Managing
Achondroplasia
into Adulthood

Svein Fredwall

Chair
Senior Consultant
Sunnaas Rehabilitation Hospital, Nesodden, Norway

Dr Svein Fredwall is a Senior Consultant and Medical Advisor at TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Norway. He is specialised in General Medicine and has worked for more than 15 years as a general practitioner. Since 2012, he has been working at the National Resource Centre, mainly with rare skeletal dysplasia disorders.

Dr Fredwall has been the principal investigator in The Norwegian Adult Achondroplasia Study, investigating medical complications and physical functioning in adults with achondroplasia. He is also running an adult skeletal dysplasia clinic at Sunnaas Rehabilitation Hospital.

Dr Fredwall has presented a number of abstracts at international conferences, and has been an invited member in two international working groups for developing best practice guidelines for management and care in achondroplasia. He is also a member of several advisory boards.

Kate Khair

Director of Research, Haemnet London, United Kingdom
Clinical Academic Careers Fellow / Visiting Professor of Health and Social Care
Centre for Outcomes Research and Experience in Children’s Health Illness and Disability (ORCHID) Great Ormond Street Hospital for Children NHS Trust / London South Bank University

Since becoming a state registered nurse in 1981, Dr Khair has gained a number of other professional qualifications including state registration in paediatric nursing, a master’s degree in anthropology, a City and Guilds master’s degree in higher levels of practice, several modules in advanced nursing and a PhD in health. Kate is an advocate of the nurse’s role in the multidisciplinary team, is the chair of the nurses committee of the WFH, a founding Trustee of Haemnet, a haemophilia education and research charity, and the Editor in Chief of the Journal of Haemophilia Practice.

Dr Khair worked in the haemophilia centre at Great Ormond Street Hospital for Children from 1991 as a consultant nurse. She is Director of Research at Haemnet and continues to work in ORCHID, continuing her work into outcomes research in long term conditions in childhood as well as supporting PhD students in health outcomes research.

Debra Pollard

Advanced Nurse Practitioner
Royal Free Hospital, London, United Kingdom

Debra Pollard is the Lead Nurse at the Katharine Dormandy Hemophilia, Anticoagulation & Thrombosis Centre at the Royal Free Hospital, London. In 2014, she gained a Masters in Advanced Nursing Practice, from King’s College London. She has extensive experience in the comprehensive care of adults and children with haemophilia and inherited bleeding disorders and their families. Her main academic interests lie in qualitative research relating to the quality of life and the lived experience of people with bleeding disorders.

Ms Pollard has served as a Trustee of the UK Hemophilia Society from 2005-2012 and continues to participate in their education events and as a member of their Clinical Advisory Board. She is also a Member of the Medical & Scientific Advisory Group of the European Haemophilia Consortium. She is currently Director of Education at Haemnet, a Charity supporting education and research for allied health care professionals treating patients with bleeding disorders and is co-lead for the Comprehensive Care of Bleeding Disorders Course.

Inês Alves

Inês Alves is a veterinary doctor with a post-graduate qualification in surgery. She put a PhD in veterinary sciences on hold in 2012 to care for her second child, who was born with achondroplasia.

Inês created the blog ‘Beyond Achondroplasia’ in 2013. In 2015, she founded ANDO Portugal, the Skeletal Dysplasia National Association, and has been President of the board since then.

She graduated from EUPATI patient expert training in 2016 and is Vice-President of EUPATI Portugal. She became a patient representative (ePAG) and has been a member of the ERN-BOND Steering Committee since 2017. In addition, Inês is part of the EURORDIS E-rare and Rare 2030 expert panel and a patient expert for EMA and IMI.

Inês is a member of the management committee and communication co-leader of Gemstone COST action, with a focus on genomics of musculoskeletal traits. Her input has been sought by Horizon 2020, the European Joint Programme on Rare Diseases, and for new centre applicants for the European Reference Networks since 2019. She is also the founder and first chair of the European Rare Bone Forum, a patient-led initiative for discussing rare bone conditions. In June 2021, Inês was nominated by the European Commission for the Committee for Orphan Medicinal Products (COMP) at the European Medicine Agency.

Inês is a mother of three children, lives in Évora, an UNESCO city in south Portugal, and is working towards a PhD in human motricity.

Michael Wright

Consultant Clinical Geneticist and Deputy Medical Director at Newcastle Hospitals
Newcastle Hospitals, United Kingdom

Dr Michael Wright is a consultant in clinical genetics and Deputy Medical Director at Newcastle Hospitals. He is also an associate clinical lecturer at Newcastle University’s Faculty of Medical Sciences and a member of the Newcastle University Centre for Rare Disease.

Michael has extensive experience within the NHS as a clinician with expertise in genetics and molecular medicine, and as a medical leader working within and across local, regional and national NHS structures. He works with a multidisciplinary team to provide services for patients of all ages with skeletal dysplasias across the North East of England. He is also the president of the Restricted Growth Association.

His research interests are in the diagnosis and management of rare bone diseases. He was one of the founders of the European Skeletal Dysplasia Network, an EU funded project which brought together clinical and radiographic expertise to improve diagnosis for children and adults with skeletal dysplasias.

He has an interest in drug repurposing and is Chief Investigator of the MCDS-Therapy project, a clinical trial of the use of carbamazepine in children with Schmid Metaphyseal Dysplasia.

Michael is chair of Diagnostics North East, a collaborative network of organisations that aims to improve patient care through supporting innovators with the development, evaluation and potential adoption of their most promising new diagnostics.