Grants

2010-2011 Innovative Projects

• Exploring and Identifying the Knowledge Level and Attitudes of (selected) Diverse Populations Toward Genetics and Genetic Services.

  Patricia Rismiller of Simmons College will organize and oversee focus groups to determine participants’ knowledge level and attitudes towards genetics and genetic services. The participants will represent two selected diverse populations, Haitians and Somalis living in the Boston area. Once knowledge and attitude deficits are identified, the goal is to develop culturally appropriate educational materials, programs and resource directories to enhance access to these important preventative services.

• Increasing Access to Care for Newborn-Screened Children with Fatty Acid Oxidation Disorders (FAODs).

  This project conducted by Susan Waisbren of Children's Hospital Boston demonstrated a method for developmental and neuropsychological screening for children with FAODs detected by newborn screening, describe the developmental course of children with these disorders, and disseminated information learned about the screening method and likely outcomes.

  An Educator's Guide to MCADD  was one result of this project.

• Implementation of the New England Birth Defects Consortium

  This project headed up by Stephanie Miller of Dartmouth College is the development and enhancement of regional collaboration in: surveillance data sharing, birth defects research, prevention activities and health care quality improvement. The project is in its second year of funding from the NEGC. During the first year, agreement from all New England states to join the consortium was secured. Members collaborated to develop a mission and an identity. A website was developed and launched. During this second year of funding, the Consortium will work to expand membership, enhance the website, implement routine data sharing and work towards sustainability.

• Integrative Community –Based Management for Adults with Sickle Cell Disease

  This is a two-phase project conducted by Victoria Odesina from University of Connecticut Health Center. Year One is focusing on a research design and refinement to track the outcomes of a community-based health management team approach. Although there are no guarantees of Year Two funding, the second year would be the implementation and analysis of the research. The overall goal is for the Sickle Cell Community-Based Organization to collaborate with a community-based nursing organization to initiate, appraise and co-develop individual health plans for adults with Sickle Cell Disease in Connecticut with a focus on health promotion, access to community resources, insurance issues, prevention of secondary conditions and improvements of quality of life.
  
  

2009-2010 Innovative Projects

• Developing Parent-Provider Partnership Plans for Children Referred to Specialty Care

  This project was submitted by Dr. Chris Stille of the University of Massachusetts Medical School. During this grant year, work was done to further develop and pilot test a care planning tool. This tool was based on the Medical Home model of care, to increase parents’ capability to share medical information and plan care with primary care physicians and specialists. This project collaborated with the Medical Home work group.

• Development and Initiation of a New England Birth Defects Consortium

  This project was submitted by Stephanie Miller of Dartmouth Medical School. During the grant year, this project was able to establish a regional consortium to facilitate project and data collection coordination among New England birth defect registry programs. The aim of the consortium is to improve services for infants and children with birth defects by promoting regional collaboration in surveillance data sharing, birth defects research, prevention activities and health care quality improvement. The consortium is linked to the NEGC.

• The Personal Transition Health Plan Project

  This project was submitted by Dr. Susan Waisbren, Children’s Hospital, Boston. The long-term goal of this project is to develop and pilot a practice model that ensures that every adolescent and young adult patient seen at a genetics or metabolic clinic has thought about and documented a plan for on-going health care that addresses the specific needs of his or her specific condition, with a focus on symptoms that are relevant to adults. This project collaborated with the NEGC Transition and Medical Home work groups.

2008-2009 Innovative Project Awards

• Metabolic Outreach Service: Parent-as-Teachers Project

  Mark Korson, MD, Director of the Metabolism Service at Tufts Medical Center was the Principal Investigator on this project. This was the second round of funding for this project.

  Because of Innovative Small Grant funding obtained in the last grant cycle, (March-May 2008), the Patient-As-Teacher Project (PATP), as a part of the Metabolic Outreach Service, has begun to take shape. As a result of this grant opportunity, we were able to accomplish the following goals:
  1. Recruitment of >25 future speakers, either patients or family members, representing a variety of metabolic diseases;
  2. Outreach to >40 disease organizations and foundations to increase further the size and variety of the speaker population, and increase awareness about the PATP;
  3. Onset of training to recruits (unless already seasoned speakers);
  4. Videotaping of one patient presentation at rounds in a teaching hospital.
  
  For this project, Dr. Korson continued and expanded his work with the Patient-as-Teacher Project, in which patients with metabolic disorders and/or family members presented their perspectives on living with the disorder, their diagnostic journey, and their encounters with the health care system. Dr. Korson and staff from the Metabolic Outreach Service assisted patients'/parents' preparations for their presentations. Funds from this project were used to support a project coordinator and for recruiting patients and parents, expanding a registry, training/preparing the speakers as needed, development of a library of presentations, and evaluating the program.

• Making the Move: Mapping Your Best Route to Adult Sickle Cell Care

  This project was conducted by Bill Kubicek of Next Step in Cambridge, Mass. This project—also funded during the first set of Innovative Small Projects—received additional funding to implement a replicable model of educating young adults with Sickle Cell disease about making the transition to the adult health care system. This project focused on engaging young adults in their curriculum, a tool that has been successful in the past for young adults with other diseases/conditions.

• Thyroid Dysfunction: Long-Term Follow-Up of Very Low Birth Weight & Extremely Low Birth Weight Infants

  This project was conducted by Dr. Chanika Phornphutkul of Rhode Island Hospital in Providence, R.I. This project conducted a retrospective review of medical records to determine the incidence of hypothyroidism and transient hypothyroidism in VLBW and ELBW infants. Project findings could ultimately impact newborn screening protocols for these populations.

• Meeting the Challenge of Identifying Urea Cycle disorders of Newborn Screening

  This project was conducted by Dr. Margretta Seashore of Yale School of Medicine in Hartford, Conn. This project conducted a retrospective analysis of the effectiveness of current newborn screening strategies for identifying and treating urea cycle disorders.

• New England Connection for PKU and Allied Disorders Implementation of Strategic Plan

  This project was conducted by Denise Queally and Donna McGrath of the New England Connection for PKU and Allied Disorders (NECPAD) in Milton, Mass. Originally funded during the first set of Innovative Small Projects to provide leadership training to young adults with metabolic disorders, NECPAD was strengthened through the hiring of a consultant to help implement a strategic plan.