Normal human cells contain two copies of each gene – one inherited from a mother, and one from a father. An international collaboration of scientists including NYSCF Senior Research Fellow and NYSCF – Robertson Investigator Dr. Dieter Egli created human stem cells, cells that can mature into any type of cell in the body, with only one copy of each gene. These cells are known as ‘haploid’ cells since they maintain only one set of the genome, half, as opposed to the normal two sets. The research, published in Nature, represents a landmark in research techniques and biotechnology. These haploid stem cells mark the first time scientists created cells that can grow and divide infinitely with only one copy of the human genome.
For scientists, this unprecedented achievement will accelerate the pace of biomedical research and potential cell-based therapies. Typically, two copies of a gene means that cells have two chances to get it right, make a protein that functions correctly. However, on rare occasions both copies of a gene are faulty which can lead to painful lifelong conditions. For example, individuals with sickle cell disease inherit two damaged copies of a protein in blood cells; likewise, those suffering from cystic fibrosis contain mutations in both of their genes for a protein that transports small molecules across cell membranes. Scientists making sense of gene functions and different diseases currently must manipulate genomes to try to remove both copies of their gene of interest. With haploid cells, researchers can readily cut out, engineer, or tweak the single gene copy, an invaluable tool for speeding up the process of discovery giving researchers the power to study more complex diseases like diabetes and Alzheimer’s which may involve multiple faulty genes.
Excitingly this study by researchers at The Hebrew University of Jerusalem, Columbia University Medical Center, and NYSCF establishes that despite only having one copy of the genome these cells can be coaxed into becoming cells of any type of the three germ layers in embryos. This means that not only can scientists maintain cells with half the normal amount of DNA in an undifferentiated, stem cell state, but that researchers can also transform these cells into any cell type of interest and readily manipulate the single-copy genome. Creating cell-based treatments, understanding disease and discovering what it means to be human is even easier with this NYSCF-enabled breakthrough.
(Image: A haploid cell with 23 chromosomes (left), and a diploid cell with 46 chromosomes (right). Credit: Gloryn Chia/Columbia University Medical Center)
NYSCF-Robertson Neuroscience Investigator Michael A. Long, NYU, cooled areas of the brain associated with speech to see the effects on patients. Previously, neuroscientists have relied on electrically stimulating brain regions to understand their functions and ensure that no critical parts of the brain are excised during surgeries to remove tumors and other operations. During these procedures patients remain awake so that doctors can assess the importance of different brain areas. However, stimulating the brain with electricity can trigger epileptic seizures. Dr. Long and his group developed a method to cool brain areas, rather than use electricity, to understand the critical nature of different brain areas and their connection to speech. The resulting study, published in Neuron, examines areas in the brain linked to speech using this method to disrupt speaking in patients undergoing surgical operations. The research shows that areas of the brain that control speech are positioned closely together, highly localized. Dr. Long also elucidates the function of brain structures, specifically identifying structures in the brain that control muscle movement of the tongue and lips and parts that control the speed of these muscle movements. Dr. Long hopes that this and downstream research will help the medical community develop more affective therapies to help patients who have lost the ability to speak.
NYSCF wants to transform stem cell treatments from dreams to reality. In order to move stem cell-based cures from the theoretical and into clinics, scientists must standardize and ensure the quality and safety of stem cell lines. NYSCF CEO and Co-founder Susan L. Solomon, NYSCF Vice President of Scientific Programs Dr. Michael Yaffe, and NYSCF Vice President of Stem Cell Research Dr. Scott Noggle co-authored a paper in Nature Cell Biology proposing strategies to lay the foundations for improving stem cell lines and establishing the authenticity of cells. The paper discusses the obstacles researchers face in confirming the authenticity and quality of current stem cell lines. Thousands of stem cell lines exist, generated through a variety of methods and scores of different labs. The publication explores how to understand quality and authenticity for this assortment of existing stem cell lines and how to set standards moving forward to reduce the variability and improve the quality of stem cell lines. As NYSCF leads the field of stem cell research towards greater standardization and reduced variability, NYSCF simultaneously pushes the field towards greater reproducibility. With standardized stem cell lines, scientists around the world can conduct the same experiments and attain the consistent results, further accelerating and generating efficiency in research and in the pursuit of cures.
Every year, the President awards a group of scientists with the Presidential Early Career Awards for Scientists and Engineers. This year, two NYSCF – Robertson Neuroscience Investigators received this recognition for their “early accomplishments show[ing] the greatest promise for assuring America’s preeminence in science and engineering” as stated by The White House Office of the Press Secretary. Assistant Professor Kay Tye of MIT controls neurons with light to understand social behaviors. Most recently she published a paper in Cell deciphering loneliness on an unprecedented microscopic scale. Hillel Adesnik, Assistant Professor of Neurobiology at University of California, Berkeley, studies perception in human and animals at the level of the neuron. Both Dr. Tye and Dr. Adesnik have made incredible strides in understanding what drives human and animal behaviors elucidating what it means to be human. Previous recipients include NYSCF-Robertson Neuroscience Investigator Gaby Maimon of Rockefeller University and NYSCF Advisor Kevin Eggan of Harvard University.
Scientists understand that socializing triggers the brain’s reward system. Brain cells in a specific region of the brain secrete dopamine, a chemical involved in addiction, movement and motivation. NYSCF – Robertson Neuroscience Investigator Dr. Kay Tye of MIT set out to make sense of how the brain responds to loneliness. Dr. Tye and her team discovered a role for brain cells that secrete dopamine, dopamine neurons, in a specific brain region which showed changes in activity after social isolation. Using light to control neurons, a technique known as optogenetics pioneered by fellow NYSCF – Robertson Investigator Ed Boyden, further revealed the role of these neurons in loneliness and socializing. The resulting study, published in Cell, helps researchers makes sense of loneliness on an unprecedented cellular level.
NYSCF CEO and Co-founder Susan L. Solomon spoke with Women’s Health’s Online Senior Editor Caitlin Abber for their new podcast “Uninterrupted.” Ms. Solomon participated in a lively discussion on women in science, an issue she has spearheaded to take actionable steps on and explored extensively within NYSCF’s IWISE, Initiative on Women in Science and Engineering, program. The podcast represents a new branch of Women’s Health magazine covering issues closest to women in health, culture, and politics.
The Wall Street Journal profiled Susan L. Solomon, NYSCF CEO and Co-Founder. Part of the “Weekend Confidential” series, previously headlining Robert A.M. Stern, Tom Colicchio, and Cynthia Breazeal, the piece features NYSCF’s work towards preventing mitochondrial diseases, supporting Alzheimer’s clinical trials, and finding a cure for diabetes. Writer, Alexandra Wolfe, highlights Ms. Solomon’s rich career history in executive positions in law and business before advocating for cures. The article honors Ms. Solomon’s vision of a nonprofit to accelerate critical research and improve treatments. She saw stem cell research as a field that was not moving quickly enough to realize its potential. She wanted to create a pathway to conduct research unencumbered by government regulation and funding. Since her son’s diabetes diagnosis, Ms. Solomon had long served as a patient advocate. In 2005, she co-founded NYSCF. Ms. Solomon shares with The Wall Street Journal the importance and intricacies of stem cell research and how stem cells can help scientists finally find cures for diabetes and other diseases in humans, rather than animal models.
Read the article on The Wall Street Journal >>
The New York Stem Cell Foundation (NYSCF) applauds the National Academies of Sciences, Engineering, and Medicine’s Institute of Medicine (IOM) report released on February 3rd, 2016 that states mitochondrial replacement therapy is ethical, as long as specific conditions and principles are met. A woman with a family history of mitochondrial diseases or who has had a child with such a disease has few options if she wants to have healthy children. NYSCF has been working for several years to bring this new therapy to patients and is pleased that one further hurdle has been overcome to bring MRT to these families.