Stem cell gene therapy offers new hope for treatments – and even cures – for a range of genetic conditions.
Donald Kohn in the Department of Microbiology, Immunology and Molecular Genetics is testing novel approaches to treating genetic diseases such as Sickle Cell Disease (SCD) and Severe Combined Immune Deficiency (SCID), also known as “bubble baby disease.” In these diseases, an inherited mutation in a single gene causes blood cells in bone marrow to malfunction. Today, more than 40 SCID babies are living infection-free thanks to a new approach developed in Kohn’s lab that doesn’t rely on a perfectly matched stem cell donor. Instead, the patient’s own stem cells are extracted, a normal copy of the relevant gene is added, or that gene is fixed, and these are transplanted back to the patient. These “self” transplants are safer since the patient’s cells are a perfect match. Based on the success of the SCID trial, a clinical trial for SCD will begin soon.
The word “pandemic” conjures up fears of disease, contagion and global catastrophe, from the Black Death to HIV/AIDS to Ebola.
Jamie Lloyd-Smith in the Department of Ecology and Evolutionary Biology studies the conditions in which deadly viruses circulating in animal populations, such as avian influenza and Nipah, a bat-borne virus, can cross over and cause human pandemics. He builds mathematical and computer models, and integrates ideas and data across disciplines, from molecular biology to climate change. The result is new understanding of how ecological dynamics in wildlife populations, evolutionary pressures on pathogens, and changes in human societies can combine to form the conditions for pandemics. He recently discovered that we’re all already protected against some avian influenza strains, with immunity that varies depending on our birth year and the first seasonal flu strain we caught. Lloyd-Smith’s work is providing new tools to prioritize pandemic threats, so we can spot the next big one before it strikes and take action to prevent it.
Autism and other neurological disorders are poorly understood.
This could soon change, thanks to Xinshu (Grace) Xiao in the Department of Integrative Biology and Physiology, who researches RNA abnormalities. While DNA contains the instructions for life, RNA acts as a messenger that carries out these instructions and plays essential roles in health. The same piece of DNA can generate multiple versions of RNA through transcription and RNA processing, possibly leading to different protein sequences. Xiao and her collaborators recently discovered differences in the brains of autism patients involving RNA editing, in which genetic material is normal, but modifications in RNA alter nucleotides. The study identified two proteins, FMRP and FXR1P, which regulate abnormal RNA editing in autism. FMRP is known to be a critical protein to autism pathogenesis, and mutations in FMRP cause Fragile-X syndrome, a disorder closely related to autism. Xiao hopes to reveal new insights into autism mechanisms and causes, which could lead to new treatments for this and other neurological disorders.
Current cancer therapies are often ineffective, toxic to the patient, and do not prevent relapse. Immunotherapy has shown great promise as part of a new generation of cancer medicine.
Lili Yang in the Department of Microbiology, Immunology and Molecular Genetics is developing novel immunotherapies to fight cancer with the body’s own immune cells, specifically invariant natural killer T (iNKT) cells. Our immune system comprises a small, powerful network of blood cells that survey, detect and destroy harmful invasions by germs or viruses. Some cancers can evade immune system detection because it’s the body’s own cells that have turned malignant through rapid, uncontrolled division. Yang aims to develop gene therapies that engineer patient immune systems to recognize and kill cancer cells while leaving healthy tissue unharmed. If clinical trials with iNKT cells are successful, it has the potential to become a general immunotherapy for treating multiple cancers.