Major Goals and Plans

The next five years will be crucial for the future of Medical Genetics clinical practice at Rady Children’s Hospital and UCSD, and will be pivotal in determining if the application of Genetics and Genomics advances to Pediatrics clinical practice is to be achieved at Rady Children’s Hospital. With the arrival of a new Division Chief, considerable effort will be directed to improving the academic orientation of Genetics at Rady Children’s Hospital and UCSD.

The plans for the Division of Genetics during the next 5-year period are thus as follows:

  1. We are in the process of reactivating an accredited Clinical Genetics residency and fellowship program. We expect to have this process completed before the start of the 2011-2012 academic year, and would like to bring in Clinical Fellows as of July, 2011. Dr. Marilyn Jones has agreed to serve as the Interim Director of the Genetics residency and fellowship.
  2. We will begin a monthly Clinical Genetics conference to be held at 7:30 AM one Friday / month just before Grand Rounds. All Division faculty will be expected to participate, and this conference will be directed at rotating medical students, residents, and fellows in Genetics and other subspecialty areas. We expect participation of local Clinical Genetics physicians at Balboa Hospital and Kaiser-Permanente, as well as Genetics Counselors at the monthly meeting. This meeting will serve as a focal point for the creation of a vibrant academic Clinical Genetics community at Rady Children’s Hospital – UCSD.
  3. We will be recruiting a Clinician X faculty member to join our Division and participate in the Clinical activities of our unit. This individual will be primarily based at Rady Children’s Hospital and will be expected to assume leadership of the Genetics residency – fellowship program.
  4. We will begin a monthly Human Genetics research conference to be held one Thursday at 12 PM per month on the UCSD campus. The purpose of this conference will be to bring together clinical practitioners and basic researchers to facilitate interaction and collaboration, especially as advances in Genetics and Genomics open up new opportunities for the discovery of genes responsible for a wide range of inherited and complex diseases.

In addition to these Division goals, individual faculty goals are as follows:

  • Drs. Barshop and Schneider, in association with Dr. Ranjan Dohil, will begin a national study of a new formulation of cysteamine to improve treatment of cystinosis.
  • Drs. Barshop and Naviaux will head two components of a project studying the stress response of patients with autism and mitochondrial disease, centering on metabolomics and molecular genetics, respectively.
  • Dr. Bird will continue the study, “Congenital Anomalies in Infants of Diabetic Mothers,” and recruit patients for the Rare Disease Clinical Research Network natural history study and treatment trial. She will participate in the development of an additional research protocol to evaluate the benefit of levodopa on motor problems in older children and adults with Angelman syndrome.
  • Dr. Friedmann plans to test the effects of RNAi knockdown of the HPRT gene in embryonic stem cells. He will also attempt to identify small molecules able to cause dopaminergic (DA) differentiation of fluorescently-marked ES cells by exposure to small molecule libraries and high throughput detection of cells expressing the fluorescent marker from a DA-neuronal-specific promoter. Dr. Friedmann will begin to apply the resources of the recently established WADA world-wide bioinformatics facility at UCSD to coordinate the extensive WADA research program in growth factors.
  • Dr. La Spada will be involved in the further development of the Institute for Genomic Medicine, and will work with Dr. Frazer and others to launch a new Genomics research program at Rady Children’s Hospital.
  • Dr. Levine will continue to focus on cell therapy for diabetes, as well as high throughput screening to identify small molecules that affect various aspects of pancreatic beta-cell growth and differentiation.
  • Dr. Muotri will be developing new methods of stem cell experimentation in the fields of autism and Rett syndrome. The Muotri lab explores mobile elements as generators of diversity during neuronal differentiation. These mobile elements may be part of a conserved genetic core process responsible for evoking facilitated complex non-random phenotypical variation in which selection may act. They use animal models, neural stem cells, human and other primates’ pluripotent cells and several molecular tools to investigate fundamental mechanisms of brain development, evolution and mental disorders, such as Autism Spectrum Disorders. 
  • Dr. Nyhan is launching a clinical trial centering on dopaminergic therapy in Lesch-Nyhan disease.
  • Dr. Cherqui is planning to develop an autologous, lentiviral vector-modified, CD34+ hematopoietic stem cell transplantation for cystinosis. The pre-IND meeting with the FDA was held in April and they approved the pharmacology/toxicology studies to be done to move forward to an IND for a phase I clinical trial.