSD Foundation, lists some common symptoms observed in children with multiple sulfatase deficiency #MSD #checkrare #rarediseases @CureMsd https://t.co/NH3TnqbBBy

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    Rett Syndrome - 2 year(s) ago

    Rett syndrome is a multisystem disorder that primarily affects girls; multiple loss-of-function mutations to the MECP2 gene are the cause of this rare disease.

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    • Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of #Rettsyndrome @rettsyndnews https://t.co/0xP5Crw4yw

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    Dr. Chadi Nabhan summarizes the Caris Precision Oncology Alliance and some of the abstracts the alliance presented at ASCO 2023.

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    • Chadi Nabhan, MD, of Caris Life Sciences, summarizes the Caris Precision Oncology Alliance and some of the abstracts the alliance presented at ASCO 2023 #checkrare #rarediseases #precisiononcologyalliance @carisls https://t.co/B7CWACRpas