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Meet the Team

We are made up of passionate people from around the world – people living with acrodysostosis, parents, family members, friends and scientists and doctors  who are interested in researching the disease to learn more about it.

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Get in touch with us at info@acrodysostosis.com

Board of Trustees

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Nina Knight - Chair

Nina Knight is a mum, entrepreneur and advocate for people living with rare disease. Nina got involved in the rare disease world more than a decade ago, when her daughter was born with Acrodysostosis. Four years ago, she set up Acrodysostosis Support & Research. This charity is dedicated to improving the lives of people affected by the condition through community support and promotion of research. Nina is also an ePAG@ERN-ITHACA (patient advisory board member). ERN-ITHACA (European reference network for rare malformation syndromes and rare intellectual and neurodevelopmental disorders). In addition to this role Nina works for a rare disease company; ‘Aspire Biosciences' as their Development and Operations Officer she supports the company on building internal workstreams as well as stakeholder engagement. Nina's previous professional background includes business development, IT recruitment, model management, and ownership of a furniture company. Contact: info@acrodysostosis.com.

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Jan Bingham - Trustee

Jan is a partner in a London law firm, specialising in commercial, IT, IP and data protection. She is also a CEDR qualified mediator. Jan undertakes a variety of pro bono work, mainly helping to mediate disputes. She enjoys being able to provide legal and practical guidance in situations where it wouldn't otherwise be accessible. Jan has been a trustee of the charity since (. ) and loves supporting the many initiatives that it is involved in.

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Sarah Denney - Treasurer

With nearly 20 years of experience as a team leader at Marie Curie, Sarah has honed skills in creative design and leadership. Her career began at various small design agencies, where she developed a strong foundation in the industry. She then served as a Production Manager at Christian Aid and as the Art Director for Friends of the Earth, where she further refined my expertise. Outside of her professional life, Sarah is dedicated to community service. She proudly serves as the president of the Peckham Women’s Institute and is honoured to be a trustee of Acrodysostosis Support and Research.

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Clara Tang - Trustee

With a PhD in Neuroscience from the University of Cambridge, Clara has built a diverse career spanning research, alliance strategy, and nonprofit leadership. Clara is currently the Director of Research at the Kabuki Syndrome Foundation, where she is leading the development and execution of the Kabuki syndrome research strategy. She is also the Chief Operations Officer at the public-benefit corporation, Fortuity Pharma, which is dedicated to developing effective and affordable therapies for the rare disease community by repurposing existing drugs and nutraceuticals. She drives the company’s strategic initiatives, oversees operations and identifies new partnerships and growth opportunities. Her previous roles include leading alliance management at Healx, a biotech using AI for rare diseases drug discovery, and consulting for global life sciences leaders.

Medical Team

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Prof Agnes Linglart

Prof Linglart is a Paediatric Endocrinologist and Professor of Paediatrics. She is the Head of the French National Center of Reference for rare disorders of calcium and phosphorus metabolism and coordinates the network of physicians and molecular biologists working on these disorders. Her clinical interests are in Paediatric Endocrinology and comprise Growth, Puberty, Adrenals, Pituitary and Bone diseases. Her research focuses on rare disorders of the mineral metabolism.

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Dr Ashley Shoemaker

Dr. Shoemaker's research focuses on the pathophysiology and treatment of genetic obesity syndromes with a particular focus on the disorder pseudohypopararthyroidism (PHP). Dr. Shoemaker has found that children with PHP have reduced energy expenditure, leading to early weight gain and glucose intolerance. She is continuing her work with a clinical trial of theophylline as a treatment for PHP. Other current studies include a registry for children with a history of obesity onset before six years old and a drug trial for patients with obesity due to hypothalamic brain tumors.

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Dr Giovanna Mantovani

Dr Mantovani obtained her M.D. at the University of Milan in 1998. She then achieved the Specialty in Endocrinology and Metabolism in 2003 and a PhD in Molecular Medicine in 2007 (University of Milan). She is now an Associate Professor of Endocrinology and Head of the "Referral Center for the Study and Care of Pituitary Tumors" at Fondazione IRCCS Ca’ Granda Policlinico in Milan. Since 2000, she has made important contributions to the characterization of Gsa expression and imprinting in human endocrine tissues. She is a member of the Euro-PHP consortium for (epi)genetic diagnosis of Pseudohypoparathyroidism.

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Dr Neetu Krishnan

Dr. Neetu Krishnan received her fellowship training in pediatric endocrinology at Connecticut Children’s. During fellowship, she did research in pseudohypoparathyroidism (PHP) under the mentorship of Dr. Emily Germain-Lee. One of her research projects highlighted that patients with PHP1A are at increased risk of developing Chiari 1 malformations. She continues to work at CT Children’s and is Associate Director of the Albright Center/Center for Rare Bone Disorders.

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Dr Guiomar Perez de Nanclares

Dr Perez De Nanclares Leal is the principal investigator of the Imprinting Disorders group at BioAraba Institute of Health, OSI Araba, Vitoria-Gasteiz, Spain. She is recognized as an international expert in molecular aspects of PHP and PHP-related disorders, including acrodysostosis. Her research focuses on imprinting disorders and their genetic and epigenetic characterization. She has published over 100 articles, including molecular characterisation of imprinted disorders and their differential diagnoses. Read more about Guiomar on her professional profile.

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Dr Alessia Usardi

Dr Usardi is an Italian scientist who obtained her PhD at King’s College London in Neuroscience in 2010 and moved to France to continue fundamental research in Neurodevelopment. She later decided to move towards the field of rare disorders and join Prof Linglart’s team in the Bicêtre hospital as a project manager. Along with Prof Linglart, she has implemented and runs local projects like the Platform of Expertise for Rare Disorders. She has also participated in European projects, such as the first international consensus statement for diagnosis and management of pseudohypoparathyroidism and related disorders.

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Dr Moira Cheung

Having trained as a paediatric endocrinologist, Dr Cheung spent two years in Montreal, Canada undertaking clinical research and managing children with rare metabolic bone diseases. Her PhD at Imperial College, London examined oestrogen and thyroid hormone actions on the skeleton in animal models. Dr Cheung is the clinical lead for paediatric metabolic bone disease at Evelina Children's Hospital, Guys and St Thomas' Trust. She provides specialist patient care and access to clinical trials in rare skeletal disorders.

Acrodysostosis Ambassadors (Families)

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Nina Knight and Phil Woods

Nina and Phil’s daughter Lily was diagnosed with acrodysostosis type 2 when Lily was two years old. After learning that there was very little information about the rare disease, Nina and Phil took to the internet to find others parents and people living with acrodysostosis, and discover the Acrodysostosis Support Facebook group. From there, they became strong advocates for research into the disease, fostering connections with medical experts and geneticists. They travelled to Paris for a medical conference on rare genetic diseases, where they asserted the needs of people living with acrodysostosis through research into the disease. When they were assured that more patient information would lead to better research and medical trials in the future, Nina made it her mission to reach as many people living with acrodysostosis and their families to collect this information; and Acrodysostosis Support and Research was born!

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Alex and Kimberley Stanley

Alex and Kim are parents of Francesca may (9) who was diagnosed with acrodysostosis type 2 at 2 years old. Kim is Francesca's full time carer, with being one of the complex children on average Francesca has around 5-8 hospital appointments month sometimes more! Between them they have worked tirelessly with charities such as starlight and there local hospital and play therapy team to raise monies and more awareness into acrodysostosis and recently Francesca became the first patient ( known) to give a skin cell biopsy in order to study acrodysostosis and understand more about the gene. Between all this dad also volunteers in his spare time at the Nottinghamshire blood bikes, helping the NHS deliver vital blood, and samples across the UK.

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Karen Dolman

Proud mother of a very strong and determined two year old, Henry, who has Acrodysostosis Type 1. Since he was born, Karen has focused on caring for Henry and establishing an outstanding medical team to diagnosis, treat, and support his significant and complex medical and developmental needs. Karen and her family moved to Boston, MA to be near Boston Children’s Hospital, a top pediatric hospital that specializes in caring for patients with rare diseases and complex medical issues. Her family also travels to Nemours/Alfred I. DuPont Hospital for Children in Wilmington, DE, where world-renowned skeletal dysplasia experts provide valuable guidance on Henry’s overall care. Prior to having children, Karen spent 10 years working in the financial industry for J.P. Morgan Asset Management, CRT Capital Group, UBS Global Asset Management and Banc of America Securities, where she specialized in portfolio analytics, investment research and system implementations. Karen graduated from the University of Wisconsin – Madison in 2006 with Bachelor of Science degrees in English and Psychology and completed postgraduate coursework in accounting and finance. Karen is passionate about advocating for children with rare diseases and special needs, promoting genetic testing and research and implementing changes in clinics and hospitals to improve the medical experience for patients and families. Karen is grateful to be a part of the Acrodysostosis community and is excited about the opportunity to participate in research and to raise awareness and support for this rare condition.

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Kym Gleeson

Prior to starting her Rare Disease and Disability Advocacy journey when daughter Frankie was diagnosed with Acrodysostosis Type 2 in 2015, Kym had a career in Communications, Media, Advertising, Sales and Marketing that spanned almost 25 years. Kym is devoted mum of daughters Frankie and little sister Georgia. Currently working Full Time in the NFP sector in Corporate Giving for a major Australia Child Health Charity. And volunteers supporting mothers via Kindred a peer mentoring and support organisation for parents with children who have a disability and or neurodiverse diagnosis. Kym is Co Founder of Facebook group Acrodysostosis Support Group with husband Michael. She is advisor to Acrodysostosis Support And Research board and is also the Founder of The Frankie Foundation, a small Australian NFP that helps support under funded children with disabilities continue therapy when their NDIS funding are not sufficient to meet their needs via small grants.

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Jordan

Jordan is a young woman based in the UK, living with acrodysostosis type 1 with related pseudohypoparathyroidism. She was diagnosed in November 2017 after lots of genetic testing, as she was originally thought to have albright's hereditary osteodystrophy. Jordan is a rare disease advocate and thanks in part to her own unique experience, she aims to raise awareness and help others who are going through anything similar. Jordan uses her social media savvy to run the Acrodysostosis Support and Research Instagram page.

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Elin Morgan

Elin Morgan is a writer and communications consultant from East London. Following an 18 year career in PR, where she specialised in arts and culture, she returned to study and recently completed an MA in Creative Writing (Non-fiction) at the University of East Anglia. Elin’s very close to her younger sister Anna, who has the rare genetic condition Acrodysostosis. Elin volunteers with Acrodysostosis Support & Research and Age UK Waltham Forest and sits on the board of two arts companies.

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