1st Meeting of the Multidisciplinary Unit of Skeletal Dysplasias (UMED)

More than 130 people from hospitals all over Spain

attended the 1st workshop of the Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid held on the 31st January 2018 in the Hospital La Paz. This unit (UMDE) formed in February 2015 has attended more than 250 skeletal dysplasia patients and performed more than 900 genetic studies using Next generation sequencing, achieving a detection rate of 51%.

The UMDE consists of specialists from Genetics, Fetal medicine, Neonatology, Endocrinology, Radiology, Traumatology and Pathology. Their aim is to improve, through a multidisciplinary approach, the diagnosis and treatment of these rare disorders.

Specialists from different specialities (genetics, paediatrics, radiology, endocrinology, traumatology, orthopaedics, rheumatology, and obstetrics) and from several associations and foundations attended the workshop. The morning sessions included a series of introductory talks in genetics, fetal medicine, radiology, orthopedics and traumatology, endocrinology and pathology in the diagnosis of patients with skeletal dysplasias. In the afternoon, some of the attendees presented diagnosed and undiagnosed clinical cases, which were subsequently open to discussion amongst the attendees. 

We would like to Thank you to Dr. Karen Heath, molecular geneticist from the Institute of Medical & Molecular Genetics (INGEMM) and the Skeletal dysplasia Multidisciplinary unit (UMED), Hospital Universitario La Paz, Madrid, Spain, who co-organized this conference with Dr. Fernando Santos and kindly sent these notes for this news. Dr. Karen has been a close collaborator of the FUndación ALPE for several years and answers many clinical cases that get to us. Her group undertakes both research and diagnostics in the genetics and molecular biology of skeletal dysplasias and short stature.