AS Europe

AS Europe


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 invesigate 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.

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.


Alström Syndrome UK has a wealth of information and knowledge relating to Alström Syndrome.
Coordinating specialist multidisciplinary clinics and clinical trials from Birmingham, Queen Elizabeth Hospital and Birmingham Children’s Hospital. Also, providing the only medical handbook and database of patients in the UK.

Clinical Lead: Dr Tarek Hiwot, University of Birmingham, Edgbaston, Birmingham, B15 2TT, United Kingdom
Telephone: +44 (0)121 371 6982
Email: /


Professor Helene Dollfus
Institut de Génétique Médicale d’Alsace (IGMA) Centre de référence pour les affections rares en génétique ophtalmologique (CARGO) Service de  Génétique – Hôpitaux Universitaires de Strasbourg Laboratoire de génétique Médicale INSERM U1112 Faculté de Médecine
11 Rue Humann, F – 67000, Strasbourg
Tél: +33 (0)3 88128120
Email: /


Alstrom Italy has developed activities for families and professionals and disseminates research and clinical findings. The website can be viewed here

Dr Pietro Maffei
Laboratorio Endocrino Metabolico – Clinica Medica 3,
Dipartimento di Medicina,
Azienda Ospedaliera di Padova,
Via Giustiniani 2,
35128 Padova,

Prof Diana Valverde, Dept. Bioquímica, Genética e Inmunología, Facultad de Biología, Campus Lagoas Marcosende, 36310 Vigo


Professor Claes Moller MD, PhD, Dept Audiology, Orebro University Hospital, 70185 Orebro, Sweden
Telephone: +46 19703738099

Doç. Dr. Selma DÜZENLİ, Abant İzzet Baysal Üniversitesi, Tıp Fakültesi, Tıbbi Genetik AD, 14280- BOLU-TR
Tel: +90 374 2534656/3083

Contact information

For all enquiries please contact Catherine Lewis:

Catherine Lewis
ASEU Administrator
Tel: 07970 071675

ASEU registered as a charity on the 5th February 2017

Charity no: 1160362
Company no: 09113143