Pioneering stem cell gene therapy cures infants with bubble baby disease

FINDINGSUCLA researchers have developed a stem cell gene therapy cure for babies born with adenosine deaminase-deficient severe combined immunodeficiency, a rare and life-threatening condition that can be fatal within the first year of life if left untreated.In a phase 2 clinical trial led by Dr. Donald Kohn of the  Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA, all nine babies were cured. A 10th trial participant was a teenager at the time of treatment and showed no signs of immune system recovery. Kohn’s treatment method, a stem cell gene therapy that safely restores immune systems in babies with the immunodeficiency using the child’s own c ells, has cured 30 out of 30 babies during the course of several clinical trials.BACKGROUNDAdenosine deaminase-deficient severe combined immunodeficiency, also known as ADA-SCID or bubble baby disease, is caused by a genetic mutation that results in the lack of the adenosine deaminase enzyme, which is an important component of the immune system. Without the enzyme, immune cells are not able to fight infections. Children with the disease must remain isolated in clean and germ-free environments to avoid exposure to viruses and bacteria; even a minor cold could prove fatal.Currently, there are two commonly used treatment options for children with ADA-SCID. They can be injected twice a week with the adenosine deaminase enzyme — a lifelong process that is very expensive and oft...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news

Related Links:

In this study, we generated induced pluripotent stem cells (iPSCs) from UC-MSCs using mRNA reprogramming and focused on the differentiation of reprogrammed iPSCs into functional cardiomyocytes. For cardiac differentiation, the spontaneously contracting cell clusters were present on day 8 of differentiation. Immunostaining studies and cardiac-specific gene expression confirmed the cardiomyocyte phenotype of the differentiated cells. Electrophysiology studies indicated that iPSCs derived from UC-MSCs had a capacity for differentiation into nodal-, atrial-, and ventricular-like phenotypes based on action potential characteris...
Source: Cell and Tissue Research - Category: Cytology Source Type: research
AbstractAutophagy is crucial for the removal of dysfunctional organelles and protein aggregates and for maintaining stem cell homeostasis, which includes self-renewal, cell differentiation and somatic reprogramming. Loss of self-renewal capacity and pluripotency is a major obstacle to stem cell-based therapies. It has been reported that autophagy regulates stem cells under biological stimuli, starvation, hypoxia, generation of reactive oxygen species (ROS) and cellular senescence. On the one hand, autophagy is shown to play roles in self-renewal by co-function with the ubiquitin-proteasome system (UPS) to promote pluripote...
Source: Cell and Tissue Research - Category: Cytology Source Type: research
Publication date: 18 October 2018Source: Cell, Volume 175, Issue 3Author(s): Frank Soldner, Rudolf JaenischThe derivation of human embryonic stem cells (hESCs) and the stunning discovery that somatic cells can be reprogrammed into human induced pluripotent stem cells (hiPSCs) holds the promise to revolutionize biomedical research and regenerative medicine. In this Review, we focus on disorders of the central nervous system and explore how advances in human pluripotent stem cells (hPSCs) coincide with evolutions in genome engineering and genomic technologies to provide realistic opportunities to tackle some of the most deva...
Source: Cell - Category: Cytology Source Type: research
Biolife4D has achieved a milestone in its ultimate quest to develop human organs for transplant. The company recently announced that it has developed a cardiac patch using a highly specialized 3D printer designed to protect living cells during the printing process. The patch is designed to help patients recover heart function after an acute myocardial infarction, said Ravi Birla, PhD, the company’s chief science officer, in an interview with MD+DI. “Over several weeks, acute myocardial infarction results in scar formation and progresses to chronic heart failure, severely damp...
Source: MDDI - Category: Medical Devices Authors: Tags: 3-D Printing Source Type: news
Conclusion The intrarenal RAS is activated in kidney transplant donors immediately after kidney donation, independent of the systemic BP and filtration of increased plasma AGT, due to augmented inflammation. PMID: 30333423 [PubMed - as supplied by publisher]
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Authors: Sachiyo O, Masahiro T, Tsutomu T, Makoto I, Yutaka H, Nobumasa M, Takamichi K, Nozomi O, Shinpei M, Kazuhiro T, Yusuke K, Masanori O, Yusuke K, Yasuhisa H, Kazuo H, Yasumasa N Abstract Fanconi anemia (FA) is a disorder of chromosomal fragility characterized by progression to aplastic anemia, myelodysplastic syndrome, and leukemia. FA patients are also predisposed to solid cancers. A case of FA in an adult patient who developed tongue and superficial esophageal cancers following hematopoietic stem cell transplantation is reported. This case was considered significant because it is the first reported case of...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
I suppose I should say something about the recently announced work ofShoukhrat Mitalipov of Oregon Health and Science University, who claims to have successfully edited the genome of human embryos, in this case to eliminate a disease causing mutation. This work is as yet unpublished and not peer reviewed, but let's assume it is sound.The technique, which has been much in the news, is calledCRISPR/Cas9.I'm not going to go into the technical details here but you can certainly look it up if you are interested,the Wikipedia article is actually reasonably accessible if you have some basic understanding of genetics. But getting ...
Source: Stayin' Alive - Category: American Health Source Type: blogs
Two leading children ’s hospitals —UCLA Mattel Children ’s Hospital, part of UCLA Health, and  Miller Children ’s&Women ’s Hospital Long Beach, part of  MemorialCare Health System— announced today their intent to form a strategic affiliation that brings together their academic, clinical and research expertise, and resources to enhance children’s health care services in Southern California.The two organizations, which share similar missions and values, plan to establish a wider geographic pediatric collaboration that strengthens and broadens their ability to offer the ...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
Follow me on Twitter @drClaire Every year, the Centers for Disease Control and Prevention (CDC) and the American Academy of Pediatrics (AAP) update the recommendations for immunizing children from birth to 18 years. This past week, the latest changes were published. The changes are usually small, and this year is no exception. But they are important — and they are a sign of how these organizations, and all the scientists who study immunization, take immunization effectiveness and safety very seriously. There is ongoing research to be sure that vaccines do everything we want them to do. As that research is done, disco...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Children's Health Infectious diseases Parenting Prevention Vaccines Source Type: blogs
Written By Myra ChristopherMy mom was a steel magnolia (i.e., southern and perfectly charming), but she had a steel rod up her back. After her first surgery for stomach cancer at age 53, she refused pain medication because she said that she “could take it.” She was young and strong and committed to “beating cancer.” After nearly two years of chemotherapy, radiation and two more surgeries, the cancer won. Eventually, I watched her beg nurses to give her “a shot” minutes before another was scheduled and be told they were sorry but she would have to wait. I could tell by the expressions on ...
Source: blog.bioethics.net - Category: Medical Ethics Authors: Tags: Health Care chronic pain Opioid addiction Opioid Epidemic Opioid prescriptions syndicated Source Type: blogs
More News: Allergy & Immunology | Babies | Babies Heart Conditions | Bone Marrow Transplant | Cardiology | Children | Clinical Trials | Environmental Health | Food and Drug Administration (FDA) | Gene Therapy | Genetics | Grants | Heart | Heart Transplant | Hospitals | Lung Transplant | Microbiology | National Institutes of Health (NIH) | Pediatrics | Science | Sickle Cell Anemia | Stem Cell Therapy | Stem Cells | Study | Transplant Surgery | Transplants