Projects

GenoBank: The GenoBank project involves collecting saliva samples from individuals to generate a central research data set which includes general health history, genotype data, and metabolomic data. In the future this de-identified dataset can be requested by researchers looking to delve into large genetic or metabolomic research. 

For more information about processing, raw data analysis, and updates about our GenoBank research, click here.

“Tomorrow’s Cures Today”

An Institutional Review Board responsible for human subjects research at The University of Arizona reviewed this research project and found it to be acceptable, according to applicable state and federal regulations and University policies designed to protect the rights and welfare of participants in research.

Help us discover and develop life-changing medicines.  Help us understand the causes of many different human diseases, especially those that seem to affect different ethnic groups at different rates.  Help us advance science around the world, provide valuable insights to patients and their doctors, and identify new drug targets for development.

New molecular technology now permits DNA sequencing of thousands of individuals quickly and economically.  Whole genome sequence data permits the mining of molecular and clinical information for analysis of medically-relevant conditions.  With proper subject selection one can also analyze the influence of ethnicity on such associations.  Whole genome sequence data can be utilized to identify targets for drug development as well as responses to therapy.  The overall objective of the study is to discover genetic factors that cause or influence a range of human diseases.  This knowledge can advance basic science, provide clinically valuable insights to physicians and patients, and identify novel targets for drug development.  The University of Arizona Biorepository plans to collect, analyze and bank saliva samples from 100,000 ethnically diverse individuals (regardless of age or disease status) to be used for genomic analyses, metabolomics analyses, and microbiome analyses. 

There is no cost to you if you agree to participate.  Once you sign the consent form to be in the study you will be given a barcode to guarantee your anonymity.  You will be asked to provide a small sample of saliva using a kit provided by our collaborating industry partner.  There will not be any risk or discomfort.  We will ask you to complete a very short health history form electronically (on your smart phone).  In total, the procedure should take no more than 10 minutes.

If you agree to participate your saliva will be used to isolate genetic material (DNA and RNA) that will be used for various analyses and biobanking.  Your specimen will be processed and some will be banked at the University of Arizona Biorepository.  We will provide you with information in the form of an ancestry report and a copy of results on 20-25 relevant genetic traits at no cost.  In the future, a copy of your raw data (SNPs) may also become available upon request. No other compensation will be provided.  YOU MAY STOP PARTICIPATION AT ANY TIME BY NOTIFYING HELIX OR THE UNIVERSITY OF ARIZONA BIOREPOSITORY.

The University of Arizona Biorepository has established an online server through our sequencing partner (Helix) where your information will be stored.  If you decide to participate, you will access our website to read and sign an informed consent form.  You then will be asked to complete a short health history form.  Upon completion you will be provided with a free Helix collection kit.  Upon registration and completion of the Helix informed consent, you will be asked to provide saliva and return the kit.  Online FAQs to commonly asked questions will also be available. 

You may also obtain generic, non-individualized information by calling (520) 626-5125 or by emailing davidh@email.arizona.edu

Pregnancy and Epigenetics Study

The overall objective of the study is to elucidate genetic and epigenetic factors that cause or influence the development of disease (e.g., gestational, type I and type II diabetes).  To that end we propose to obtain small samples of umbilical cord blood and maternal blood from women delivering at Banner-University Medical Center-Tucson for banking in our biorepository.  Mothers routinely have venous blood drawn during labor and babies have umbilical cord blood drawn after birth for various clinical purposes.  We “piggy-back” onto these procedures to obtain an additional 2mL of blood from the mothers and 2mL from the delivered cord blood for banking purposes.  The Dept. of OB/GYN at Banner University Medical Center-Tucson in collaboration with the University of Arizona Biorepository will collect and bank such blood samples from ethnically diverse mothers and their newborn infants, regardless of age, or disease status to be used for answering these questions.  Our goal is to analyze the inheritance of epigenetic marks (changes) from mothers in their offspring, with initial analyses focused on diabetic mothers.  We wish to know if we can predict which newborns may be at higher risk for disease development and if it’s possible to intervene before disease onset.  There will be no procedures performed on the babies and there will be no blood sticks performed solely for the purpose of this study on the pregnant mother.

The Cause of Severe Premature Births

Premature birth is the leading cause of morbidity and mortality for children in the United States. Innovation is needed to improve outcomes in premature neonates who often sustain brain injuries as a result of being delivered several months before a term gestation.  We propose to analyze immune and hematopoietic cells, including stem cells, found in the umbilical cord of preterm and term infants for phenotype and function.  Secondly, we plan to utilize growth and differentiation factors to manipulate the differentiation of these cells into the CD14+ (myeloid) pathway as these cells are critical for neurological regeneration.

Patients will be enrolled if a delivery is expected before 32 weeks of gestation. After the delivery, umbilical venous cord blood will be collected from the placenta before it is discarded. The blood will be processed, and the stem cells extracted. Differentiation studies will be performed using colony forming units to examine the differentiation into hematopoietic lineages. Flow cytometry will be used to characterize percentages of immune cells. Growth factors will be supplemented to manipulate cellular differentiation.

Premature birth before 37 weeks of gestation occurs in approximately 12% of deliveries. Although a smaller proportion occur before 32 weeks of gestation, these fetuses are at the highest risk of death or long-term sequelae of prematurity including brain injury and cerebral palsy. Much of the innovation in the last 20 years has focused on either preventing the birth, or in optimizing the fetal condition in utero for premature survival with the addition of maternal steroid injections to promote mature alveolar cell function, and maternal infusion of magnesium to protect against early brain injury. There are currently no post-delivery treatments for the premature neonate that lower their risk for long term morbidity other than supportive measures and treatment of specific illnesses when they occur. The proposed work will develop a potential new avenue for treatment of premature neonates via the infusion of stem cells after injury has occurred.

Premature birth and the short and long-term sequelae are costly. The occurrence is both emotionally and financially exorbitant to the individual and the family. Moreover, the public contributes to shoulder the financial burden of caring for critically ill premature infants and the children and adults with the expensive medical and social needs that they frequently develop. For these reasons therapies that mitigate this risk will provide significant benefits to this important public health measure.

Blood Spot Cards for Quick and Inexpensive ‘Omics’ Analyses

Biobanking is concerned with the collection and (cryo)preservation of biospecimens from patients with various pathological and other conditions.  Analysis of such specimens at the protein, mRNA and DNA levels can provide significant insight to causes and treatments of various diseases though analyses of such ‘omics’ and their relationship to the subject’s medical and health history.  Collection, shipment and processing of such biospecimens can be complicated and expensive, and very difficult to implement in rural areas. 

In the past we have demonstrated that it was possible to use “blood spot cards” (BCS) as a source of patient DNA for genomics analyses.  That is, as little as 50-100ul of blood that had been spotted and dried for an hour on filter paper was amenable to genomics applications.  This process has a cost of $2/subject and requires no special equipment for processing, shipping or preservation. 

Current studies are examining the use of BCS for protein detection (soluble proteins found in plasma and blood) and exome analyses.  If successful, the use of BCS could offer a rapid and inexpensive approach to ‘omics’ analyses of patient biospecimens.