NYSCF - Robertson Stem Cell Investigator Dr. Gabsang Lee, of John's Hopkins University School of Medicine, was senior author on a Cell Stem Cell paper describing the successful reprograming of patients' skin cells into neural crest cells then adult cell types that display many biological features of familial dysautonomia, a rare genetic disorder.
Critically, the scientists developed a protocol that skips the induced pluripotent stem cell step, reducing the time needed to make neural crest cells that are more similar to familial dysautonomia patients' own cells by seven to nine months.
While less than 500 patients worldwide suffer from familial dysautonomia, dysfunctional neural crest cells cause a multitude of diseases including familial dysautonomia, facial malformations and an inability to feel pain among others. This research has the potential to transform and accelerate research on all neural crest disorders.
In conjunction with the Alzheimer’s Disease Resource Center (ADRC), NYSCF presented their latest Alzheimer’s research at the Jewish Center of the Hamptons in East Hampton. Presentations by NYSCF CEO Susan L. Solomon, NYSCF Vice President for Stem Cell Research Dr. Scott Noggle, and President of ADRC Mary-Ann Ragona explored all aspects of Alzheimer’s disease, treatment, and research.
In addition, NYSCF Leadership Council member Carol Roaman graciously hosted NYSCF scientists and guests at a cocktail reception at her house in East Hampton. Guests mingled and spoke with NYSCF scientists, learning about the latest advances in stem cell research for many disease areas such as multiple sclerosis, bone engineering, and Parkinson’s disease among many others.
NSYCF – Druckenmiller Fellow Alumnus Dr. Marco Seandal of Weill Cornell Medical College published his latest research on how paternal age effects genetic mutations in Stem Cell Reports.
The scientists' experiments showed enhanced fitness of sperm stem cells with a specific age-related mutation. In addition, the scientists model will be useful for testing many different age-related genetic mutations carried by sperm to reveal mechanisms of disease.
Researchers at the Harvard Stem Cell Institute, led by NYSCF Chief Scientific Officer Dr. Kevin Eggan, discovered a new, promising treatment for ALS, or Lou Gehrig's disease. The research leading to this discovery began eight years ago and was initially and continuously supported by NYSCF.
Published in Science Translational Medicine, the scientists showed that genetically intervening in a biological pathway associated with ALS resulted in an increased survival rate of 5-10% in an animal model.
Critically, the scientists confirmed that this biological pathway is identical in animal models and in the human disease cells in a dish, forwshadowing the potential future elimination of animal model testing for ALS and other diseases.
A team of NYSCF scientists, led by Dr. Andrew Sproul, mapped the electrophysiological properties of human induced pluripotent stem (iPS) cell-derived forebrain neurons. The research, published in PLOS One, described the scientists' abilities to track minute electical changes between cell membranes during different stages of neuron differentiation.
Understanding the electophysiological properties of derived neurons is crucial for basic research and translational research of all types of derived neurons. Neuron functionality and characteristics are also necessary data for use in eventual cell replacement therapies for diseases such as Alzheimer's disease or other neurological disorders.
Nature recently featured a profile on the education, background, and dynamic cross-discipline work of NYSCF Scientist Dr. Giuseppe Maria de Peppo. Dr. de Peppo focuses his research on engineering bone from stem cells using his background in technology and induced pluripotent stem cell research. His work developing the first ever vascularized bone tissue from stem cells was published last year in the Proceedings of the National Academy of Sciences of the USA and highlighted in the Wall Street Journal and other news outlets globally.
NYSCF - Robertson Stem Cell Investigator, Dr. Alex Meissner of Harvard University, mapped the methyl and demethylation patterns in human cells before and after fertilization. While this has previously been done extensively in mice, human DNA methylation patterns and changes are not fully understood.
The research, published in Nature, describes full genome DNA maps of methylation patterns in human cells during preimplantation development and embryonic stem cell derivation. The scientists confirmed that paternal genome demethylation is a general attribute of early mammalian development.
NYSCF - Robertson Stem Cell Investigator Dr. Paola Arlotta, of Harvard University, published her latest work on gene co-regulation in Nature Neuroscience.
The regulatory logic, or rules, that orchestrate the expression of the unique combinations of genes in each neuron class is unknown. In this study the scientists discovered that Fezf2 is the first selector gene able to regulate on its own the expression of large batteries of genes that collectively define corticospinal motor neurons (CSMN). CSMN are one specific class of cortical neurons responsible for the initiation and fine execution of motor function.These neurons are affected in diseases like ALS and are injured in spinal cord injury.
This is the first discovery of a selector gene for any class of neurons of the cerebral cortex and will aid efforts to program CSMN from stem cells in order to model disease affecting CSMN in vivo.