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. Systemic Mastocytosis: Recognition, Diagnosis, and Clinical Management

    MAY 18

    Systemic Mastocytosis: Recognition, Diagnosis, and Clinical Management

    This accredited continuing education program is supported by an educational grant from Blueprint Medicine.  It provides timely and practical education on systemic mastocytosis (SM). To obtain CME credit, visit https://checkrare.com/learning/p-systemic-mastocytosis-recognition-diagnosis-and-clinical-management/ SM is a rare, chronic disorder driven by aberrant mast cell accumulation across multiple organ systems. Although diagnostic criteria are well established, a recent natural history study found that the average time to diagnosis is nearly five years. This prolonged delay—largely due to limited awareness of SM and its early symptoms—often results in unnecessary disease progression and inappropriate treatment. To address this clinical gap, this activity, led by Daniel J. DeAngelo, MD, PhD, Chief, Division of Leukemia at the Dana-Farber Cancer Institute, Harvard Medical School, in Boston, MA, provides an overview of the early signs and symptoms of SM, outlines the appropriate diagnostic criteria and tools, and reinforces the importance of timely referral and testing for these patients to be properly managed.  Led by a clinical expert with experience diagnosing and treating patients with SM, this 45-minute CME program will highlight early signs of SM, outline diagnostic criteria and tools, and reinforce the importance of timely referral/testing.  Target Audience This activity has been designed to meet the educational needs of physicians specializing in hematology, dermatology, gastroenterology, immunology, and family practice. Other members of the care team may also participate. Learning Objectives After participating in the activity, learners should be better able to: Describe the early symptoms of systemic mastocytosis and its clinical relevance. Apply best practices to diagnose systemic mastocytosis more efficiently. Faculty Daniel J. DeAngelo, MD, PhD Chief, Division of Leukemia Dana-Farber Cancer Institute, Harvard Medical School Boston, MA Disclosure Statement According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated. Disclosure of relevant financial relationships are as follows: Faculty Educator/Planner Dr. DeAngelo discloses the following relevant financial relationships with ineligible companies: Consultant: Amgen, Autolos, Blueprint Medicines, Incyte, Jazz, Novartis, Pfizer, and Takeda  Research Support: AbbVie, Glycomimetics, Novartis, and Blueprint Medicines Data Safety Monitoring Board: Daiichi-Sankyo Other Planners for this activity have no relevant financial relationships with any ineligible companies. This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information. Accreditation and Credit Designation In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.  Other HCPs Other members of the care team will receive a certificate of participation. There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days. Privacy For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/ Contact For any questions, please contact: CEServices@academycme.org Copyright © 2026. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

    45 min
  2. Prader-Willi Syndrome: Clinical Features and Early Identification

    APR 24

    Prader-Willi Syndrome: Clinical Features and Early Identification

    Merlin G. Butler, MD, Medical Geneticist and Professor, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, and one of the pioneers in Prader–Willi syndrome research, discusses the clinical features of this very rare disease and the critical importance of early identification.  Prader–Willi syndrome was first reported in 1956, and deletions in chromosome 15 were first identified in the 1980s. Dr. Butler has been working on the genetics of Prader–Willi syndrome since that decade.  Dr. Butler said that Prader–Willi syndrome was the first example of a disorder caused by “genetic imprinting,” in which it matters whether genes are contributed by the mother or the father. In 70% of the cases of this disorder, the father’s contribution is missing from chromosome 15q13, and 25% of cases are the result of both copies of chromosome 15 being from the mother (referred to as “disomy”).  Babies born with this genetic anomaly have severe hypotonia, and they have no interest in sucking or feeding. They often have decreased muscle mass and energy. “These infants look like they have a major problem at birth,” stated Dr. Butler. They need to be tube-fed. Once a genetic cause is suspected, Prader-Willi syndrome is quickly diagnosed; it is a very rare disease that also has very unique features. Pediatricians may see only one of these patients every 10 years. Therefore, according to Dr. Butler, “it is the parents who oftentimes make the diagnosis, through what they have seen on the Internet, prompting genetic testing.”  Despite their problems with feeding in the neonatal period, infants with Prader–Willi syndrome will begin to gain an interest in feeding by around age 2 to 3 years. By age 6 years, they develop hyperphasia. “Once their appetite is turned on,” he said, “it is never off.” Uncontrolled, this results in obesity and life-threatening conditions, such as type 2 diabetes and stomach rupture. Early identification is key, and determining the genetic subtype is extremely important to building a multidisciplinary care team. There are seven different genetic subtypes, which can impact outcomes and management. Typically, the care team will include the medical geneticist and genetic counselors, endocrinologists (to manage the use of growth hormone and diabetes-related treatment), dietitians to manage and monitor caloric intake, mental health experts to address behavioral issues and the risk of self-injury, gastroenterologists, and potentially even sleep medicine professionals. The specialists comprising the care team will change over the patient’s lifespan; occupational therapy and speech therapy may well be required as the patient ages.  The treatment of hyperphagia associated with Prader–Willi syndrome, the number 1 issue, is a particularly active area of research. The idea is to avoid the onset of obesity, which can lead to most of the comorbidities and complications.

    1h 14m
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
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About

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

Information

  • Creator
    Peter Ciszewski, CheckRare
  • Years Active
    2020 - 2026
  • Episodes
    189
  • Rating
    Explicit
  • Copyright
    © Copyright Peter Ciszewski, CheckRare
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    Rare Disease Discussions

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