{"id":181254,"date":"2025-09-25T17:33:14","date_gmt":"2025-09-25T17:33:14","guid":{"rendered":"https:\/\/www.newsbeep.com\/us\/181254\/"},"modified":"2025-09-25T17:33:14","modified_gmt":"2025-09-25T17:33:14","slug":"discovery-of-rare-genetic-disorder-inspires-advocacy-and-research-efforts","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/us\/181254\/","title":{"rendered":"Discovery of rare genetic disorder inspires advocacy and research efforts"},"content":{"rendered":"

\"ErinErin Eun Young Ahn, Ph.D.In 2016, the rare disease Zhu-Tokita-Takenouchi-Kim, or ZTTK syndrome, was discovered by Erin Eun Young Ahn, Ph.D., a professor in the University of Alabama at Birmingham<\/a> Department of Pathology<\/a>\u2019s Division of Molecular and Cellular Pathology, alongside her research team.<\/p>\n

ZTTK is identified primarily in children and is characterized by intellectual disability, delayed musculoskeletal development and multi-organ anomalies, and is caused by loss of function in the SON gene, which creates a DNA and RNA binding protein that is required for the body to grow and develop naturally.<\/p>\n

Ahn has studied SON since the early 2000s. After the discovery of ZTTK, she co-founded the ZTTK SON-Shine Foundation<\/a> in 2021 to provide a community of support among newly diagnosed patients and their families. Since then, the number of patients diagnosed globally has risen to an estimated 450.<\/p>\n

\u201cMy research is no longer just about cells and molecules,\u201d Ahn said. \u201cIt\u2019s about real people who are waiting for answers.\u201d<\/p>\n

Enter Miles Santulli, a spunky 2-year-old who was diagnosed with ZTTK Syndrome late last year.<\/p>\n

Kim Santulli, Miles\u2019 mother, said, \u201cIn most ways, Miles is a normal toddler. He loves swimming, listening to music and watching Ms. Rachel videos.\u201d<\/p>\n

\"milesMiles SantulliAfter his family noticed several concerning symptoms such as cognitive delays, loss of muscle mass and issues gaining weight, Miles went through multiple genetic panels before receiving his diagnosis.<\/p>\n

\u201cOur geneticist told us Miles had been diagnosed with ZTTK syndrome; but because it\u2019s so rare, most doctors have limited knowledge about the syndrome itself,\u201d Santulli said. \u201cIt was scary having so many questions and so few answers.\u201d<\/p>\n

\u201cI began researching ZTTK and found the ZTTK SON-Shine Foundation immediately. I must have read through the entire website at least 10 times the day of his diagnosis,\u201d Santulli said. \u201cI was still scared but also comforted knowing we weren\u2019t the only ones going through this and that some of the big medical questions we\u2019d had for so long could finally be tied to ZTTK.\u201d<\/p>\n

Santulli did not stop there. She is now an active member of the ZTTK SON-Shine Foundation\u2019s Board of Directors and Caregiver Facebook Group for families caring for children with ZTTK. The foundation, in addition to providing support for families, is now dedicated to improving the lives of individuals with ZTTK by accelerating research to develop accessible and effective treatments and, ultimately, find a cure.<\/p>\n

\u201cFinding the ZTTK SON-Shine Foundation has been the best resource for learning more about Miles\u2019 disorder; but more importantly, it has given us a worldwide community to love and lean on,\u201d Santulli said.<\/p>\n

\"santulliMike, Miles and Kim Santulli Kim and her husband, Mike, will be hosting \u201cWalking for Miles\u201d on Sept. 21 near their home in Prospect, Connecticut. Kim hopes to raise $10,000 from the walk for the ZTTK SON-Shine Foundation to help find a cure for the genetic disorder, which currently has no treatment.<\/p>\n

\u201cMeeting children and young adults affected by ZTTK in person completely changed how I see my work,\u201d Ahn said. \u201cHolding their hands, seeing their bright smiles, and listening to families share their concerns and hopes made everything personal for me.\u201d<\/p>\n

Ahn and Santulli recently met for the first time in person at the inaugural ZTTK Community Conference in Boston, Massachusetts. The conference theme was \u201cUniting Families, Fueling Research\u201d and brought together more than 150 members of the ZTTK community from around the world, marking a historic milestone of connection and hope. Ahn delivered a special lecture designed for families, translating the biology of the SON gene and ZTTK into accessible language.<\/p>\n

\u201cResearch like Dr. Ahn\u2019s is extremely important for patients and their families because we still know so little about ZTTK,\u201d Santulli said. \u201cThe more they learn, the closer we get to real treatments that will make a huge difference in patients\u2019 lives. ZTTK research gives families like ours hope that one day our children will have more treatment options and support. Miles deserves to live his best and most independent life, and I fully believe research like Dr. Ahn\u2019s is the key to a life like that for him.\u201d<\/p>\n

\u201cI do my research so the patients with ZTTK and their families can have the best, happiest, fullest lives,\u201d Ahn said. \u201cThis gives me the strength to keep pushing forward, even when the research gets challenging.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"Erin Eun Young Ahn, Ph.D.In 2016, the rare disease Zhu-Tokita-Takenouchi-Kim, or ZTTK syndrome, was discovered by Erin Eun…\n","protected":false},"author":2,"featured_media":181255,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[50],"tags":[200,79],"class_list":["post-181254","post","type-post","status-publish","format-standard","has-post-thumbnail","category-genetics","tag-genetics","tag-science"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/181254","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/comments?post=181254"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/181254\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media\/181255"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media?parent=181254"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/categories?post=181254"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/tags?post=181254"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}