A team of researchers at The Children's Hospital of Philadelphia (CHOP) and Newcastle University in the UK have ended a 15 year search for the gene that causes Cornelia de Lange Syndrome. The findings, reported in Nature Genetics, identified a gene on chromosome 5.

Members of the CdLS Association of Australasia are elated at these findings for various reasons:
• It will provide accurate diagnosis
• It will provide genetic testing for other family members, particularly siblings
• It will provide accurate information and counselling resources for future pregnancies
• It will enable care providers to understand the diagnosis of CdLS, improve existing therapies, and design new medical therapies
• It will provide a greater understand the role the gene plays in development

Two articles describing the discovery of a gene on chromosome 5 were published in the June 2004 edition of the medical journal, Nature Genetics. Most people without a genetic science background would have difficult understanding the articles. Dr Meredith Wilson, Professional Director and National SAC Representative, has provided a summary which will explain a little of what the research terms have shown and how they did this.

Dr Wilson's full report can be found on the MEDICAL PAGE
(June 2004)

The CdLS Management Committee is pleased to announce that Dr Meredith Wilson, Clinical Genetics Westmead Children's Hospital, has agreed to become our professional director. This position includes her on the International CdLS Scientific Advisory Council (SAC) where she will represent Australian families' medical needs.

Dr Wilson has been actively involved in our support group since 1993, speaking at all of our conferences, and making herself available for medical guidance for our families.

A very warm welcome and thank you from all our families.

GREEN RIBBON FOR AWARENESS!!
International CdLS Awareness Day is held on the 2nd Saturday of May each year, usually marked by a function organised by State Co-ordinators. However, this year you can raise awareness by simply wearing a green ribbon.

Why green?

There is an Italian saying - "verde per speranza" which means "green for hope" and as the next International Conference is to be held in Italy, it is appropriate that we adopt an Italian motto. This motto seems appropriate in any language for any cause, but more so for CdLS. It is every parent's hope that the cause of CdLS is found for future generations. It is every parent's hope that their loved one with CdLS is healthy and able to participate in as many of life's experiences as possible. It is every parent's hope that their child with CdLS live a happy, meaningful life within the community.

Therefore, get behind this project and wear a green ribbon from Saturday, 8 May to Friday, 14 May to raise awareness in the community. (May 2004)

Jenny Rollo has been named in this year's Queen's Birthday Honours List. Jenny was awarded the Medal of the Order of Australia for "service to the community, specifically for the Cornelia de Lange Syndrome Association of Australia". The Governor of NSW will present Jenny with her Medal at a ceremony at Government House later this year.

Jenny is a very commendable recipient for this Award as we all know how tirelessly she works for CdLS - sometimes juggling many roles. The Australian Association is the organisation it is today largely because of Jenny's dedication, commitment and enthusiasm.

Congratulations Jenny! - this is a very much deserved award. (June 2002)

On Sunday, 18 May, 8 children with CdLS, along with their parents, siblings, grandparents and other relatives – 50 people in fact – met for the Annual CdLS Picnic in the Park. It was a glorious autumn day, 26° C, with clear blue skies and a gentle breeze – a perfect Queensland day for a picnic!

It was a wonderful opportunity for the two new families to meet other parents and caregivers and great for the “old timers” to catch up with each other. Mums that only knew each other through emails were able to meet face-to-face for the first time. Dads also were able to share their CdLS experiences whilst running after the kids and keeping them out of mischief.

This book is a compilation of over 400 recipes from CdLS Online Support Groups members and their families and friends. It is a collection of old and new favourites, family secrets or recipes traditional to their country of origin. Funds raised from this project will support the CdLS Online Support Group in the continuing costs of internet service provider fees and ensure that this group continues for many years to come. The cookbooks can also be used as an awareness tool to educate the reader about CdLS. Copies will be limited, so order yours today. (May 2002) Limited copies still available

FAREWELL TO OUR INTERNATIONAL VISITORS!!
On behalf of all the Australian families we extend a fond farewell to all our international delegates. Thank you for sharing this event with us and thank you for the memories.

So that you won't forget your Australian visit too quickly, please continue to enjoy the Australian sense of humour and language.

The following questions were received in the Australian Office of Tourism. We don't know what answers were sent in reply but the tongue-in-cheek answers below are some good examples of the Australian humour you may expect to come across while you're here. Read On

"G'day Mate!" is known the world over as being typically Australian. But this is just the tip of the iceberg when it comes to Aussie slang. Check out this web site for the translation of a few popular expressions.

So if you want to be in the know and have a yak or two, don't be left looking like a stunned mullet, have a bo-peep at this site and give the old strine a burl! (June 2003)