My previous blog (How can the same deletion have such different consequences?) ended with a discussion of science leadership. I asked the question, “Why have we not benefited?” That is, why have 22q13 deletion syndrome children like my son, David, seen little or no benefit after decades of research? I have heard many reasons: limited number of patients, limited financial resources, limited knowledge, etc. I frequently hear even less convincing phrases like, the research is “very promising” and “scientists are doing their best”.
However, these are not reasons for lack of results. These are reasons that emphasize the need for qualified, family-centric science leadership. In the previous blog I identified another chromosome deletion syndrome (18q deletion syndrome) with all the same difficulties, yet their story is much different (See the scientific articles Making chromosome abnormalities treatable conditions and Consequences of chromosome 18q deletions). Research on 18q deletion syndrome has been enormously successful in plotting a scientific course towards treatments. Since writing that blog I discovered why. Rather, who: Jannine Cody. Dr. Cody got her PhD to develop treatments for her daughter with 18q deletion syndrome. The success of 18q comes from the science leadership of Dr. Cody. Dr. Cody is a qualified scientist without any other conflict of interest. She is committed not only to every family, but also to the impact of each and every gene on the long arm of chromosome 18. I encourage you to watch the YouTube and hear her story. Science leadership makes all the difference in the world.