In 2016, a baby girl named Parker was born to Kimberly and Jason Greenberg at New York-Presbyterian/Weill Cornell Medical Center. Parker was a special, healthy, and happy little girl who melted her parents’ hearts. However, Parkers’ parents immediately started noticing that Parker had health and developmental differences. Parker failed her hearing test; she did not make the best eye contact; and she achieved developmental milestones later than expected. After being evaluated by several specialists, Parkers’ parents found out that Parker had a very rare genetic variant (or “typo”). At the time Parker’s diagnosis was confirmed, the medical field had no prior experience with this genetic variant, and the resulting disorder did not have a name.
With no name for their daughter’s condition and no patient support group to turn to, Kimberly and Jason could only wait and hope for more knowledge to develop. Approximately one year later (in 2018), while leading a laboratory staffed by skilled researchers and clinicians at Duke University, Dr. Yong-hui Jiang published the first case study of HIST1H1E syndrome in the United States. Finally, Kimberly, Jason, and all the other parents of similarly affected children had a name for what made their children special. Kimberly reached out to Dr. Jiang to learn more about his findings and to see if he would be continuing his research focused on HIST1H1E syndrome. Happy to help, Dr. Jiang replied. After relocating to Yale University in September 2019, Dr. Jiang’s team started a research project aimed at studying why people with HIST1H1E (H1-4) gene variants have medical and neurodevelopmental symptoms such as autism. Dr. Jiang’s team has generated human induced pluripotent stem cells (IPSCs) from samples obtained from children with HIST1H1E (H1-4) gene variants and mouse models with these gene variants to better understand how these gene variants cause physical and neurodevelopmental phenotypes. Eventually, Dr. Jiang’s goal is to develop a molecular targeted treatment for individuals with HIST1H1E syndrome.
In 2019, Kimberly started the HIST1H1E Genetic Syndrome Research Foundation Inc. which is “a parent-run organization dedicated to furthering research on the HIST1H1E Neurological Disorder Syndrome (HNDS) and providing support and education to the small, but growing community of individuals and families impacted by a HNDS diagnosis”. Through their hard work, perseverance, and love for their kids, Kimberly, Jason, and other parents of similarly affected children were able to gather financial support to give a gift to Dr. Jiang and fund his research focused on better understanding HIST1H1E (H1-4). Attached is a picture of Parker giving this gift to Dr. Jiang.
If you are able, please consider donating to Kimberly and Parker’s foundation. HIST1H1E syndrome is very rare, and only 50 cases have been reported. HIST1H1E syndrome is categorized as an orphan disease. Orphan diseases are disorders that affect populations that are not large enough for grants to be awarded or companies to investigate at a profit. Families such as Parker’s depend on private contributions to learn more about HIST1H1E syndrome.
To make a gift to the HIST1H1E Genetic Syndrome Research Foundation Inc., please Support the HIST1H1E (HNDS) Foundation