The names are complex, but the human impact of inherited diseases like these is simply devastating:
- Hypertrophic cardiomyopathy (HCM): a genetic abnormality affecting up to 500,000 people — and the leading cause of sudden cardiac death among adolescents.
- Fragile X syndrome (FXS): the most common inherited cause of intellectual disabilities and the most common known cause of autism.
- Adrenoleukodystrophy (ALD): a rare disorder that causes damage to the fatty covering on nerve fibers in the brain, resulting in serious medical, developmental and mental health difficulties.
- Spinocerebellar Ataxia 3 (ASC-3): a genetic defect that leads to impairment of nerve cells in the brain and loss of muscle strength and control.
Today, there is hope. Although vastly different, the diseases above have three commonalities: they are all life-impairing or life-threatening; they are all caused by genetic flaws; and, they are all being studied through human embryonic stem cell lines generated by the University of Michigan MStem Cell Laboratories.
This remarkable resource enables scientists to study genetic illnesses in the laboratory — for these and potentially more than 200 different genetic disorders — and dramatically increase the potential for finding solutions.
MStem Cell Laboratories is achieving international prominence and opening doors to scientific breakthroughs.
However, financial support for embryonic stem cell research is not available from federal sources; we rely almost exclusively on private donations to fund the U-M program. An investment in stem cell research at U-M will provide necessary resources to allow Dr. Smith and his team to engage and educate public and research communities, advance vital research efforts across the country, and provide answers for families that have long struggled with fear and suffering because of genetic defects.
Why it matters
Embryonic stem cells form in the earliest stages of development and are important because they give rise to every cell of the body. When a disorder is inherited through genetic abnormalities, disease-specific human embryonic stem cells can be used to understand how the disorder functions at different cellular and organ levels.
Studies using different types of stem cells are adding to our knowledge about diseases and abnormal development. However, MStem Cell’s disease-specific human embryonic stem cells are the gold standard and represent the purest pathway to success in understanding disease establishment, progression and discovery of ways to prevent or alleviate pain and suffering caused by these diseases.
Gary D. Smith, Ph.D., director of the U-M MStem Cell Laboratories, works closely with clinical scientists who are delving into the causes and cures for inherited diseases. U-M’s unique collaborations between clinicians and laboratory scientists provide an environment ripe for success. Through human embryonic stem cell lines developed in the MStem Cell Laboratories, our scientists are accelerating understanding of human diseases and developing new treatments and cures.
We have already made incredible progress. For example, with hypertorphic cardiomyopahty, a long-misunderstood heart disease, Dr. Smith’s team developed a human embryonic stem cell line with a genetic mutation known to cause HCM. The MStem Cell team then converted these stem cells into heart cells in their laboratory, and together with researchers in the U-M Cardiovascular Center our investigators discovered abnormalities in heart cell structure and function at the earliest stages of development — something never before seen. This means that scientists can determine where HCM begins, bringing us closer to treatments that may cure or prevent the disorder altogether.
Michigan research teams are collaborating with MStem Cell to find solutions to the inherited diseases listed above, plus many others. Researchers around the world can also use the lines generated by MStem Cell for study of the world’s most serious conditions. Among U.S. academic institutions, U-M has registered the most disease-specific human embryonic stem cell lines with the National Institutes of Health, making this crucial resource available to the broader scientific community.