History of the CGRF
by Raphael Schiffmann M.D., M.HSc.

History of the CGRF<br />by Raphael Schiffmann M.D., M.HSc.
In the summer of 1991 I joined the Clinical Investigation Section at the Developmental and Metabolic Neurology Branch, National Institutes of Neurological Disorders and Stroke, at the National Institutes of Health in Bethesda, Maryland. I had the honor of working with Dr. Roscoe Brady, the world’s foremost expert in Gaucher disease. In our clinic we saw families from around the world who had children with neuronopathic Gaucher disease; a progressive, and more often than not a fatal disease. Families would arrive on Monday, and the children would endure five days of evaluation and testing. This was an investigative clinic, we had no cure, but the families understood that their child was receiving the best medical care possible, and that their participation was helping to further our understanding of this debilitating disease.

A New Family Arrives

In February of 1994, a family from California had arrived with their 1-year-old son for their first visit at the NIH. As I interacted with this family that first week I was impressed with their proactive nature. They had many questions – many of which were answered well into the evening hours after a long day of testing. Although I would arrive home late on those evenings, I did not mind because the questions were intelligent and thoughtful. To my surprise, prior to each subsequent visit I would receive from this family a Federal Express package – whereby the questions were sent in advance. Eventually they asked two questions that were very difficult to answer.

  1. How is the disease affecting Gregory’s brain?
  2. Is anyone doing research to find a cure?

To the first question I answered “we do not know” and to the second I answered “not really … any serious research”. I knew this was disheartening news, but at the time it was the truth.

Gregory Passes Away … The CGRF is Born

Greg and Deborah Macres lost their son Gregory to Gaucher disease in April of 1997. I was pleased that subsequent to Gregory’s passing the family continued to stay in touch, and often discussed the possibility of establishing a charity to fund research on Gaucher disease. I was supportive, but withheld my enthusiasm understanding that this family was still coping with the grief of losing a child.

Thinking back to those phone calls some 12+ years ago I never imagined that this desire, spawned by the devastating loss of a son, would result in the Children’s Gaucher Research Fund and the progress they have made over the past 10 years. The Macres family, and other families from around the country, began raising funds, and in 2001 they found their first opportunity to fund serious research on neuronpathic Gaucher disease. It was in the form of a newsletter I sent to the Macres’s from the Weizmann Institute of Science in Israel. In that newsletter there was a small article written by Dr. Tony Futerman indicating that they had formulated a theory, and his laboratory had a keen interest in investigating their theory as to how the brain is affected in children with neuronopathic Gaucher disease. Prior to this I had not met Dr. Futerman, but that year I visited his laboratory in Israel. I was very impressed with his facility, and to my surprise found that we had similar views as to what might be causing brain disease in these children.

Ten Years of Work … Ten Years of Progress

Over the past ten years the CGRF has funded Dr. Tony Futerman’s laboratory, resulting in very important research that has been published in nine separate scientific journal articles. Today, the answers to those two difficult questions sited above have very different answers. Because of the efforts of the CGRF we are significantly closer to understanding how the brain is affected, and yes, there is now serious research being pursued. Additionally, the CGRF recently funded the creation of an Inducible nGD Mouse Model; if successful this will significantly advance serious research in coming years.

Rare Diseases and Families

Often rare diseases do not attract interest or funding, and frequently sit idle for many years with little progress. Over the years however, families have made great contributions to medical research on rare diseases. It usually comes in the form of funding basic scientific research, thus creating the building blocks of understanding. Once these building blocks of understanding are put in place the disease then attracts more interest, and more funding for research. The CGRF has done just this – funding basic science – resulting in publications in scientific journals – sponsoring three international scientific conferences with a fourth scheduled for 2012 – the funding of the Indiclble nGD Mouse that will be available for use by laboratories around the world – links that have been made with some of the 26 other lysosomal diseases that affect the brains in children – the potential connection to Parkinson’s – all contributing to bringing us further down the road toward a cure.

Those Two Questions … Now Have Different Answers

Thanks to those of you who support the efforts of the CGRF, the answers to those two questions sited above are markedly different than they were on that day at the NIH; when a mother and father were simply trying to understand how they could best help their son. We believe, because of your support, that the building blocks are in place and that a new phase in nGD research is around the corner.

Dr. Raphael Schiffmann M.D., M.H.Sc. – Director of the Institute of Metabolic Diseases at the Baylor Research Institute in Dallas, Texas, and Chairman of the Scientific Advisory Board for the Children’s Gaucher Research Fund.

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