Rare Disease Discussions

Peter Ciszewski, CheckRare
  • 5.0 (3)
  • MEDICINE
  • UPDATED BIMONTHLY

News and clinical perspective including CME programs focused on rare diseases. CheckRare focuses on rare and neglected diseases.

  1. Diagnosis and Management of Plasminogen Deficiency

    1D AGO

    Diagnosis and Management of Plasminogen Deficiency

    Amol Sura, MD, Foster Center for Ocular Immunology, Dept of Ophthalmology, Duke University, Durham, North Carolina, discusses the diagnosis and management of plasminogen deficiency, a rare condition in which the eyes are first affected, but it manifests in mucous membranes throughout the body. “The eyes are a window into the health of the entire body,” said Dr. Sura, and that is precisely the case for patients with plasminogen deficiency type 1 (PLGD-1). For this rare, inherited condition, the first symptom observed is the growth of ligneous or wood-like lesions on the surface of the eye or eyelid (in about 80% of patients, first seen at ages 9–10 months). It is often characterized as ligneous conjunctivitis.  If left untreated, PLGD-1 may result in severe—even life-threatening—complications, affecting mucous membranes in many other areas of the body, including the respiratory tract, central nervous system, gingiva, and genitourinary tract. Vision loss, tooth loss, and other serious outcomes have been reported.  In this homozygous condition involving the PLG gene, the plasminogen protein is defective; it cannot effectively perform its intended function of breaking down fibrin. The result is the formation of fibrin clots appearing as ligneous growths or pseudomembranes. Once removed, these lesions reappear, and this should tip off the physician (most often an ophthalmologist) that something systemic is the cause. The diagnosis of PLGD-1 is straightforward: A blood test showing decreased plasminogen activity levels is confirmatory. A genetic test is not necessary.  In the past, management of PLGD-1 was through the use of off-label therapies, including heparin eyedrops, immunologics, and plasma infusions. A form of intravenous human plasminogen was approved by the U.S. Food and Drug Administration in 2021, and this is considered the standard of care today. With this therapy, plasminogen plasma levels can be restored, lowering the risk of new fibrin clots throughout the body.  For newly diagnosed patients, the best advice for caregivers is to establish a relationship with a hematologist, who will serve as the principal care provider. Although a multidisciplinary care team is required (e.g., ophthalmology, obstetrics/gynecology, dentistry), the need for other specific providers will depend on the other organs or sites affected.  Dr. Sura believes that PLDG-1 is underdiagnosed, but with increasing awareness, and the availability of effective treatment, diagnosis and management of these patients can be improved today. For more information on PLGD-1, visit https://checkrare.com/plasminogen-deficiency-fibrin-accumulation-and-its-effects-on-patients-2/

    9 min
  2. Submission of New Drug Application: Rusfertide for Polycythemia Vera

    FEB 17

    Submission of New Drug Application: Rusfertide for Polycythemia Vera

    Dinesh Patel, PhD, CEO of Protagonist Therapeutics, discusses the New Drug Application (NDA) submission to the US Food and Drug Administration (FDA) for rusfertide to treat adults with polycythemia vera (PV). PV is characterized by excess red blood cells in the bloodstream, increasing the risk for blood clots. Most cases of PV are acquired and occur more frequently in men than in women. The condition has been associated with genetic changes in the JAK2 and TET2 genes. Rusfertide is an investigational first-in-class subcutaneously administered hepcidin mimetic peptide designed to regulate iron homeostasis and red blood cell production to control hematocrit levels in patients with PV. The NDA submission is based on positive 32-week primary analysis and 52-week results from the phase 3, global, randomized, placebo-controlled VERIFY clinical trial (NCT05210790). In this study, patients receiving rusfertide plus standard of care therapy demonstrated a substantially higher response rate compared to placebo plus standard of care, including durable hematocrit control, a reduction in phlebotomy requirements and improvement in pre-specified patient reported outcome endpoints. Rusfertide has received Breakthrough Therapy Designation, Orphan Drug Designation, and Fast Track Designation from the FDA.

    19 min
  3. Current Issues in Gene Therapies for Lysosomal Disorders

    12/31/2025

    Current Issues in Gene Therapies for Lysosomal Disorders

    Shunji Tomatsu, MD, PhD, Professor and Head, Nemours Children’s Health, Delaware, USA; Alessandra d’Azzo, PhD, Emerita Faculty, Genetics, St. Jude Children’s Research Hospital, Tennessee, USA; Merve Emecen Sanli, MD, Associate Professor, Department of Pediatrics, University of Texas Southwestern Medical Center, Texas, USA; and Ryan Colburn, patient with Pompe disease and president of Odimm Inc, discuss new and emerging gene therapies for lysosomal disorders. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To obtain CME/CE credit, please visit https://checkrare.com/learning/p-grids2025-session6-current-issues-in-gene-therapies-for-lysosomal-disorders/   Learning Objectives Describe current and emerging gene therapy data in lysosomal disorders and its clinical relevanceDescribe role of patients in gene therapy development Faculty Shunji Tomatsu, MD, PhD, Professor and Head, Nemours Children’s Health Alessandra d’Azzo, PhD, Emerita Faculty, Genetics, St. Jude Children’s Research Hospital Merve Emecen Sanli, MD, Associate Professor, Department of Pediatrics, University of Texas Southwestern Medical Center Ryan Colburn. Odimm, Inc. Disclosures AffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program. Shunji Tomatsu, MD, PhD  Dr. Tomatsu has received the following grants: Morquio Foundations and families: Scarlett Grifith, Bennett, A Cure for Roberts, and Morquio Conference; MPS Societies: Japanese, National, and Austrian; NIH grants: 1-R01-HD102545, NIH, NICHD, Tomatsu (PI), 1R01HD104814-01A1, NIH, NICHD, Langan, T.J. (PI), Role: Site-PI, R43HD114328-01, NIH, ACOSTA, WALTER (PI), Role: site PI, 1R43AR084638-01, NIH, MOUNZIH, KHALID (PI); Foundation of NIH: FNIH RFP NUMBER: 2022-BGTC-005 Tomatsu (PI).  Alessandra d’Azzo, PhD Dr. D’Azzo has no relevant financial relationships to disclose. Merve Emecen Sanli, MD Dr. Sanli has no relevant financial relationships to disclose. Ryan Colburn Mr. Colburn has an advisory, consulting and/or project based relationship or stock holding with: Abeona Therapeutics, Amicus Therapeutics, Astellas Gene Therapies, Avidity Biosciences, Bayer, Catalyst Pharmaceuticals, Denali Therapeutics, M6P Therapeutics, Sangamo Therapeutics, Sanofi, Solid Biosciences. Mitigation of Relevant Financial Relationships AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer. Accreditation and Credit Designation Physicians This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians. AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physician Assistants AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity. Nurses AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit. Nurse Practitioners AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity. Genetic Counselors AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Genetic Counselors should claim only the credit commensurate with the extent of their participation in the activity. Other Professionals All other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.  Participation Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    1h 47m
  4. Theranostics and Lysosomal Disorders

    12/31/2025

    Theranostics and Lysosomal Disorders

    Duarte C. Barral, PhD, Associate Professor, NOVA Medical School, NOVA University of Lisbon, Portugal; Nuno Raimundo, PhD, Associate Professor, Department of Cellular and Molecular Physiology; Penn State College of Medicine, Pennsylvania, USA; Betul Celik, PhD, Postdoctoral Fellow, Nemours Children’s Health, Delaware, USA; and Gregory Newby, PhD, Assistant Professor, Department of Genetic Medicine, Johns Hopkins School of Medicine, Maryland, USA, discuss the principles of theranostics and its application in lysosomal disorders. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To obtain CME/CE credit, please visit https://checkrare.com/learning/p-grids2025-session5-theranostics-and-lysosomal-disorders/  Learning Objectives Describe lysosomal and inter-organelle mechanisms that contribute to pathology in lysosomal disorders, and how these pathways are being leveraged for diagnostic and therapeutic applications. Describe current and emerging theranostic strategies for lysosomal disorders. Faculty Duarte C. Barral, PhD, Associate Professor, NOVA Medical School, NOVA University of Lisbon,  Nuno Raimundo, PhD, Associate Professor, Department of Cellular and Molecular Physiology; Penn State College of Medicine Betul Celik, PhD, Postdoctoral Fellow, Nemours Children’s Health Gregory Newby, PhD, Assistant Professor, Department of Genetic Medicine, Johns Hopkins School of Medicine Disclosures AffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program. Duarte C. Barral, PhD  Dr. Barral’s group receives grant support from Sea4Us. Nuno Raimundo, PhD Dr. Raimundo has no relevant financial relationships to disclose. Betul Celik, PhD Dr. Celik has no relevant financial relationships to disclose. Gregory Newby, PhD Dr. Newby has no relevant financial relationships to disclose. Mitigation of Relevant Financial Relationships AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer. Accreditation and Credit Designation Physicians This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians. AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physician Assistants AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity. Nurses AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit. Nurse Practitioners AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity. Genetic Counselors AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Genetic Counselors should claim only the credit commensurate with the extent of their participation in the activity. Other Professionals All other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.  Participation Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    1h 46m
  5. Expanded Applications of AI in Lysosomal Disorders

    12/31/2025

    Expanded Applications of AI in Lysosomal Disorders

    Oral Alpan, MD, Immunologist, Amerimmune, Virginia, USA; Svenja Keller, PhD student, University of Zurich, Switzerland; Shoshana Revel-Vilk, MD, PhD, Director, Gaucher Unit & Pediatric Hematology/Oncology Unit, Shaare Zedek Medical Center, Jerusalem, Israel; Patrick Deegan, MD, Consultant Metabolic Physician, University of Cambridge, UK; and Ravi Kamath, MD, PhD, Head of Musculoskeletal Radiology, Inova Health System, Virginia, USA, discuss the applications of AI in the diagnosis and treatment of lysosomal disorders. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To obtain CME/CE credit, visit https://checkrare.com/learning/p-grids2025-session4-expanded-applications-of-ai-in-lysosomal-disorders/ Learning Objectives Describe how emerging AI and machine learning technologies are advancing disease modeling and biomarker development.Describe how emerging AI and machine learning technologies are advancing therapeutic target identification across lysosomal disorders. Faculty Oral Alpan, MD, Immunologist, Amerimmune Svenja Keller, PhD student, University of Zurich Shoshana Revel-Vilk, MD, PhD, Director, Gaucher Unit & Pediatric Hematology/Oncology Unit, Shaare Zedek Medical Center Patrick Deegan, MD, Consultant Metabolic Physician, University of Cambridge Ravi Kamath, MD, PhD, Head of Musculoskeletal Radiology, Inova Health System Disclosures AffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program. Oral Alpan, MD  Dr. Alpan has no relevant financial relationships to disclose. Svenja Keller Ms. Keller has no relevant financial relationships to disclose. Shoshana Revel-Vilk, MD, PhD Dr. Revel-Vilk receives grant/research support from Sanofi and Takeda. She is a member of the Speakers Bureau for Sanofi and Takeda, and a member of the Advisory Board for Takeda. Patrick Deegan, MD Dr. Deegan is a consultant and advisory board member with Sanofi, Takeda, and Amicus. He also receives research support from Sanofi and Amicus. Ravi Kamath, MD, PhD Dr. Kamath is on an advisory board for Intrinsic Therapeutics. He is also a consultant for Sanofi, Takeda, and Spur Therapeutics. Mitigation of Relevant Financial Relationships AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer. Accreditation and Credit Designation Physicians This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians. AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physician Assistants AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity. Nurses AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit. Nurse Practitioners AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity. Genetic Counselors AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Genetic Counselors should claim only the credit commensurate with the extent of their participation in the activity. Other Professionals All other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.  Participation Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    2h 1m
  6. Organoids and Lab-Grown Models in Lysosomal Disorders

    12/31/2025

    Organoids and Lab-Grown Models in Lysosomal Disorders

    Mia Horowitz, PhD, Tel Aviv University; Aitor Aguirre, PhD, Michigan State University, Michigan, USA; and Ying Sun, PhD, University of Cincinnati, discuss the use of organoid models in lysosomal disorder research and drug development. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To obtain CME/CE credit, visit https://checkrare.com/learning/p-grids2025-session3-organoids-and-lab-grown-models-in-lysosomal-disorders/ Learning Objectives Describe the use of heart organoid models to better understand the pathophysiology of lysosomal disorders and its clinical relevanceDescribe the use and application of brain organoid models in neuropathic Gaucher disease research and treatment Faculty Mia Horowitz, PhD, Shmunis School of Biomedicine and Cancer Research, George S. Wise Faculty of Life Sciences, Tel Aviv University. Aitor Aguirre, PhD, Associate Professor of Biomedical Engineering, Institute for Quantitative Health Science and Engineering, Chief, Division of Developmental and Stem Cell Biology (IQ), Director, MSU Stem Cell Core, Michigan State University. Ying Sun, PhD, Professor, Cincinnati Children’s Hospital Medical Center, University of Cincinnati. DisclosuresAffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program. Mia Horowitz, PhD Dr. Horowitz has no relevant financial relationships to disclose. Aitor Aguirre, PhD Dr. Aguirre has no relevant financial relationships to disclose. Ying Sun, PhD Dr. Sun receives research support from Enkefalos Biosciences and Yuhan Corporation. Mitigation of Relevant Financial Relationships AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer. Accreditation and Credit Designation Physicians This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians. AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physician Assistants AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity. Nurses AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit. Nurse Practitioners AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity. Genetic Counselors AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Genetic Counselors should claim only the credit commensurate with the extent of their participation in the activity. Other Professionals All other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.  Participation Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    1h 36m
  7. Nanotechnology and Lysosomal Disorders

    12/31/2025

    Nanotechnology and Lysosomal Disorders

    Stephan Stern, PhD, DABT, Director of Research and Development, Nanotechnology Characterization Lab (NCL), Frederick National Laboratory for Cancer Research, Maryland, USA; and Ruben Boado, PhD, Professor of Medicine, University of California at Los Angeles, California, USA, discuss the use of nanotechnology in the treatment of lysosomal disorders. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To obtain CME/CE credit, visit https://checkrare.com/learning/p-grids2025-session2-nanotechnology-and-lysosomal-disorders/ Learning Objectives Describe recent advances in the use of nanotechnology to treat lysosomal disordersDescribe the role of nanotechnology in addressing unmet needs in lysosomal disorders Faculty Stephan Stern, PhD, DABT Director of Research and Development, Nanotechnology Characterization Lab (NCL), Frederick National Laboratory for Cancer Research Ruben Boado, PhD Professor of Medicine, University of California at Los Angeles Disclosures AffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program. Stephan Stern, PhD, DABT Dr. Stern has no relevant financial relationships to disclose.  Ruben Boado, PhD Dr. Boado has no relevant financial relationships to disclose. Mitigation of Relevant Financial Relationships AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer. Accreditation and Credit Designation Physicians This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians. AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physician Assistants AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity. Nurses AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit. Nurse Practitioners AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity. Genetic Counselors AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Genetic Counselors should claim only the credit commensurate with the extent of their participation in the activity. Other Professionals All other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.  Participation Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    50 min
  8. AI in Medicine: Transforming the Landscape of Tissue-Based Diagnostics

    12/31/2025

    AI in Medicine: Transforming the Landscape of Tissue-Based Diagnostics

    Behzad Najafian, MD, Professor, Department of Laboratory Medicine & Pathology, Department of Medicine at the University of Washington, Washington, USA discusses the use of artificial intelligence in identifying and managing lysosomal disorders. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To obtain CME/CE credit, visit https://checkrare.com/learning/p-grids2025-session1-ai-in-medicine-transforming-the-landscape-of-tissue-based-diagnostics/ Learning Objectives Describe recent advances in the applications of AI in lysosomal disorder diagnosis and its clinical relevance Faculty Behzad Najafian, MD  Professor, Department of Laboratory Medicine & Pathology, Department of Medicine, University of Washington Disclosures AffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program. Behzad Najafian, MD Dr. Najafian is on the Advisory Board/Consultant for Sanofi, Amicus, Avrobio, 4DMT, Sangamo, Freeline, AceLink, Relay, CRISPR, ELOXX, SPARK, UNIQURE. He receives grants/research support from Amicus.  Mitigation of Relevant Financial Relationships AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer. Accreditation and Credit Designation Physicians This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians. AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physician Assistants AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity. Nurses AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit. Nurse Practitioners AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity. Genetic Counselors AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Genetic Counselors should claim only the credit commensurate with the extent of their participation in the activity. Other Professionals All other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.  Participation Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    52 min
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News and clinical perspective including CME programs focused on rare diseases. CheckRare focuses on rare and neglected diseases.

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  • Creator
    Peter Ciszewski, CheckRare
  • Years Active
    2020 - 2026
  • Episodes
    188
  • Rating
    Explicit
  • Copyright
    © Copyright Peter Ciszewski, CheckRare
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    Rare Disease Discussions