Monthly Archives: May 2014

Pictures from ECTS Prague 2014

photo 2

GoulashGoulash, dumplings and beer (Karl Kadler and Checco Ramirez)

SYBIL“SYBIL” night out (Gretl, Sylvia, Alfredo, Mattia & Anna)FA CupWatching the FA Cup final on Karl’s phoneSelfieA selfie with “Death”

(Statue of Death from “Don Giovanni,” crouched in front of the theatre as a memorial)

CheccoChecco at the podium in the Congress Hall

workshop

Rare Disease talks at ECTS14 in Prague today

ects2014_Portrait

see here

New perspectives in rare bone disorders: Hypophosphatasia – what you need to know

Chair: Professor Nick Bishop (UK)

Introduction
Professor Nick Bishop (UK)
Characterising ALP – a critical enzyme in bone mineralisation
Professor José Luis Millán (USA)
HPP: a wide-ranging disease with variable presentation
Dr Christine Hofmann (Germany)

Newborn babies in the UK to be tested for rare diseases

Interesting article on the BBC Web site.

The number of conditions for which newborn babies in England are screened is to increase.

All babies born in the UK are already tested for common genetic conditions such as cystic fibrosis.

Now four additional, rarer disorders will also be checked for in the heel-prick blood test.

A year-long pilot study found 20 cases of the diseases in 700,000 babies tested.

Experts said it proved carrying out these tests could make an “enormous difference” to the children concerned and their families.