Preclinical & Translational Programs
The 22q11.2 Deletion Syndrome (22q11DS) Consortium Team embarked upon pioneering research into the immune dysfunction in 22q11DS patients. Its work focuses on the central role of the thymus, which produces T cells able to orchestrate an immune response. At the time, little was known about the precise changes in the thymus of patients affected by 22q11DS that could precisely explain their lack of a normal immune response. The consortium has made significant and exciting progress in our understanding of the cellular and molecular consequences of 22q11DS. This knowledge will be important for novel treatments in the future to establish a normal immune system in these patients and eventually for elderly patients with immune system dysfunction.
Binns Program for Cord Blood Research
The Binns Program for Cord Blood Research (BPCBR) has a mission to advance research into a wide array of blood and immune disorders, from leukemia to sickle cell disease, by providing Stanford researchers with access to umbilical cord blood, a critical but often overlooked source of stem cells.
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Center for Genetic Immune Diseases (CGID)
The mission of the Center for Genetic Immune Diseases (CGID) is to transform the lives of patients with unresolved immune deficiencies and immune dysregulation by (a) facilitating identification of the genetic causes of diseases and favoring the diagnosis and understanding of the mechanism of the immune-mediated clinical manifestations (b) caring through targeted and innovative treatments and (c) increasing awareness of these diseases within the Stanford community of physicians of different specialties. In the five years since its inception, CGID has enrolled over 120 patients and can identify the genetic issue responsible for a child’s disease 65 percent of the time. After pinpointing the gene, we provide targeted therapies aimed at not just reducing symptoms, but at addressing the root cause of the dysfunction.
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For questions about CGID contact Angelica Martinez at firstname.lastname@example.org.
Program for Inherited Metabolic Disorders (PIMD)
Neurometabolic diseases are a group of genetic conditions that result from serious defects in metabolism and that generally present in children with relentless neurocognitive decline. The Program for Inherited Metabolic Disorders (PIMD) was established to offer a dedicated clinical program for patients and families with neurometabolic diseases, particularly lysosomal and peroxisomal disorders, and to foster the development and clinical testing of definitive and curative therapies for these diseases. Towards this end, we created a multidisciplinary team that includes clinicians with know-how on the clinical management of these patients, and basic scientists with expertise in the biology of these diseases, and gene and cell-based therapy development. Since its inception, the PIMD has gained significant expertise in the use of hematopoietic stem cell transplantation for the lysosomal storage disorders Mucopolysaccharidosis type 1 (MPS1), Metachromatic leukodystrophy (MLD), and the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD). The PIMD has two preclinical programs that aim to establish autologous transplantation of genome-edited hematopoietic stem cells for Mucopolysaccharidosis type 1 and Gaucher disease. In the near future, we will be launching several industry-sponsored clinical trials using gene therapy or combine gene and cell-based therapies for neurometabolic disorders including X-ALD.
Taube Pediatric Neurodegenerative Disease Program
The Taube Pediatric Neurodegenerative Disease Program is supported by a generous gift from the Taube Foundation, facilitated by the work of Harvey Cohen, former Department of Pediatrics Chair, this program supports a wide range of research activity ranging from discovery research in the lab to clinical research at LPCH. The Program also supports Dr. Natalia Gomez-Ospina as the inaugural Taube Scholar in Pediatric Neurodegenerative Diseases.