Category: Uncategorised

2018 CBS deficiency Research Grants

HCU Network Australia and HCU Network America are currently calling for Expressions of Interest (EOI) for research grants which provide funding for technologies to improve newborn screening and/or funding for potential new therapies to treat homocystinuria caused by cystathionine beta synthase deficiency. EOI deadline for submission 15 January 2018. To apply for a research grant…

A innovative treatment approach for classical homocystinuria

At the recent International Congress of Inborn Errors of Metabolism (ICIEM) Erytech presented pre-clinical data on it’s erymethionase program during the Poster Session.  The Poster Erymethionase, Methioninase Entrapped in Red Blood Cells: an innovative treatment approach for classical homocystinuria is now available to view here.

Developing an Enzyme Therapeutic for Homocystinuria

Matthew Bonem, et al. Poster presentation on developing an Enzyme Therapeutic for Homocystinuria.   A recent Poster shows the effect of administering homocystienase, an alternative enzyme (which is a recombinant version made from another human enzyme), that degrades homocysteine.    

2nd International Patient – Expert Meeting 2017, Rio de Janeiro

HCU Network Australia was delighted to collaborate again with the European Network and Registry for homocystinurias and methylation defects (E-HOD) and it was a pleasure on this occasion to also partner with the Group for Health Technologies Assessment in Clinical Genetics at the Hospital de Clinicas de Porto Alegre (HTA Genetics/HCPA) to host the 2nd…

Seeking a cure for her son’s rare disorder

A Montana State University doctoral student seeking a cure for her son’s rare genetic disorder has won a fellowship that will let her quit the predawn paper route she took to make ends meet and concentrate on her research.  Read more here.

Testing erymethionase in CBS-deficient mice

Erytech Pharma, a French clinical-stage biopharmaceutical company developing innovative therapies for rare forms of cancer and orphan diseases, has entered into a research collaboration with Fox Chase Cancer Centre (FCCC) to advance the pre-clinical development of the company’s erymethionase program for homocystinuria. The aim of the collaboration is to demonstrate the potential of erymethionase to…


On 25th February, Team HCU embarked on an unforgettable 4 day and 3 night trek along what has been described as ‘the finest walk in the world’ from Lake Te Anau towards Milford Sound. Despite the threat of relentless sandflies and the often unforgiving terrain, Team HCU completed the 4 day, 33.5 mile trek through…

ACNC Tick of Charity Registration

HCU Network Australia is proud to display the ACNC Tick of Charity Registration. When displayed, the ACNC Tick of Charity Registration provides reassurance that the charity is both transparent and accountable. By displaying the tick we hope to ensure public trust and confidence in HCU Network. To read more about the ACNC tick, please click…

International Rare Disease Day 2017

The 28 February 2017 marks the tenth international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities based on the theme of research.  To find out more visit

Natural History Study of CBS Deficiency

Orphan Technologies Ltd is looking for male and female patients, between the ages 5 to 65 years, who have been clinically diagnosed with homocystinuria. Study Details: Purpose: To characterise the clinical course of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) in paediatric and adult patients under current clinical management practices. Name: A Multicenter, Observational, Prospective, Natural History…