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Having formerly been a member of the GIG staff, Anna worked on behalf of the Genetic Interest Group as their regional representative liaising with GIG and patient Support Groups. Anna led on Genes Day in October 2003 a successful collaborative project between GIG the CGU and Thinktank Birmingham’s prestigious science centre.
Anna has also developed policies and strategies for the involvement of patients and the public in the work of the Clinical Genetics Department and the NHS National Genetics Education and Development Centre. She was a member of the Working Group for the recent DISCERN research project which developed a tool for creating and assessing patient information in a variety of formats around genetic testing for a number of genetic conditions and remains a member of a further research project looking at the information needs of patients with a genetic predisposition to cancer.

Additionally Anna is a member of the Advisory Group at Birmingham University for the research project ‘Family Talk’ which aims to understand how information regarding genetics and hereditary conditions is talked about within families particularly to children.

Originally trained as a nurse Anna has also worked in the pharmaceutical industry and has previous experience in the voluntary sector. Prior to commencing as the Project Officer for the Family Route Map Project Anna worked in the West Midlands Regional Clinical Genetics Unit (CGU) and was seconded to The NHS National Genetics Education and Development Centre.

The Family Route Map project commenced in April 2006 working with Support Groups representing the following six genetic conditions together with patients their families and carers who have experience of one of these conditions;
Developing Family Route Maps as a Tool to help families with genetic conditions to access appropriate information and services in the UK was the primary objective for this groundbreaking and unique project.

Dr Kevin V. Lemley is Professor of Clinical Pediatrics at the University of Southern California Keck School of Medicine and Attending Nephrologist at Childrens Hospital Los Angeles.

His main research and clinical interests are in the progression of glomerular diseases genetic diseases of the kidney and the role of the podocyte (visceral epithelial cell of the lomerulus) in renal disease.

He became involved in Nail-Patella Syndrome as the result of a phone call from a concerned parent and has been active in NPSW for the last six years.

Despite not having any NPS patients at this time he remains interested in NPS because – in the kidney – it seems to be a disease of the podocyte and because the people he has met through NPSW are just so darned nice.

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Iain McIntosh has been studying the genetics of NPS since 1994. His curiosity was sparked by wondering what the connection might be between development of the knees
nails and kidneys.

His laboratory at Johns Hopkins University (Baltimore USA) worked to identify the precise location of the NPS gene (now known as LMX1B) on chromosome 9 and subsequently described over 100 of the known NPS mutations. By studying where LMX1B is working during development his group guessed that it may play some role in the nervous system. They went on to demonstrate that many patients with NPS have reduced sensation to pain and temperature in their fingers & toes.

He has also worked on the possible link between NPS and symptoms of Attention Deficit Disorder (ADHD).

Prior to working at Johns Hopkins, Dr. McIntosh studied at the University of Edinburgh. Since 2006 he has been Professor of Medical Genetics at the American University of the Caribbean in St. Maarten.

Steven D. Zaretsky is a graduate of Lehigh University in Pennsylvania and obtained his medical degree at the University of Health Sciences / Chicago Medical School.
He is certified by the American Board of Orthopedic Surgeryand is also certified by the American Board of Independent Medical Examiners.

During his residency at the Mount Sinai Hospital in New York City, he was trained in General Orthopedic surgery, including Trauma at the City Hospital Center at Elmhurst, New York. Following his residency, he completed a fellowship in Sports Medicine and Arthroscopic Surgery under the auspices of the OASIS Group in San Diego, California. His fellowship included the evaluation and treatment of professional, collegiant and high school athletes including the San Diego Charger football team, the San Diego Gulls hockey team and the San Diego soccer team.

Dr. Zaretsky is an expert in Arthoscopic surgical procedures involving the knee and shoulder and he specializes in the evaluation and treatment of meniscus tears, chondral lesions, patellofemoral derangement, ligament injuries and arthritis of the knee. Dr. Zaretsky's expertise involving the shoulder include the evaluation and treatment of rotator cuff disorders, impingement syndrome, instability and arthritis. Dr. Zaretsky is a solo practitioner of Orthopedic Surgery & Sports Medicine and is committed to improving the quality of life of his patients using the safest and most conservative approach possible. He is dedicated to educating his patients so they can feel confident with their treatment plan.