Spinal Muscular Atrophy is a rare genetic disorder, characterized by a loss of motor function. Researchers have developed treatments for people with this rare genetic disorder, and this lesson highlights families and patients who are excited about new treatments but also discusses how the cost of these new advances prohibit access for people who might benefit.
PROJECT NARRATIVE Though any single rare disease is by definition uncommon, together these diseases affect nearly 30 million individuals in the United States, two-thirds of whom are children, and contribute significantly to morbidity, mortality, and healthcare costs. Exome and whole genome sequencing have the potential to provide a diagnosis to an estimated 25 to 50 percent of those patients struggling with undiagnosed rare diseases, but the downstream costs and benefits of this testing beyond diagnosis remain largely unknown.
PROJECT NARRATIVE Researchers are now able to use the internet to recruit and enroll widely dispersed individuals, which is valuable for a wide range of research, especially research involving rare genetic disorders. With IRB approval, online recruitment and enrollment of individuals from the same country as the researchers is permissible, including obtaining biological specimens and health information, but it is unknown whether recruitment and enrollment of individuals from foreign countries would violate the laws of those countries.
Despite the vast diversity of its populations, genetic studies in Africa have been limited. African populations, Malians in particular, have a high rate of intra-ethnic and consanguineous marriage, resulting in increased prevalence of autosomal recessive diseases. Family-based genetic studies can be limited in developed countries due to small sib ships. The average fertility rate in Mali is over 6 births per woman, offering a unique opportunity to find new disease genes or mutations that can then be studied in other populations.
New techniques for genomic research are being developed to take advantage of the ability to contact research participants directly, without utilizing physicians, hospitals, or biobanks. Researchers are now able to use the internet to recruit and enroll research participants in genomic studies by using an online application and consent process. Participants send their health records electronically and ship a sample of blood or saliva to the researchers.