The Conquer Fragile X Foundation’s Scientific Advisory Board includes researchers, clinicians and practitioners from institutions throughout the world. Each of our scientists is renown in their field, highly trained and experienced and brings a unique perspective to their work and to our Foundation. Each issue of our newsletter features one Scientific Advisory Board member, and in this issue we are very proud to spotlight Brenda Finucane.

Brenda Finucane, M.S., C.G.C.

Brenda is a genetic counselor and the Director of Genetic Services at the Elwyn Training and Research Institute in Media, Pennsylvania. Elwyn is a private, nonprofit corporation which provides a variety of residential and day services for people
Brenda Finucane with one of her many adult friends with fragile X with developmental disabilities in the U.S. and overseas. Since 1985, Ms. Finucane has been providing genetic diagnostic and counseling services within an educational setting, allowing her the unique opportunity to research and apply practical knowledge about fragile X syndrome. She has been directly responsible for the diagnosis of over 80 children and adults with fragile X syndrome within the Elwyn System alone. She is an active participant along with educators, psychologists and other school personnel in team meetings and behavioral planning for both day and residential students. Through Elwyn's Technical Assistance for Schools program, she has also had many opportunities to visit schools throughout the U.S. to provide staff training and to assist in the development of education and behavior pans for students with fragile X syndrome. She states, "I feel strongly that the benefits of a fragile X diagnosis should extend beyond the valuable genetic information provided to families. There is a rich body of research on behavior and learning styles in these individuals which has immediate applicability at school and in the home. I strongly

support the work of CFXF in fostering research into the molecular underpinnings of fragile X syndrome, and in its interest in discovering a cure at the biochemical level. Until that dream is realized however, there is still much we can do to ameliorate symptoms in children and adults with this condition."

In addition to her work with CFXF, Ms. Finucane is a member of the Scientific and Clinical Advisory Committee of The National Fragile X Foundation, and she serves as a contact for newly-diagnosed families within the mid-Atlantic region. Her work in genetics extends to many other syndromal causes of developmental disabilities, and she is widely published. Recent publications include an updated edition of Fragile X Syndrome: A Handbook for Families and Professionals (in press) which is distributed by The National Fragile X Foundation. In 2000, she co-authored the book, Genetics and Mental Retardation Syndromes: A New Look at Behavior and Interventions (Brookes Publishing Company) with UCLA psychologists Elisabeth Dykens and Robert Hodapp

It seems that in each issue of our Newsletter we are able to report a new research finding that could become a breakthrough if intensive research is continued. In this issue, we report a study that identifies significantly lower cancer rates among fragile X adults than in the general population. Recently, a god deal of progress has been made in understanding mechanisms of and developing potential treatments for inherited single gene disorders such as Fragile X. There are various types of interventions and techniques used by laboratory scientists as they approach their work. Currently, most fragile X research has been focused in three areas:

Gene Therapy - studying the gene that causes Fragile X in order to determine whether a healthy gene may be inserted into the cells of affected individuals, thereby replacing the mutated, ineffective gene.

Protein Replacement Therapy - studying the protein product that is lacking due to the mutation, in hopes that the protein may be supplemented from an external source.

Psychopharmacology - treating the symptoms of the disorder with medication. Many researchers believe that medical treatment, when it becomes available, will be able to help fragile X individuals of all ages.

Several factors make the intensification and coordination of Fragile X research extremely compelling:

• The prevalence of the disease is, in fact, staggering - it affects one in 2,000 males and 1 in 4, 000 females, over 2,000,000 are afflicted worldwide. Those affected, including the families, number in the millions.
• The potential for the development of a cure is great.
• Fragile X is a powerful research model for other forms of X-linked mental retardation and neuro-psychiatric disorders, including autism, schizophrenia, mood disorders, and pervasive developmental disorder.

Today, most children and adults with fragile X remain significantly affected throughout their lifetime. Existing medical, educational and social interventions can be applied to maximize the potential of each individual, but public and private cost of these interventions can be applied to maximize the potential of each individual, but public and private cost of these interventions is tremendous, an average of $2,000,000 over a lifetime. We strive to raise awareness of the disorders so that pediatricians will more often test for the disorder and schools may use early intervention methods and academic support structures to maximize the potential of each fragile X child. And, continued funding of Fragile X research projects is of the utmost importance if a cure is to be found soon. In our next newsletter, we will describe each of the projects CFXF currently funds and how they advance the entire body of fragile X research towards a cure.