Baker Lab
The Baker Lab is dedicated to studying the genetics of genitourinary congenital conditions, with a primary focus on Prune Belly Syndrome (PBS). PBS is an ultra-rare congenital disorder affecting muscle and connective tissue. It occurs in approximately 1 in 50,000 births, with over 95% of cases affecting males. Tragically, up to 20% of children with PBS do not survive past their second birthday.
This condition is characterized by a triad of clinical findings:
- A lax abdominal wall resulting from absent or insufficient abdominal skeletal muscle.
- A dilated and poorly emptying urinary tract, affecting the bladder, ureters, and kidneys, due to abnormal smooth muscle.
- Undescended testicles in affected males.
Children and adults living with PBS face a range of health challenges, including kidney damage or failure, urine incontinence, recurrent lung infections, chronic constipation, orthopedic (bone and joint) issues, and infertility. Managing this condition requires multiple surgeries and lifelong medical care to enhance appearance, health, and overall quality of life.
The underlying cause of PBS remains incompletely understood. The Baker Lab unites a multidisciplinary team of researchers and healthcare professionals at the forefront of basic-clinical research. Our collective mission is to delve into the genetic foundations of this condition, instilling hope and striving for improved outcomes for affected individuals and their families.
Our Current Projects
Our lab's ongoing research projects include:
| Project | Contributors | Funding |
| PBS Filamin A (Flna) mouse model studies |
Drs. Baker, Amado, and Jackson from Nationwide Children's Hospital, Drs. Ithychanda and Qin from Cleveland Clinic and Dr. Zent from Vanderbilt |
NIH R01 DK127589 |
| Defining the urinary bladder-specific functional enhancer landscape of Myocardin (Myocd) |
Drs. Jackson, McHugh, Baker, Amado, Stanton, and Theisen |
OSU-NCH intramural grant |
| Piezo1 mutations in PBS |
Dr. Syeda from University of Texas Southwestern and Drs. Baker and Amado from Nationwide Children's Hospital |
|
| Genetic basis of PBS and transcriptome studies* |
Drs. Baker and Amado from Nationwide Children's Hospital |
|
| Understanding the physical changes across the lifespan in Prune Belly Syndrome* |
Drs. Lowes, Tulchin-Francis, Amado, and Baker |
|
| Quantifying chest and abdominal abnormalities on imaging studies in PBS* |
Drs. Baker, Amado, McLeod, Parthasarathy, Stacy, Musini, and Adler |
*Currently recruiting prune belly syndrome individuals and families
Featured Publications
- PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome
- Kidney function and transplants in prune belly syndrome: a scoping review
- The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction
- Phenotypic Severity Scoring System and Categorization for Prune Belly Syndrome: Application to a Pilot Cohort of 50 Living Patients
- Copy Number Variations in a Population with Prune Belly Syndrome
- Impact and frequency of extra-genitourinary manifestations of prune belly syndrome
- A homozygous loss-of-function variant in MYH11 in a case with Megacystis-Microcolon-Intestinal-Hypoperistalsis Syndrome
- Genetic Basis of Prune Belly Syndrome: Screening the HNF1b gene
Our Current Lab Funding
- R01DK127589: Prune Belly Syndrome: Mechanisms of Filamin A Mutations. Principal investigator: Baker,L.
- Urology Care Foundation and the American Urological Association (UCF/AUA) Research Scholar grant: Mechanism of interaction of FLNA and MYOCD on smooth muscle development and association with Prune Belly Syndrome. Principal investigator: Amado, N.
- Nationwide/COM Cross-Campus Collaborative Pilot Program (NCH/OSU): Defining the urinary bladder-specific functional enhancer landscape of Myocardin (Myocd). Principal investigator(s): McHugh K and Baker, L.
- NCH-NURAG grant: Whole Exome Sequencing analysis of two multiplex families with lethal cases of Prune Belly Syndrome. Principal investigator(s): Amado, N. and Baker,L.
We Are Actively Recruiting
The Baker Lab is actively recruiting people and families to participate in our Nationwide Children’s Hospital IRB approved research study (Pediatric Genitourinary Blood, Tissue, Urine and DNA Biorepository) that aims to advance our understanding of genetics in various genitourinary conditions, including prune belly syndrome, pediatric kidney stone, cloacal exstrophy and others. While there is no direct benefit to you as a participant, your contribution will advance scientific knowledge and potentially lead to improved prevention, diagnosis, and treatment of the studied condition. Participation in this study is entirely voluntary. You are free to withdraw at any time without any penalty. Before deciding, we encourage you to read the full informed consent document and ask any questions you may have.
If you choose to participate, you will be asked to:
- Provide a sample of your blood and urine for genetic analysis.
- Complete a questionnaire about your medical history, lifestyle, and family health.
If you are interested in participating, please contact our team at PruneBellySyndrome@NationwideChildrens.org for more information.
Your privacy is of utmost importance to us. All data collected will be de-identified, meaning that your personal information will be kept confidential and not linked to your genetic data. We have stringent security measures in place to safeguard your information.
Thank you for your interest and support.
Lab Staff
Linda Baker, MD
Principal Investigator
Linda.Baker1@NationwideChildrens.org
Linda A. Baker, MD is a board-certified pediatric urologist and co-director of the Kidney and Urinary Tract Center at Nationwide Children's Hospital and professor of urology at The Ohio State University. Dr. Baker specializes in complex genitourinary surgical reconstruction and contributes to new discoveries for children with prune belly syndrome; kidney stones, disorders of sexual development; cryptorchidism; testicular torsion; and congenital female vaginal anomalies. She has spearheaded a thriving pediatric urology research program that has been NIH-funded since 2001. With a personalized medicine approach, she recruits individuals affected with genitourinary disorders and uses cutting edge DNA next generation sequencing technologies to discover their causes.
Her service includes numerous ad hoc and standing NIH study sections, Society for Pediatric Urology Research Grants Committee chair, past AUA Practice Guidelines Committee, and past chair of the AUA Research Grants and Investigator Support Committee. She has authored 23 book chapters and over 120 publications, has a medical device patent, has held 32 national/international visiting professorships, and coauthored the 2014 AUA Cryptorchidism Practice Guidelines. As a national leader in corrective vaginal surgery, she has been course director since 2013 for the international live surgery training course webinar, "Vaginoplasty for Birth Defects of Surgical Complications and the Oral Buccal Mucosa Technique." While in Texas, she was a Castle Connolly "Top Doctors” 2014-2021, a Texas Monthly magazine’s “Texas Top Doctors” 2010–2021 and a D Magazine “Best Pediatric Specialists in Dallas” 2004-2021.
Nathalia Amado, PhD
Senior Research Scientist
Nathalia.Amado@NationwideChildrens.org
Born and raised in Rio de Janeiro, Brazil, Nathalia earned her doctorate degree in Molecular and Developmental Biology at the Federal University of Rio de Janeiro and Harvard Medical School. She furthered her research by pursuing postdoctoral training at Boston Children’s Hospital (Harvard Medical School), with a focus on the study of brain and head development as well as Wnt signaling.
Following her postdoctoral training, Dr. Amado joined the Baker Lab in 2019 in Dallas, Texas. Later, she relocated with Dr. Baker to Nationwide Children's Hospital to continue her dedicated research on the genetics of urological congenital conditions.
Karunya Albert, PhD
Postdoctoral Fellow
Karunya.Albert@NationwideChildrens.org
Born and raised in Tamilnadu, India, Dr. Karunya Albert earned her doctorate degree in Molecular Science from National Chiao Tung University, Hsinchu, Taiwan. It was there that she began her postdoctoral research in tumor and microenvironment. Later, she continued her postdoctoral work at The Ohio State University, where she delved into the study of human glioblastoma and their extracellular vesicle (EVs) from brain tissues and biofluids. Currently, Dr. Albert serves as a postdoctoral scientist under the guidance of Dr. Linda Baker. Her research in Dr. Baker's lab revolves around creating induced pluripotent stem cells (iPSCs) and isolating EVs from prune belly syndrome patient samples, aiming to study the mechanism of disease.
Cintia Gomez Limia, PhD
Postdoctoral Fellow
Cintia.Gomez@NationwideChildrens.org
Born in Cordoba, Argentina, Cintia completed her doctorate degree in Oncology at the Brazilian National Cancer Institute (INCA) in Rio de Janeiro, Brazil, and also at the Gustave Roussy Oncology Institute in Paris, France. She has extensively studied the generation of induced pluripotent stem cells (iPSCs) derived from patients with cancers or neuromuscular disorders, use of iPSCs for in vitro modeling of diseases, and cell therapies while at INCA, the Gustave Roussy Institute of Oncology and Nationwide Children's Hospital.
Currently, as a postdoctoral fellow In Dr. Linda Baker's laboratory, Cintia is focusing on patient-derived iPSC generation and prune belly syndrome (PBS) modeling in vitro. Her work aims to understand the biological impact of PBS human gene mutations. Additionally, the project involves editing iPSCs by using CRISPR to study the biological functions of mutations in vitro, and 2D iPSC modeling to generate smooth muscles cells.
Nixon Raj, PhD
Bioinformatic Postdoctoral Fellow
Nixon.Raj@NationwideChildrens.org
Born and raised in Tamilnadu, India, Dr. Nixon Raj earned his doctorate in Computational and Systems Biology from National Yang Ming Chiao Tung University, Taiwan. Dr. Nixon is expert in Biomolecular Dynamics and Bioinformatics. Currently, he serves as a postdoctoral scientist in Dr. Baker's lab, where he focuses on bioinformatics and computational biology projects. His research involves analyzing multi-omics data to understand the underlying genetics of congenital genitourinary conditions and deciphering the functional aspects of proteins involved in these conditions.
Darria Streeter
Senior Research Associate
Darria.Streeter@NationwideChildrens.org
Born and raised in Columbus, Ohio, but Darria is a world traveler at heart. They received their bachelor's degree in Chinese with a minor in Biology from The Ohio State University. In the Baker Lab, Darria focuses on reprogramming fibroblasts from individuals with prune belly syndrome (PBS) into induced pluripotent stem cells (iPSCs) to advance research on PBS and other genitourinary diseases. Looking ahead, they aspire to continue their global adventures and pursue graduate studies in ethnopharmacology, aiming to bridge the gap between traditional and western medicine.
Justin Wobser
Research Associate
Justin.Wobser@NationwideChildrens.org
Justin earned his master's degree in Public Health from Cleveland State University and has aspirations of attending medical school. His expertise lies in caring for and maintaining the Baker Lab mouse colonies, as well as conducting highly technical mouse urinary bladder cystometry measurements to evaluate bladder function. Additionally, he plays a crucial role in organizing the laboratory research efforts at the national Prune Belly Syndrome Network Annual convention held in Columbus, Ohio. Furthermore, Justin is involved in performing cellular function validation experiments for new prune belly syndrome candidate genes.
Kusum Basnet
Research Assistant
Kusum.Basnet@NationwideChildrens.org
Born and raised in Pokhara, Nepal, Kusum graduated from the University of California, Los Angeles with a bachelor's degree in Psychobiology, and a minor in Biomedical Research. In the Baker Lab, she is working on investigating the genetic and cellular mechanisms of prune belly syndrome. She will be starting medical school next year, pursuing her dream of becoming a physician and continuing to integrate research into her medical career.
Hudaa Malik
Research Assistant
Hudaa.Malik@NationwideChildrens.org
Born in Toronto, Canada, Hudaa spent her formative years in Columbus, Ohio. She pursued her undergraduate studies at The Ohio State University, earning a bachelor's degree in Biology. Driven by her passion for research, she joined Dr. Baker’s team, where her primary focus lies in working with extracellular vesicles (EVs) to help understand the mechanism of disease in prune belly syndrome. Hudaa is currently on the path to medical school, aspiring to combine clinical expertise with research endeavors as a future physician researcher.
