Alström Syndrome Europe

Bringing together medical professionals, researchers and those directly affected by Alström Syndrome to discover further insights into this ultra-rare condition. Aiding research initiatives, treatments and better management of the condition. By working together in collaboration we can learn more, with the aim of improving the lives of those affected.

Trustees of Alström Syndrome Europe

Dr. Pietro Maffei
Consultant Endocrinologist
Padua, Italy

Dr. Maffei studied at University School of Medicine, Padua, Italy (1989); Specialization in Internal Medicine (1994), PhD in Clinical Methodology (1999) and Specialization in Cardiology (2002), Padua University, Italy.
His major research interests have been in the area of clinical endocrinology and metabolism with particular dedication to pituitary disorders and acromegaly.
Dr Maffei is involved in Alström Syndrome clinic and research; since 2002 he is a full member of Alström Syndrome International (ASI) Medical and Scientific Advisory Board and ASI Board of Directors.
Dr Maffei contributed to the organization and hosting of the 3rd and 5th International Alström Syndrome Conference (Padua, 2003; Padua-Venice, 2008) and is involved in the work and developments of Alström Syndrome Europe.

Dr. Diana Valverde (Vigo, Spain)

Biologist that began in 1991 her career in Human Genetics at Saint Paul Hospital in Barcelona, working in Retinal diseases. After presenting her PhD in Retinosis Pigmentaria (RP), she started to investigate the syndromic forms of RP, Bardet Biedl Syndrome, Alström Syndrome, Usher syndrome. She established at the University of Vigo in 1999 at the Department of Biochemistry, Genetics and Immunology, investigating in rare diseases. She belongs to the Spanish RetNet, a group of laboratories working with retinal diseases, and has focused in the study of the molecular basis of Bardet Biedl and Alström Syndromes. She has published several articles related to the identification of mutations in those syndromes in Spanish populations.

Dr Tarekegn G Hiwot
Consultant in Inherited Metabolic Disorders
AS Clinical Lead, Adults
University Hospitals, Birmingham, UK

Tarek’s and his team focuses on the deep phenotyping of rare inherited metabolic disorders to provide the best available care for each patient based on stratification into disease subclasses with a common biological basis. They utilise metabolomics, exome sequencing, novel biomarkers and international patient registries to understand the heterogeneity of diseases caused by single gene defect. Their main disease research area of interests are; Alström Syndrome Niemann-Pick, Fabry, Gaucher, Mucopolysaccharidosis, and Phenylketonuria.

Bernd Rosenbichler

Founder of Alström Initiative, Germany and Dad to his Son who is affected by Alström.

Kerry Leeson-Beevers

ASUK Chief Executive and Mum to her Son who is affected by Alström.

AS European Clinical Guidelines

AS EU developed clinical guidelines, which were updated in 2020 alongside researchers, patient groups and clinicians throughout Europe.

The new clinical guidelines – published September 2020 can be found by clicking HERE

Working in Collaboration

The following clinicians are working alongside Alström Europe.

England