Date & Time: 15 December 2022, 4 pm CET

Featuring Dr Carolina Medina-Gomez & Dr Leanne Ward,

Chaired by Dr Maria-Bernadette Madel

Format:

• 5 min welcome & introductions
• 20 min presentation by Dr Medina-Gomez
• 20 min presentation by Dr Leanne Ward
• 15 min Q&A
• 15 min Coffee Shop for interactive discussions

Learning Goals:

1. To highlight recent developments in the genetics of primary bone fragility, and in the monitoring of children at risk for secondary osteoporosis.
2. To underscore the potential polygenic contribution to pediatric fracture risk and the role of genome-wide association studies to identify this burden.
3. To summarize results of recent clinical trials in the treatment of primary and secondary osteoporosis.
4. To discuss unmet needs that drive future directions in clinical care, research and advocacy for children with osteoporosis.

Accreditation:

This webinar has been accredited by the European Accreditation Council for Continuing Medical Education (EACCME®) with 1 European CME credit (ECMEC®s).  Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity.

Costs: Live webinar is free for ECTS members and non-members, but a registration is required. Recordings are accessible to ECTS members only.

Faculty

Dr Carolina Medina-Gomez

Dr Carolina Medina Gomez is a senior researcher at the Erasmus MC University Medical Center Rotterdam, the Netherlands and an active member of the ECTS academy. She obtained her PhD in 2016, entitled “Disentangling the Heterogeneity of Bone Accrual”, in which the genetics of pediatric bone was the leading topic. Her findings have, for example, contributed to underscore the importance of molecules such as WNT16 in bone biology. Her work is at the forefront of cutting-edge methods in genomics (including not only genetic data but also transcriptomics), leading projects within the GEFOS/GENOMOS consortium. Since 2016, she he extended her research to microbiome research having a lead role in the MiBioGen consortium trying to bring together genetic, genomic and gut microbiome data.

Dr Leanne Ward

Dr. Leanne Ward is a Professor of Pediatrics in the Faculty of Medicine at the University of Ottawa where she holds a Tier 1 Research Chair in Pediatric Bone Disorders. Dr. Ward is also cross-appointed to the Department of Surgery given strong clinical and research ties to the Division of Orthopedics. She is the Scientific Director of The Ottawa Pediatric Bone Health Research Group, The Medical Director of the Pediatric Genetic and Metabolic Bone Disease Clinic at the Children’s Hospital of Eastern Ontario (CHEO), and a pediatric endocrinologist in the CHEO Division of Endocrinology. In 2014, she founded The Canadian Consortium for Children’s Bone Health, a national, multi-disciplinary network of clinicians and scientists that foster health professional education and research in childhood-onset bone disorders (bonescanada.org). She is also a Steering Committee Member of the International Conference on Children’s Bone Health (ICCBH).

Dr. Ward’s research program is dedicated to the diagnosis and treatment of childhood-onset bone disorders including genetic forms of rickets, hypophosphatasia, osteoporosis due to chronic illnesses, and skeletal dysplasias (such as osteogenesis imperfecta and achondroplasia). The Ward lab has a particular focus on therapeutic trials in childhood-onset bone disorders, with emphasis on orthopedic outcomes quantified through central skeletal imaging, and the study of novel drugs to mitigate the functional consequences of rare bone diseases. The Ward lab’s signature is local-to-global collaborative engagement with clinicians, researchers, and the patient community in key areas that span orthopedics, endocrinology, dentistry, audiology, radiology, genetics, allied health, biomedical statistics and clinical trial operations.

Dr. Ward has held sustained funding from the Canadian Institutes of Health Research as PI or co-PI since 2003, has published over 300 book chapters, abstracts and manuscripts, and has delivered over 120 international invited speaking engagements. She works closely with patient advocacy groups to promote patient education and access to rare disease care, including the Canadian Organization for Rare Disorders, The Canadian Osteogenesis Imperfecta Society, The Canadian XLH Network, Parent Project Muscular Dystrophy, and Defeat Duchenne Canada. In 2019, Dr. Ward was named a Fellow of the American Society of Bone and Mineral Research, an award in recognition of significant contributions to bone and mineral science.

Date & Time: 17 November 2022, 4 pm CET

Featuring Dr Brendan Lee and moderated by Dr Jessica Pepe

Organised by the ECTS and ICCBH

Format:

• 5 min welcome & introductions
• 35 min presentation
• 20 min Q&A

Learning Goals:

• Understand the impact of metabolic requirements of skeletal homeostasis. 
• Learn how genetic disorders of the skeleton identify key metabolic pathways required for skeletal homeostasis. 
• Understand how underling metabolic dysregulation may impact treatment of skeletal dysplasias. 

Costs: Live webinar is free for ECTS members and non-members, but a registration is required. Recordings are accessible to ECTS members only.

Faculty

Dr Brendan Lee

Dr. Brendan Lee is the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics, Professor and Chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM).  Dr. Lee co-directs the joint MD Anderson Cancer Center, University of Texas Health, and BCM Rolanette and Berdon Lawrence Bone Disease Program of Texas, and the BCM Center for Skeletal Medicine and Biology.  He is Founder and Director of the Skeletal Dysplasia Clinic at Texas Children’s Hospital, and of the Medical Student Research Track at Baylor.  As a pediatrician and geneticist, Dr. Lee studies structural birth defects and inborn errors of metabolism. Dr. Lee identified the first genetic causes of human skeletal dysplasias that affect the growth and strength of the skeleton.  He has discovered new causes of brittle bone disease.  In so doing, he identified key regulators of bone mass and quality which have led to new approaches for diagnosing and treating these disorders.  In the area of metabolic disease, he developed new treatments for maple syrup urine disease and urea cycle disorders that are identified at birth by comprehensive newborn screening.  He has published over 300 peer reviewed papers and over 80 invited reviews, chapters, and books.  His work has garnered over $68M in continuous NIH funding over his 25 years as an independent investigator.  He currently leads the NIH BCM Undiagnosed Diseases Network Clinical Site and NIH Brittle Bone Disorders Consortium. He holds multiple patents in drug discovery and gene therapy and several licensed technologies are in clinical trial.

Dr. Lee has received local, national, and international recognition including election to the National Academy of Medicine, Fellow of the American Association for the Advancement of Science (AAAS), the Texas Academy of Medicine, Engineering, Science, and Technology (TAMEST), the Association of American Physicians (AAP), the American Society for Clinical Investigation (ASCI), and the Society of Pediatric Research (SPR).  He has also been awarded the American Society of Human Genetic Curt Stern Award for Outstanding Scientific Achievement, the TAMEST Peter and Edith O’Donnell Award in Medicine, the Society for Pediatrics Research (SPR) E. Meade Johnson Award for Pediatrics Research, the Michael E. DeBakey Excellence in Research Award, the American Philosophical Society’s (APS) Judson Darland Prize for Patient-Oriented Clinical Investigation, Best Doctors in America, and Foreign Member, National Academy of Medical and Surgical Sciences in Napoli, Italy.  He has served on multiple nonprofit boards and advisory panels including the Advisory Committee to the Director (ACD) of the NIH.

He has been the primary research mentor of 48 MD, MD/PhD, and PhD postdoctoral fellows, 25 PhD pre-doctoral, 9 MD pre-doctoral, and 17 undergraduate trainees.  He leads a medical genetics NIH training grant and program currently in its 41st-45th years of funding.  He also led the establishment of the masters in genetic counseling program at BCM.

Dr. Lee was previously an Investigator of the Howard Hughes Medical Institute prior to becoming Chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine in 2014.  The Department is the leading genetics program in the world integrating basic/translational/clinical research, prenatal/pediatric/adult clinical service, and molecular pathology activities.  It is composed of over 150 primary faculty members encompassing research, clinical, laboratory diagnostic, and genetic counseling missions. It ranks #1 in total NIH funding ($110M in FY20) and number of NIH grants for ten straight years among genetics departments at US medical schools.  He led the negotiation and establishment of Baylor Genetics laboratories a joint venture between Baylor College of Medicine and Miraca Holdings valued at $330 million.  He has also led philanthropic efforts raising over $16 million in support of the Center for Skeletal Medicine activities.  His global activities include the establishment of the joint Baylor College of Medicine-Chinese University of Hong Kong Center for Medical Genetics in Hong Kong.