Listen on the go
Downloads

View and download resources from this activity to support your learning and share with colleagues. Select a language to continue.

Download Practice Aid
Download Slides
CORRECT!
Next question
Faculty & Disclosures
Prof. Karin Blakemore

Johns Hopkins University School of Medicine, Baltimore, MD, USA

Prof. Karin Blakemore is the director of prenatal genetics and a professor in the Department of Gynecology and Obstetrics and the McKusick/Nathans Institute of Genetic Medicine. She served for many years as director of maternal-foetal medicine (MFM) and of the MFM Fellowship Program at Johns Hopkins. read more

Prof. Blakemore completed her residency in obstetrics and gynaecology at New York University Medical Center, a fellowship in human genetics at Yale University School of Medicine, and a fellowship in MFM at Washington University School of Medicine.

Her areas of clinical and research expertise include prenatal diagnosis of, and screening for, foetal genetic abnormalities and conditions, in utero foetal treatment strategies and in utero haematopoietic stem cell transplantation. In addition, she has expertise in alloimmunization; haematologic and connective tissue disorders in pregnancy; foetal skeletal dysplasias; genetic predisposition to early preeclampsia and haemolysis; elevated liver enzymes and low platelets (HELLP) syndrome; and normal and abnormal labour.

Prof. Karin Blakemore has no interests/relationships or affiliations to disclose in relation to this activity.
Prof. Janet Legare

University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

Prof. Janet Legare is a professor in the Department of Pediatrics, Division of Genetics and Metabolism at the University of Wisconsin. She is head of the Midwest Regional Bone Dysplasia Clinic and serves on the medical advisory board for Little People of America. read more

Prof. Legare’s clinical expertise encompasses diagnosis, management, and ongoing care for children with various types of skeletal dysplasia, as well as other neurological and functional genetic conditions. Her research focuses on paediatric conditions, particularly achondroplasia and skeletal dysplasia, and aims to elucidate the natural history of these conditions, assess treatment options and enhance patient care.

She is a site principal investigator for multiple clinical trials for achondroplasia. Prof. Legare actively engages in various professional societies, including the International Skeletal Dysplasia Society, Society for Pediatric Research and American College of Medical Genetics.

Prof. Janet Legare discloses: Grants/research support and Speaker’s Bureau fees from BioMarin Pharmaceutical Inc. (all relationships terminated).
Prof. Dr. med. Klaus Mohnike

Otto-von-Guericke University Magdeburg, Magdeburg, Germany

Prof. Dr. med. Klaus Mohnike is a paediatric endocrinologist at the Children’s Hospital of Otto-von-Guericke University Magdeburg (OvGU) in Germany. He is coordinator of the Centre of Excellence ‘COllaborative Alliance for Congenital Hyperinsulinism’ (COACH) and represents the OvGU in the European Reference Networks (ERN) Endo-ERN, Metab-ERN and ERN-BOND. read more

Prof. Mohnike’s clinical expertise and research activities are mainly related to bone dysplasia and congenital hyperinsulinism. He specializes in metabolic and endocrine diseases and is a spokesperson for the Central German Competence Network for Rare Diseases (MKSE). Over the last 20 years, he has developed inter-institutional registries for various rare diseases such as bone dysplasia, congenital hyperinsulinism and congenital adrenal hyperplasia to create tools for quality assurance in medicine. Prof. Mohnike has published more than 135 scientific papers in international journals, and book chapters.

Prof. Dr. med. Klaus Mohnike discloses: Advisory board/ panel fees from BioMarin Pharmaceutical Inc., Novo Nordisk and QED Therapeutics. Consultancy fees from BioMarin Pharmaceutical Inc. and Novo Nordisk. Grants/research support from BioMarin Pharmaceutical Inc.
Ms Carly Kutner

Freehold, NJ, USA

Ms Carly Kutner is a marketing professional with two decades of experience. She lives in New Jersey, USA with her husband Evan, two daughters and labradoodle, Cooper. read more

Beyond the world of marketing, Carly is deeply passionate about advocating for dwarfism awareness and fostering inclusion. This journey began 7 years ago when her daughter Mira, who was born with achondroplasia, inspired her to champion this cause. Through her advocacy work and blog, TheJoyofMira.com, Carly aims to spread awareness, support and joy to families navigating similar paths.

When not immersed in her role in marketing or spreading awareness, Carly enjoys cherishing quality time with her family, capturing precious moments through photography and spending time at the beach.

Ms Carly Kutner has no interests/relationships or affiliations to disclose in relation to this activity.
touchENDOCRINOLOGY touchENDOCRINOLOGY
    • FILTER YOUR SEARCH
    Content Type:
    Speciality:
    More Specialities
    Conference:
    More Conferences

    • Bone Disorders

    International Partner

    An Introduction to Bone Disorders

    Osteoporosis medications aim to markedly reduce the occurrence of fractures but can have rare and serious adverse effects. The introduction of new drug classes, including an anti-sclerostin monoclonal antibody and a parathyroid hormone-related peptide analogue, into the treatment landscape, offers new options to patients. The potential for cell-based therapies and drugs that target the elimination of senescent cells in the bone microenvironment are currently being investigated.

    Browse our gallery of video highlights and short articles from the conference hub, providing the latest expert insights from major conferences and peer-reviewed articles from the journal portfolio.

    Our supporting partners do not constitute an endorsement of the content on this page.

    Bone Disorders Content

    Bone Disorders, Paediatric Endocrinology
    Watch Time: 58 mins
    touchMDT
    Navigating diagnosis, monitoring, and early treatment in achondroplasia: Multidisciplinary insights from specialist obstetricians and paediatricians
    CE/CME ACCREDITED Prof. Karin Blakemore, Prof. Janet Legare, Prof. Dr. med. Klaus Mohnike, Ms Carly Kutner Translations available:

    A multidisciplinary team and a patient advocate discuss the importance of diagnosis, monitoring, and early treatment in achondroplasia

    Learning objectives
    Learning Objectives
    • Evaluate the importance of multidisciplinary management and appropriate specialist referrals in supporting individualized clinical outcomes in achondroplasia
    • Recognize the need for early initiation of effective long-term treatment in people living with achondroplasia
    • Formulate strategies to support guideline-based multidisciplinary management of achondroplasia, integrating the latest advances in pharmacologic treatment
    Bone Disorders
    Lisa Sarfaty: Exploring and addressing inequities in rare diseases

    Rare diseases can present numerous challenges for those living with these conditions and the healthcare professionals caring for them. In this interview we discuss some of these with Lisa Sarfaty, VP of Communication and Engagement for NORD (The National Organization for Rare Disorders) and explore ways in which they could be tackled.  Questions Could you […]

    Bone Disorders
    Lisa Sarfaty: Help support Rare Disease Day

    Our society partner, NORD (The National Organization for Rare Disorder) has planned several initiatives to support this year’s Rare Disease Day on 28 February.  These activities are aimed at raising awareness about rare diseases and the challenges faced by people living with these conditions.  In this video, Lisa Sarfaty, NORD’s VP of Communication and Engagement, […]

    Bone Disorders, Paediatric Endocrinology
    Watch Time: 35 mins
    touchIN CONVERSATION
    Paediatric growth patterns and their impact on health: Achondroplasia in focus
    CE/CME ACCREDITED Dr Nadia Merchant, Dr Andrew Dauber Translations available:

    Watch experts in paediatric endocrinology discuss the physiology of normal and abnormal bone growth, and the assessment and treatment of achondroplasia.

    Learning objectives
    Learning Objectives
    • Explain how the mechanisms behind various bone growth control systems contribute to bone health and bone abnormalities
    • Use appropriate growth charts to detect abnormal growth patterns in children
    • Summarize the linear growth patterns, and physical and radiographic findings indicative of achondroplasia, and the impact of emerging treatments
    Bone Disorders
    Andrea R. Genazzani
    Developed by Touch
    Andrea R Genazzani, WCO IOF-ESCEO 2022: Hormone Replacement Therapy for Bone Loss Prevention Post Menopause (Part 2)
    Watch Time: 7 mins

    It was a pleasure to talk with Dr. Andrea R Genazzani (International Society of Gynecological Endocrinology and European Society of Gynecology) to find out when, in whom and for how long hormone replacement therapy should be administered for bone loss prevention post-menopause. ‘Hormone Replacement Therapy in post-menopause for bone loss prevention: when, how and for […]

    Bone Disorders
    Andrea R. Genazzani
    Developed by Touch
    Andrea R. Genazzani, WCO IOF-ESCEO 2022: Hormone Replacement Therapy for Bone Loss Prevention Post Menopause (Part 1)
    Watch Time: 6 mins

    touchENDOCRINOLOGY were delighted to catch up with Dr. Andrea R. Genazzani (International Society of Gynecological Endocrinology and European Society of Gynecology) to discuss the health burden of osteoporosis in post-menopausal women and how HRT could be used as a prevention strategy. ‘Hormone Replacement Therapy in post-menopause for bone loss prevention: when, how and for how […]

    Bone Disorders
    Developed by Touch
    Michael R. McClung, WCO IOF-ESCEO 2022: Therapeutic Updates in Osteoporosis

    We were delighted to talk with Dr Michael R. McClung (Oregon Osteoporosis Center, Portland, OR, USA) around the current unmet needs and standard of care for osteoporosis and the therapeutic targets currently being investigated that could lead to new drug approvals. ‘Can we expect new chemical entities for the management of osteoporosis in the coming […]

    Bone Disorders
    Developed by Touch
    Richard Keen, Rare Disease Day 2022: Rare bone diseases – Diagnosis, management and patient quality of life
    Watch Time: 7 mins

    Dr Richard Keen (Director, Centre for Metabolic Bone Disease, Royal National Orthopaedic Hospital, Stanmore, UK) joins us for Rare Disease Day to discuss the spectrum of rare bone disorders, the challenges of diagnosis, and the impact on patient quality of life. Touch Medical Media is supporting Rare Disease Day (28 February 2022) to shine a […]

    Bone Disorders
    Developed by Touch
    Ethan Crough, Rare Disease Day 2022: Living with achondroplasia – Celebrating diversity and increasing awareness
    Watch Time: 7 mins

    Ethan Crough, a middle school technology education teacher, joins us for Rare Disease Day to celebrate diversity as a man living with achondroplasia. Ethan discusses his experiences of living with achondroplasia and highlights useful resources such as Little People of America, which provide support for people of short stature and their families.  Touch Medical Media […]

    In Partnership with...
    Useful Links:
    About us Society Partners Press Releases Contact Us Permissions Terms & Conditions Privacy Policy Cookie Preferences
    Connect With Us:

    Other websites from Touch Medical Media:

    touchONCOLOGY
    touchOPHTHALMOLOGY
    touchENDOCRINOLOGY
    touchNEUROLOGY
    touchCARDIO
    touchRESPIRATORY
    touchIMMUNOLOGY
    touchINFECTIOUS DISEASES
    touchHAEMATOLOGY
    touchDERMATOLOGY

    Copyright® 2024 Touch Medical Media. Touch Medical Media Group Holdings Limited, a private limited company registered in England and Wales at 3 Stockport Exchange | Stockport | Cheshire | SK1 3GG | UK with registered number 08197142.

    touchENDOCRINOLOGY is for informational purposes and intended for healthcare professionals only. Its content should not be considered medical advice, diagnosis or treatment recommendations.

    Copied to clipboard!
    accredited arrow-down-editablearrow-downarrow_leftarrow-right-bluearrow-right-dark-bluearrow-right-greenarrow-right-greyarrow-right-orangearrow-right-whitearrow-right-bluearrow-up-orangeavatarcalendarchevron-down consultant-pathologist-nurseconsultant-pathologistcrosscrossdownloademailexclaimationfeedbackfiltergraph-arrowinterviewslinkmdt_iconmenumore_dots nurse-consultantpadlock patient-advocate-pathologistpatient-consultantpatientperson pharmacist-nurseplay_buttonplay-colour-tmcplay-colourAsset 1podcastprinter scenerysearch share single-doctor social_facebooksocial_googleplussocial_instagramsocial_linkedin_altsocial_linkedin_altsocial_pinterestlogo-twitter-glyph-32social_youtubeshape-star (1)tick-bluetick-orangetick-red tick-whiteticktimetranscriptup-arrowwebinar Sponsored Department Location NEW TMM Corporate Services Icons-07NEW TMM Corporate Services Icons-08NEW TMM Corporate Services Icons-09NEW TMM Corporate Services Icons-10NEW TMM Corporate Services Icons-11NEW TMM Corporate Services Icons-12Salary £ TMM-Corp-Site-Icons-01TMM-Corp-Site-Icons-02TMM-Corp-Site-Icons-03TMM-Corp-Site-Icons-04TMM-Corp-Site-Icons-05TMM-Corp-Site-Icons-06TMM-Corp-Site-Icons-07TMM-Corp-Site-Icons-08TMM-Corp-Site-Icons-09TMM-Corp-Site-Icons-10TMM-Corp-Site-Icons-11TMM-Corp-Site-Icons-12TMM-Corp-Site-Icons-13TMM-Corp-Site-Icons-14TMM-Corp-Site-Icons-15TMM-Corp-Site-Icons-16TMM-Corp-Site-Icons-17TMM-Corp-Site-Icons-18TMM-Corp-Site-Icons-19TMM-Corp-Site-Icons-20TMM-Corp-Site-Icons-21TMM-Corp-Site-Icons-22TMM-Corp-Site-Icons-23TMM-Corp-Site-Icons-24TMM-Corp-Site-Icons-25TMM-Corp-Site-Icons-26TMM-Corp-Site-Icons-27TMM-Corp-Site-Icons-28TMM-Corp-Site-Icons-29TMM-Corp-Site-Icons-30TMM-Corp-Site-Icons-31TMM-Corp-Site-Icons-32TMM-Corp-Site-Icons-33TMM-Corp-Site-Icons-34TMM-Corp-Site-Icons-35TMM-Corp-Site-Icons-36TMM-Corp-Site-Icons-37TMM-Corp-Site-Icons-38TMM-Corp-Site-Icons-39TMM-Corp-Site-Icons-40TMM-Corp-Site-Icons-41TMM-Corp-Site-Icons-42TMM-Corp-Site-Icons-43TMM-Corp-Site-Icons-44TMM-Corp-Site-Icons-45TMM-Corp-Site-Icons-46TMM-Corp-Site-Icons-47TMM-Corp-Site-Icons-48TMM-Corp-Site-Icons-49TMM-Corp-Site-Icons-50TMM-Corp-Site-Icons-51TMM-Corp-Site-Icons-52TMM-Corp-Site-Icons-53TMM-Corp-Site-Icons-54TMM-Corp-Site-Icons-55TMM-Corp-Site-Icons-56TMM-Corp-Site-Icons-57TMM-Corp-Site-Icons-58TMM-Corp-Site-Icons-59TMM-Corp-Site-Icons-60TMM-Corp-Site-Icons-61TMM-Corp-Site-Icons-62TMM-Corp-Site-Icons-63TMM-Corp-Site-Icons-64TMM-Corp-Site-Icons-65TMM-Corp-Site-Icons-66TMM-Corp-Site-Icons-67TMM-Corp-Site-Icons-68TMM-Corp-Site-Icons-69TMM-Corp-Site-Icons-70TMM-Corp-Site-Icons-71TMM-Corp-Site-Icons-72
    Close Popup