Monday, April 04, 2011
First conference held for families affected by Chediak-Higashi Syndrome
Oyster Bay, NY – The Chediak-Higashi Association, a division of the Hermansky-Pudlak Syndrome Network, held its first-ever conference for families affected by Chediak-Higashi Syndrome in March.
The conference was co-located with the Hermansky-Pudlak Syndrome Family Conference. For two days the groups shared programming, and on the final day CHS families had a chance to meet with some of the world’s leading CHS researchers.
Presenters at the CHS conference included:
• Dr. Wendy Introne , a pediatrician, clinical and biochemical geneticist involved in clinical research on rare genetic conditions at the NIH. Her current work includes clinical protocols investigating rare disorders such as Chediak-Higashi Syndrome, Alkaptonuria, and Smith-Magenis Syndrome.
• Camilo Toro, M.D. a Clinical Neurologist at the National Institutes of Health (NIH) in Bethesda Maryland. Dr. Toro is a member of the clinical team at the Undiagnosed Diseases Program (UDP). Dr. Toro has interest in the diagnosis of rare neurological disorders and the characterization of neurological issues that accompany rare metabolic and genetic disorders. Dr. Toro spoke on the spectrum of neurological problems in CHS, their possible cause and potential management strategies.
• Dr. Andrew Cullinane is a post-doctoral medical research fellow at the National Institutes of Health in Bethesda MD, where his research focuses on both the molecular (DNA) and cell biology of hypo-pigment disorders such as Hermansky-Pudlak Syndrome, Chédiak-Higashi Syndrome and Griscelli Syndrome.
“The conference provided us with an opportunity to get reacquainted with the NIH docs and the status of their research and, more importantly, to create a sense of community with other CHSers,” says Jackie Galauskas, mom of a five-year-old with CHS, “It was the first time since Samantha's diagnosis that we were able to come face-to-face with other families whose fates are similar to our own; to be comforted by the proximity of those who understand where we have been and who share our concerns for the future.”
This year the CHS Association plans to continue to grow the CHS family community through fundraising, fellowship and outreach. They hope to hold future conferences for families as well as to find ways to support medical research.
Chediak-Higashi Syndrome is a rare genetic disorder that causes (in most cases) albinism, decreased visual acuity, a bleeding tendency, immune deficiency and neurological complications in adolescence and early adulthood.
The Chediak-Higashi Syndrome Association is a division of the Hermansky-Pudlak Syndrome Network, a 501(c)3 non-profit serving families affected by these genetic syndromes related to albinism. For more information about the HPS Network, go to: www.hpsnetwork.org.