On Monday, April 22nd at 3pm ET, we hosted a special webinar with NephCure highlighting the latest in nephrotic syndrome research and kidney genomics!

Join Dr. Matthew Sampson, a Pediatric Nephrologist at Boston Children's Hospital and Harvard Medical School, as he shares insights from his work in the field, discoveries, and collaborative efforts aimed at improving care for patients and families affected by rare kidney disease.

Don’t miss this opportunity to delve into the world of kidney genomics and nephrotic syndrome research.

We're seeking a motivated Computational Biologist to contribute to groundbreaking research in the Sampson Lab. As part of our team, you'll focus on uncovering the molecular basis of nephrotic syndrome through human genomics, aiming to inform mechanisms, treatments, and cures for this disease. You'll collaborate with a diverse group of experts in nephrology, genetics, and bioinformatics to analyze genomic data, drive research projects, and support the broader goals of the lab.

If you're passionate about making a difference in rare disease research and possess a strong background in genetics, bioinformatics, or related fields, we want to hear from you!

We’re excited to share an open Post-doctoral Research Fellow position to study the genomics of nephrotic syndrome at Boston Children’s Hospital and Harvard Medical School. We’re interested in genomic discovery and its translation to genomic medicine in kidney diseases. If you're interested in immunosuppressive sensitive NS, APOL1 kidney disease, or Biobank-driven genomic discovery for nephrotic syndrome, we encourage you to reach out.

Post-doctoral Research Fellow – Sampson Lab Division of Nephrology, Boston Children’s Hospital & Harvard Medical School The focus of the Sampson Lab at Boston Children’s Hospital, Harvard Medical School is to discover the molecular basis of nephrotic syndrome through human genomics to inform mechanisms, treatments, and cures for this disease. We integrate genomics data with other molecular and clinical datasets to discover the biological and clinical impact of the disease-associated genomic variants we discover. We also focus on using large Biobanks to empower genomic discovery for NS. Finally, we are also using new technologies and developing analytic strategies to make definitive genomic diagnoses for patients. We now seek an intellectually curious and independent thinking post-doctoral fellow to drive forward projects in one or more of these broad research areas.

Specific projects available include:

• GWAS and blood and kidney eQTL/pQTL studies of immunosuppressive sensitive NS

• Genomic and single cell multiomic analysis of APOL1 mediated kidney disease

• Transcriptome-driven genetic diagnosis of nephrotic syndrome

• Nephrotic syndrome discovery using population- and hospital-based Biobanks

Postdoctoral Research Fellow in Computational Genomics and Genetics Full-time postdoctoral positions are available in Dongwon Lee’s laboratory. We study disease-associated genetic variants using computational approaches with a particular focus on transcriptional regulatory mechanisms. We have developed several machine-learning methods for the analysis of regulatory elements and regulatory variants (Lee et al., Nature Genetics 2015; Lee, Bioinformatics 2016; Lee et al., Genome Research 2018; Han et al., PNAS 2022). Projects will include the development of computational methods to model regulatory control of human disease by incorporating improved machine-learning/deep-learning algorithms and single-cell multi-omics data (genomic, transcriptomic, and epigenomic). There will also be ample opportunity to collaborate with clinicians and wet-lab biologists to apply our methods to clinical genetic and genomic data and to validate our computational predictions in model systems.

1. The applicant should have a Ph.D. degree in computational biology, bioinformatics, bioengineering, biostatistics, computer science, or other related fields.

2. Strong programming skills in Python, R, C/C++, or equivalent are required.

3. Experience with Unix/Linux and working with large genetic and genomic data in a high-performance cluster computing environment is highly preferred.

4. Excellent written and verbal communication skills and a willingness to write grant proposals and manuscripts are necessary.

Interested candidates should send a CV including three references, a cover letter, and representative papers (up to two) to: dongwon.lee@childrens.harvard.edu

Welcome Jeerthi Kannan and Junmo Sung to our team!

Jeerthi, a Research Assistant, brings her expertise in computational methods for data analysis and visualization to the Dongwon Lee Lab. Hailing from Tennessee, she earned her Bachelor's in Computational Biology from the University of Rochester and a Master's in Computer Science from Vanderbilt University.

Junmo, a Data Analyst, explores genomics and transcriptomics of kidney disease in the Ana Onuchic-Whitford Lab. With a Master's in Biomolecular Engineering and Bioinformatics from UC Santa Cruz and a Bachelor's in Genetic Engineering from Kyunghee University, Junmo enriches our team with his diverse academic background.

We're thrilled to have both Jeerthi and Junmo contribute their skills to advance our nephrotic syndrome research!

On Thursday, October 19th, we hosted a special live Q&A with NephCure to showcase Dongwon Lee PhD, Assistant Professor of Pediatrics at Harvard Medical School and Principal Investigator of the Dongwon Lee Lab at Boston Children's Hospital and his work with the Sampson Lab for Kidney Genomics.

Dongwon is a computational biologist and human geneticist with expertise in machine learning. The Lee and Sampson Lab’s research uses genomics to better understand, treat, and ultimately cure nephrotic syndrome. Through genomics, researchers can decode the genetic instructions within our cells, pinpointing the specific changes that lead to disease. Eventually, it may allow us to develop targeted treatments tailored to the genetic causes of each patient’s condition.

In partnership between NephCure and Sampson Lab for Kidney Genomics, we are building a collaborative effort to highlight important research and resources to assist rare kidney disease patients on their journey.

We are so excited to introduce our Summer Research Assistant, Parsa Seyfourian. He recently graduated from the University of British Columbia where he worked on identifying the behavioural dynamics of mosquito larvae. “These diseases still present significant gaps in our scientific understanding of them, and our clinical understanding of properly diagnosing, treating, and managing individuals who might possess these diseases,” said Parsa. He will be working in the dry lab this summer using computational tools to make discoveries in nephrotic syndrome research.

Are you passionate about pediatric nephrology and eager to contribute to groundbreaking research? We have an incredible opportunity for you! Our lab is seeking a dedicated and enthusiastic Clinical Research Specialist to join our team for the Biobank to Illuminate the Genomic basis of Kidney Disorders (BIGKiDs) study. This is a chance to make a significant impact in the lives of children with kidney diseases and contribute to advancing medical knowledge in the field.

As a Clinical Research Specialist your responsibilities will include:

• Assists Principal Investigators (PIs) in planning and implementing clinical research studies as assigned. Under the direction of the PI coordinates preparation of protocol applications for submission to the IRB, sponsor or regulatory authority. As directed by the PI corresponds with the IRB, study sponsors, clinical research organizations, study participants and referring physicians.

• Recruits study participants for enrollment in clinical trials. Follows individual study protocols. Completes informed consent procedures as assigned. Organizes strategies for recruiting study participants, screens study participants for eligibility on the telephone, in the clinic and other settings as required. Completes follow up with study participants in prescribed settings as required.

• Organizes study procedures and schedules study participants for study visits. Assists the PI during patient visits. Performs study procedures designated for the Study Coordinator.

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We excited to share our work "Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome" has been published in Nature Communications. The study aimed to learn more about the genetic causes of pediatric steroid-sensitive nephrotic syndrome (pSSNS). Researchers analyzed the genes of over 38,000 people, including 2,440 with the disease, and identified 12 genetic factors that contribute to the disease. These discoveries help expand our knowledge of the disease and contribute to understanding the underlying mechanisms of pSSNS.

We're thrilled to announce our newest publication on "Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs" has been released in Nature Communications. Our study aimed to uncover how specific genes are regulated in the kidney by identifying genomic variants that influence their expression, referred to as expression quantitative trait loci (eQTLs). Using samples from human kidney biopsies, we discovered 5371 GLOM and 9787 TUBE genes with at least one variant significantly associated with expression.

Overall, this study highlights the value of tissue-specific eQTL maps and open chromatin data for analyses, which enhances our understanding of kidney function.

We're headed to the National Kidney Foundation Clinicals in Austin, Texas where Michelle McNulty, MS will be speaking alongside Drs. Rasheed Gbadegesin and Jeffrey Kopp about "APOL1 Mediated Kidney Disease: What Does the Future Hold"? The session is happening over lunch on April 13 at 12 pm in Ballroom A, Austin Convention Center.

Can't make it in person? Tune into the #NKFClinicals livestream.

About the session:

APOL1-mediated kidney disease (AMKD) is a kidney disorder caused by certain apolipoprotein L1 (APOL1) genetic mutations. This genetic disease can lead to renal cell injury and damage to the glomeruli, resulting in proteinuria and progression to end stage kidney disease. This program will address APOL1 epidemiology and potential mechanisms of AMKD, as well as implications of genetic ancestry and approaches to testing, followed by a discussion of current and emerging therapies for AMKD.

Full-time postdoctoral research fellow positions are available in Dongwon Lee’s Laboratory. We study disease-associated genetic variants using computational approaches with a specific focus on transcriptional regulatory mechanisms. We have developed several machine-learning methods for the analysis of regulatory elements and regulatory variants (Lee et al., Nature Genetics 2015; Lee, Bioinformatics 2016; Lee et al., Genome Research 2018; Han et al., PNAS 2022). Our laboratory will continue to develop computational methods to model regulatory control of human diseases by incorporating improved machine-learning algorithms and single-cell multi-omic data (genomic, transcriptomic, and epigenomic.) New computational frameworks will help discover the molecular mechanisms driving the development and progression of human diseases.

• The ideal applicant should have received a Ph.D. degree within 12 months or expect to do so within the following 12 months in computational biology, bioinformatics, bioengineering, biostatistics, computer science, or other related fields.

• Strong programming skills in Python, C/C++, R, or equivalent are required.

• Experience with Unix/Linux and working with large genetic and genomic data in a cluster-computing environment is highly preferred.

• Excellent written and verbal communication skills and a willingness to write grant proposals and manuscripts are necessary.

Interested candidates should send a CV and a cover letter to: dongwon.lee@childrens.harvard.edu

We’re excited to share this Research Assistant position working under Principal Investigator Ana Onuchic-Whitford at Brigham and Women’s Hospital and affiliated with Harvard Medical School, Boston Children’s Hospital, and the Kidney Disease Initiative of the Broad Institute of MIT and Harvard.

The lab studies disease-associated genetic variants using computational approaches with a specific focus on transcriptomics, genetic regulatory mechanisms and glomerular kidney diseases (nephrotic syndrome, proteinuria). We are optimizing a computational pipeline to evaluate allele-specific transcriptomic regulation in kidney disease, by integrating multi-omics data (genomic, transcriptomic, and epigenomic).

On February 28th, our lab lit up in green, blue, pink, and purple in solidarity and support for those affected by rare diseases. Rare Disease Day leads the efforts in raising awareness and generating change for the 300 million people living with a rare disease worldwide.

As a lab that studies pediatric nephrotic syndrome, a rare kidney disease, we believe in creating equitable access to healthcare. We hope our work inspires the next generation of researchers to study and make discoveries of the treatments and even cures of rare diseases.

Congratulations to Dr. AC Gomez for being selected as a 2023 Nephrology Social Media Collective (NSMC) Intern! NSMC seeks to “cultivate leaders in medicine by instilling confidence, knowledge, competence, and professionalism in the use of social media.”

Twitter is currently the best space for scientists and medical professionals to share ideas and experiences, which could then lead to collaboration efforts and advancing understanding of medical-related subjects.

We're closing another year of outstanding accomplishments and challenges overcome with the help of our amazing team. We can't wait to continue our work on nephrotic syndrome in 2023 and in many more years to come.

Thank you all for your support. We are appreciative of each and every one of you.

It’s always the perfect season to welcome new members into our lab. We’re excited to introduce you to Kaylia Reynolds, MS, a Computational Biologist. Kaylia will be contributing to our kidneyomics efforts in the dry lab. Kaylia is passionate about research that combines genetics, statistics, programming, and molecular biology and additionally, whose outcomes may improve the lives of children. We’re so thankful to have Kaylia as part of our team and are looking forward working together!

This November our team went to the American Society of Nephrology’s (ASN) Annual Kidney Week! We had a great time connecting with kidney professionals from all over the world. Our lab values data sharing and exchanging knowledge that drives forward discoveries in research. Therefore, we want to continue the momentum by sharing our ASN abstracts and posters on our website.

We couldn't think of a better way to start off our week than a celebration. Congratulations to Ana Onuchic-Whitford for receiving the Brigham and Women’s Hospital Department of Medicine 2023 Hearst Young Investigator Award for her research studying the genetics and genomics of nephrotic syndrome and other kidney diseases.

Last week at American Society of Nephrology (ASN) Kidney Week, China Nagano MD, PhD presented our findings on A Multi-Population Polygenic Risk Score for Pediatric Steroid Sensitive Nephrotic Syndrome Is Correlated With Disease Age at Onset. “We are excited to have been part of a global collaboration that both discovered new GWAS loci for pSSNS and created a PRS. We look forward to following up on our discovery in multiple ways,” said China in the ASN Press Release. We couldn’t be prouder - way to go China!