{"id":65772,"date":"2026-02-12T11:31:58","date_gmt":"2026-02-12T16:31:58","guid":{"rendered":"https:\/\/alumni.cornell.edu\/cornellians\/?p=65772"},"modified":"2026-02-12T12:19:33","modified_gmt":"2026-02-12T17:19:33","slug":"margrill-renu-syndrome","status":"publish","type":"post","link":"https:\/\/alumni.cornell.edu\/cornellians\/margrill-renu-syndrome\/","title":{"rendered":"Sisters Team Up to Raise Awareness of a Rare Genetic Syndrome"},"content":{"rendered":"\n

After years of medical struggles, Jessica Margrill \u201901 finally got a diagnosis for her son; now, she and Heather \u201905 are helping others<\/p>\n\n\n\n

\u201cBear Hugs\u201d celebrates heartwarming stories of Cornellians on the Hill and around the world. Have an idea? Email us at cornellians@cornell.edu<\/strong><\/a>!<\/em><\/p>\n\n\n\n

By Melissa Newcomb<\/strong><\/p>\n\n\n\n

Nearly a decade and a half ago, Jessica Margrill \u201901 was still pregnant with her son when the baby was diagnosed with multiple medical conditions: first clubfoot, then brain abnormalities. After Devon was born, issues continued to arise\u2014though their underlying cause remained a mystery.<\/p>\n\n\n\n

\u201cI was getting every genetic test available, and everything kept coming back normal,\u201d she says.<\/p>\n\n\n\n

\u201cHe had feeding and growth problems; he wasn\u2019t hitting milestones like learning how to walk; he had terrible osteoporosis and his bones would break easily. I knew there was something more at play\u2014but I\u2019d drag him to doctors and hospitals, and nobody could give me an answer.\u201d<\/p>\n\n\n\n

\n

I knew there was something more at play\u2014but I\u2019d drag him to doctors and hospitals, and nobody could give me an answer.<\/p>\nJessica Margrill \u201901<\/strong><\/cite><\/blockquote>\n\n\n\n

Jessica\u2019s sister, Heather Margrill \u201905, accompanied her and Devon to many of the appointments, nearly all of which ended in frustration. <\/p>\n\n\n\n

He was eventually enrolled in two studies for undiagnosed patients. And in April 2024\u2014as it happens, during the solar eclipse\u2014the family finally got an answer.<\/p>\n\n\n\n

Devon had a rare, newly discovered genetic condition\u2014one caused by an insertion in the RNU4-2 gene that had previously been considered mere “junk DNA” with no biological function.<\/p>\n\n\n\n

\"Devon
Devon with his younger sister, Violet.<\/figcaption><\/figure>\n\n\n\n

That condition\u2014which covers a constellation of issues that were previously unexplained, and is now estimated to impact more than 100,000 people worldwide\u2014would eventually be called ReNU syndrome. <\/p>\n\n\n\n

The name derives not only from the gene in question, but from a sense that its discovery could “renew” hope for the futures of affected families and for genetic science more broadly.<\/p>\n\n\n\n

The name “ReNU syndrome” derives not only from the gene in question, but from a sense that its discovery could \u201crenew\u201d hope for the futures of affected families and for genetic science more broadly.<\/p><\/blockquote><\/figure>\n\n\n\n

In fall 2024, Jessica and Heather\u2014both former communication majors in CALS\u2014teamed up with several other parents to co-found ReNU Syndrome United<\/a>.<\/p>\n\n\n\n

The nonprofit raises funds, advances research, spreads awareness of the diagnosis, and helps unite those impacted by it around the globe, both virtually and in person.<\/p>\n\n\n\n

\"Heather
At Heather’s Commencement.<\/figcaption><\/figure>\n\n\n\n

The families also created a private Facebook group to stay connected\u2014and more and more people joined. That group now has more than 600 members, and continues to grow as other children and adults are diagnosed.<\/p>\n\n\n\n

A registry map on the ReNU Syndrome United website has received submissions of diagnoses from more than 30 countries, and the syndrome has been covered in major media, including the Washington Post<\/em><\/a> and the UK\u2019s Sunday Times<\/em><\/a>.<\/p>\n\n\n\n

A registry map on the ReNU Syndrome United website has received submissions of diagnoses from more than 30 countries.<\/p><\/blockquote><\/figure>\n\n\n\n

\u201cThere\u2019s no reason for people to be in the dark anymore,\u201d says Heather, who has a career in pharmaceutical marketing. \u201cWe want to spread the word that those who are still undiagnosed can request whole genome sequencing testing. If this testing exists, why should another family have to go through those years of not finding any information?\u201d<\/p>\n\n\n\n

Although there is currently no cure for ReNU syndrome, the sisters say, researchers believe it may be treatable, due to its basis in just 13 of the 3 billion DNA base-pairs.<\/p>\n\n\n\n

<\/p>\n\n\n\n

<\/p>\n\n\n\n

\"Jessica
Jessica at the Long Island Children’s Museum, which featured ReNU in its \u201cVisibility in Disability\u201d exhibit.<\/figcaption><\/figure>
\n

In July 2025, ReNU Syndrome United hosted a conference on Long Island that drew more than 200 attendees from 10 countries, including members of the research teams that identified the syndrome.<\/p>\n\n\n\n

\u201cFor all these parents who were walking alone for all these years, questioning how their child could be the only one on Earth to have this condition,\u201d says Jessica, \u201cthis diagnosis has illuminated their journey, and allows us to work together to light the way for others.\u201d<\/p>\n\n\n\n

Now 14, Devon is nonverbal and legally blind, and has mobility issues\u2014all common symptoms of the syndrome.<\/p>\n\n\n\n

<\/p>\n\n\n\n

<\/p>\n\n\n\n

<\/p>\n<\/div><\/div>\n\n\n\n

But he also loves to communicate with his iPad, splash in water, clap his hands, and dance\u2014other traits for which children with ReNU are known.<\/p>\n\n\n\n

\u201cHe has overcome so many surgeries and medical procedures in his short life, but Devon and others like him have so much personality, love, and affection,” Jessica says. <\/p>\n\n\n\n

“We strive to find those still undiagnosed, spread awareness, and work with scientists to understand and treat this disorder\u2014to ‘ReNU hope’ for all who are affected.”<\/p>\n\n\n\n

Top: Heather (left) and Jessica <\/em>Margrill at a conference their organization hosted on ReNU syndrome in summer 2025. (All photos provided) <\/em><\/p>\n\n\n\n

Published February 12, 2026<\/p>\n\n\n\n

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