Congratulations to the four scientists and their teams who recently were  awarded two-year grants by the Clayco Foundation for RVCL research projects. One theme of these new grants is development of model systems that are critical to determining how cells are damaged by RVCL. A model system also will greatly help development and assessment of new RVCL therapeutics. Other studies will use state-of-the-art new eye imaging techniques or will seek to define the mechanisms causing RVCL disease.Studies by these innovative scientists  will significantly expand the investigations into RVCL. The four awardees are:

  • David P.J. Hunt, MRCP, PhD, Professor of Neuroinflammatory Medicine and Chair of Neuroinflammatory Medicine at the University of Edinburgh, Scotland.Dr. Hunt will lead a project to create a human-like model system using a new method called microfluidics. This technology has been called ‘revolutionary’ because of its ability miniaturize and speed up testing systems. Others on the team include  Sarah McGlasson, PhD, a Post-doctoral Fellow, leading microfluidics expert, Wilbur A. Lam, MD/PhD, Associate Professor at Georgia Institute of Technology/Emory University and David Kavanagh, MRCP, PhD, Professor of Complement Therapeutics, Newcastle University & Director National Renal Complement Therapeutics Centre. Drs. Hunt and Kavanagh have been instrumental in studying, treating and collecting research samples from RVCL patients referred by the National UK Clinic
  • Chao Zhou, PhD, Professor of Biomedical Engineering Washington University School of Medicine will lead an effort along with Elena Gracheva, PhD, Research Scientist, to create a RVCL model system using a well-known insect employed in scientific research, Drosophila melanogaster. Because RVCL is a slowly progressing disease that doesn’t manifest until middle age, the “fruit fly” system is an excellent way to model age-related changes as they occur throughout life
  • Rajendra S. Apte, MD, PhD, is a Professor of Opthalmology and Visual Sciences at Washington University School of Medicine. RVCL has devastating effects on eyes, yet this has not been well characterized. Eye specialist, Dr. Apte, is conducting a study to test 50 RVCL patient volunteers with new state-of-the-art noninvasive retinal imaging and visual testing.
  • Nicolas Manel, PhD, Group Leader and INSERM Director of Research, Institut Curie, Paris, France. Dr. Manel is focusing studies on the nucleus of the cell to determine if mutant TREX1 disrupts its normal functioning. Once these “proof-of-concept” studies are completed, Dr. Manel will validate the results in human RVCL cell lines and other models of the disease.

March 1, 2021. Dr. Jonathan MIner was interviewed by RHEUM ADVISER ON AIR in this podcast that discusses RVCL treatment and research: Rarest of Them All

November 6, 2020Dr. Jonathan Miner was interviewed by writer Allison Plitman for The Rheumatologist and speaks about his research into rare diseases, such as RVCL.

Read article here

Bob and Ellen Clark

September  2020. In his blog (Bob Clark Beyond: More than just a blog), Bob Clark describes his extremely personal experience with CRV/RVCL. After losing his wife Ellen to the disease, and to honor her memory, he worked with Maya Lin (the creator of the Vietnam Veteran’s Memorial) to construct the Ellen S. Clark Hope Plaza at Washington University. They wanted to create “a place that would allow visitors who are coming here – many for very difficult medical situation – to be transported to a beautiful place that would give them a sense of comfort, peace and hope.”

The Clayco Foundation also is a major contributor to our RVCL Research and Therapeutics Center.Check out his blog at Bob Clark Beyond

September 2020
With social distancing and other precautions, the 12th Annual Cure CRV Golf Classic was held by the Morey Family and Friends in Bentonville, Arkansas. All proceeds help fund CRV (RVCL) research at Washington University School of Medicine.We thank the Morey family and friends!!

June 19, 2018
Article and Video, click below:
Decades of Study Lead to First Clinical Trial

August 15, 2017
SPOTLIGHT on RVCL and Dr. John Atkinson

The online resource RARE Daily featured an interview with RVCL director, Dr. John Atkinson written by Daniel S. Levine:          RARE Daily Spotlight

Dr. John Atkinson, Director, RVCL Research Center

August 2017
RVCL Center Family Meeting and Videos

We thank everyone who attended our half day family meeting held Saturday August 26, 2017. This educational meeting summarized new research studies, provided updated information about the recently begun clinical therapeutic trial, and offered advice about genetic testing, prenatal diagnosis and alternative reproductive strategies.

You can watch each presentation that was made at the family meeting by clicking the link provided below and choosing each presentation you wish to watch. Here is a summary of the presenters, their topics and approximate length of presentation:

#1  John Atkinson, MD, Professor of Medicine and Director of the RVCL Research Center at Washington University School of Medicine (WUSM) provides a welcome and introduction (25 min)

#2  Andria Ford, MD, MSCI,  Associate Professor in Neurology (WUSM), describes  neuroimaging assessments (20 min)

#3  M. Gilbert Grand, MD, Professor of Ophthalmology describes eye testing and results (24 min)

#4  Kathy Liszewski, Assistant Professor of Medicine and RVCL Research Coordinator (WUMS), provides an update on the Clinical Trials (13 min)

#5  Madonna Bogacki, RVCL Administrator (WUMS), describes how the RVCL clinical trials are paid for and patient financial resources (13 min)

#6  First Question & Answer Session (18 min)

#7  Jonathan Miner, MD,  PhD, Assistant Professor of Medicine (WUSM), summarizes his RVCL research of developing a mouse model of RVCL (17 min)

#8  Nan Yan, PhD, Associate Professor at University of Texas Southwestern Medical Center, describes his RVCL research (18 min)

#9 Sandy Morse, MD, Chief Virology Section, National Institutes of Health, summarizes his RVCL research (8 min)

#10 Stacey Barton, MSW, LCSW, discusses genetic testing (9 min)

#11  Diana Gray, MD, Professor of Obstetrics and Gynecology (WUMS), advises about prenatal screening and diagnosis (17 min)

#12 Emily Jungheim, MD, MSCI, Associate Professor Fertility & Reproductive Medicine (WUSM) describes assisted reproductive technologies (9 min)

#13 Final Question & Answer Period (7 min)

Click below to access videos:

8-26-2017 RVCL Family Meeting Video

December 2016
First clinical trials begun

The first clinical trial utilizing Aclarubicin for treatment of RVCL commenced December 5, 2016 at Washington University School of Medicine. Two patients initially received infusions of Aclarubicin for four consecutive days with blood work and other testing prior to and at the conclusion of the infusion. The study will be conducted for up to two years with patients participating in monthly cycles of five consecutive days per week (Day 1 for testing to verify the patient can participate followed by four days of infusions).

This clinical trial followed nearly a year of preparations including approval by the Food & Drug Administration for our Investigational New Drug application (IND # 131473, approved 8/2/16) entitled, “A Pilot Study of Aclarubicin for the Treatment of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL).”

For more information about the trials, contact Madonna Bogacki at 314-362-8391 or

For more information:  Read about specific goals and protocols here »

January 2016
Robert Clark of Clayco donates to Washington University for study of wife’s fatal disease

January 4, 2016

Robert Clark and his partners at Clayco have pledged $4.1 million to Washington University for research into the rare disease cerebroretinal vasculopathy. Clark’s wife Ellen died five years ago at age 50 from the disease that affects blood vessels in the brain.

Continue reading on the St. Louis Post-Dispatch website »

$4.1 million Clayco Foundation gift aids research into rare disease

January 4, 2016

“This generous gift by longtime supporter Bob Clark officially establishes Washington University as the world’s leader in CRV research and related diseases,” said David H. Perlmutter, MD, the School of Medicine’s new dean and executive vice chancellor for medical affairs.

Continue reading on the School of Medicine website »

Doctor researches rare diseases


John P. Atkinson, MD, is a great detective. But instead of solving murder mysteries, he unravels the mysteries behind diseases—diagnosing them, understanding their origin or cause, and identifying effective treatments.

Continue reading on The Rheumatologist website »

Caregiver inspires crusade: Patient spearheads fundraising efforts for research into rare disease

February 2011

For 20 years, Kim Morey wondered and worried if she had inherited the devastating disease that killed her father at age 49. But she continued with her life, getting married and having three children, in her hometown of Bentonville, Ark.

Continue reading in Outlook Magazine »

Feature photo: In RVCL, blood vessels deteriorate. As seen in this picture of the retina of an RVCL patient, white areas show normal blood vessel growth, while the darkened area shows where blood vessels have “dropped out.”