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Recurrent Pregnancy Loss Association Awareness. Advocacy. Answers.
Role of Sperm DNA Fragmentation in RPL
Dr. Winifred Mak, MD, PhD, University of Texas
Dr. Mak is an Assistant Professor at Dell Medical School at the University of Texas. She is the director of the Early Pregnancy Loss program at UT Health Austin.
Dr. Mak specializes in understanding oocyte and early embryo biology. Her research focuses on infertility, recurrent pregnancy loss and premature ovarian insufficiency. Her publications have appeared in high-impact journals, and she has received numerous awards at the national and international levels. Dr. Mak's work has been supported by several grants through agencies such as the National Institutes of Health, the American Society for Reproductive Medicine and the Medical Research Council.
Dr. Mak earned her medical degree from the United Medical and Dental Schools of Guy’s and St. Thomas’ Hospitals. She completed a residency in obstetrics and gynecology at Addenbrooke’s Hospital in Cambridge, a second residency in obstetrics and gynecology at Cedars-Sinai Medical Center, and a fellowship in reproductive endocrinology and infertility at the University of Pennsylvania.
Research Gift
$40,000 in 2023
Project Description
There is currently a major knowledge gap in our understanding of the role men and sperm play in recurrent pregnancy loss. Most prior research has focused on the female partner; thus, current diagnostic testing for RPL is mostly female-centered. However, there is growing evidence suggesting a male-factor contribution to recurrent pregnancy loss.
This study aims to identify the types of DNA damage in sperm and how these sperm abnormalities can lead to recurrent pregnancy loss. This could lead to a paradigm shift in the diagnostic work-up of couples to include molecular analysis of sperm.
Inherited Genetic Variants and Unexplained RPL
Dr. Tsegaselassie Workalemahu, PhD, MSc, University of Utah
Dr. Workalemahu is an assistant professor of obstetrics and gynecology in the division of maternal-fetal medicine and an adjunct assistant professor of internal medicine in the division of epidemiology. His research program is investigating the genetic and epigenetic mechanisms related to obstetric complications and their short- and long-term adverse outcomes.
Research Gift
$40,000 in 2022
Project Description
Presently, there are knowledge gaps regarding the causes of pregnancy loss and its recurrence. These knowledge gaps have prompted the use of diagnostic tests and treatments that increase cost, anxiety and even cause harm without clear efficacy.
If the genetic factors that are relevant for pregnancy loss and normal pregnancy are determined, expensive but non-specific, diagnostic evaluations and interventions for couples suffering the loss could be avoided.
This study is aimed at determining specific genetic mutations that cause pregnancy loss by conducting whole genome sequencing analysis of DNA from families who have lost pregnancies.
Understanding the Lived Experience of Pregnancy Loss
Dr. Dana McQueen, RMA Northern California (previously University of Chicago)
Dr. McQueen is a Reproductive Endocrinologist at RMA in San Francisco and a board-certified OB/GYN. She received her bachelor’s degree from the University of California, Berkeley, medical degree from the University of California, Irvine and a master’s in clinical research from the University of California, San Diego. She then completed her residency in Obstetrics and Gynecology at the University of Chicago and fellowship in Reproductive Endocrinology and Infertility at Northwestern University Feinberg School of Medicine. Dr. McQueen received additional subspecialty training in RPL by completing a fellowship in Recurrent Pregnancy Loss at the University of Illinois.
Research Gift
$5,000 in 2021
Project Description
RPLA partnered with Dr. Dana McQueen and her former team at University of Chicago to conduct a series of interviews with people who had experienced multiple pregnancy losses. To prepare for the interviews, participants selected pictures or images that they felt reflected their experience of recurrent pregnancy loss. The images were discussed during the interviews.
The goal was to identify themes consistent across the experience of recurrent miscarriage to help doctors and scientists understand the patient experience and what they can do to better support our community.
Endometrial Causes of Unexplained Pregnancy Loss
Dr. Ruth Lathi, Stanford University School of Medicine
Dr. Ruth Lathi, is a reproductive endocrinologist at the Stanford University School of Medicine. She is a Professor in the Department of Obstetrics and Gynecology, Director of the Multi-specialty Recurrent Pregnancy Loss program, and the Program Director of the REI Fellowship. Dr. Lathi has a special interest in treating recurrent pregnancy loss, the role of preimplantation genetic diagnosis in the treatment of reproductive disorders, and the prognostic value and utility of genetic testing of miscarriage tissues, and long-term outcomes of fertility treatments. (Link)
Research Gift
$8,000 in 2020
Project Description
Endometrial factors contributing to recurrent miscarriage remain poorly defined and represent a promising area of research within the field.
Notch signaling is an evolutionarily conserved pathway that important for cell-to-cell communication. Notch signaling plays a role in tissue homeostasis and repair. Studies in mouse models suggest endometrial Notch signaling through the transcription factor RBPJ facilitates embryo implantation and uterine repair following pregnancy. Small studies in women with unexplained recurrent pregnancy loss revealed decreased expression of RBPJ.
This study aims to determine Notch pathway mRNA and protein expression levels in the decidua of women with and without recurrent miscarriage. This will provide insight as to whether Notch signaling is dysregulated within the endometrium at the time of miscarriage and if it is dysregulated in the setting of recurrent miscarriage.