There are two important kinds of research that are needed to help individuals with MECP2 Duplication Syndrome and their families. Basic scientific research is needed to better understand the role of MECP2 and how excess MECP2 activity results in the syndrome. Clinical research is needed to relieve the symptoms of the syndrome and prolong the life of those experiencing its effects.
Of course, one might argue that basic scientific research can accomplish both of these outcomes, and this may be true. A great discovery in basic research could actually lead to a “cure” or at least a treatment that would relieve most or all of the symptoms. This would be wonderful. I truly hope that this happens and happens soon, but the odds are stacked heavily against this happening in the next 5 or 10 years, or even in the lifetimes of our family members affected by this syndrome.
Clinical research that addresses some of the specific symptoms, however, has the potential for meaningful relief from some symptoms in a much shorter time frame. Better methods of preventing and treating respiratory infections could be developed in the near future. A breakthrough in seizure management also might be possible. Progress in these areas are by no means certain, but they are much more likely achievable in the a matter of a few years and possibly less.
Looking at other genetic syndromes and diseases may provide useful examples. Cystic fibrosis, for example, is a genetic disorder that was well described by the 1930s. Research has been well funded, and there has been substantial progress in understanding the genetics and physiology of CF. Decades of research, however, have not found a cure or even a treatment for the underlying condition. In spite of this, however, clinical research has resulted in much better control of the symptoms and very substantial increases in life expectancies. In 1960, most children born with CF did not live to their first birth day. Today, most will live past their 40th birthday. Increasing numbers live normal lives and have families of their own.
Of course, clinical research and basic research are not mutually exclusive. In fact, they support each other. We need both of these for better lives and better futures.