Trisomy 18 Syndrome

The news that your child has a health issue is unwelcome news to any parent, but the diagnosis of a rare disease brings a unique, complex set of challenges, and initiates a life-long journey of answer-seeking. As I awaited the birth of my son, instead of prepping the nursery, I was instead informed that he was likely to be born with a rare condition that could severely impact his quality of life. An MRI in the first hours of his life had shown he suffered two strokes in utero, and led physicians to a likely diagnosis of Greig syndrome, a rare genetic disease defined by skeletal deficiencies. Having a rare disease, or being the family of a loved one with rare disease, can be a lonely feeling with much uncertainty about the future. There is often little literature on the condition, few advocacy groups, and limited or no treatment options or clinical trials for investigational treatments. But, when examined together, rare disease patients are anything but rare, and they are anything but alone. According to the National Institutes of Health (NIH), 30 million Americans, or 10 percent of the population, have a rare disease. When you look across the globe, 3.5-5.9% of the world’s population, or 263-446 million people, have a rare disease. This Rare Disease Day is an opportunity to raise awareness of the challenges those living with a rare disease face, and why there’s reason to hope, thanks to advances in science that could potentially change the lives of millions of patients. The rare disease gap From diagnosis to treatment, the lifecycle of a rare disease is typically defined by more questions than answers. These questions started before my son was even born. Upon discovering he had extra toes on a late-stage ultrasound along with several abnormalities in his brain, diagnoses of trisomy 18, and rare diseases such as Dandy Walker syndrome and Greig syndrome were being discussed, as my husband and I scrambled to get a clear definition of these conditions and what they would mean for my son’s life – one more devastating than the next. The lack of research in rare disease and variances in symptoms makes it difficult for providers to make an informed diagnosis, which can take years. Even as someone who has spent their career in central nervous system (CNS) disorders, working in close quarters with neurologists and neurosurgeons and well-versed in complex medical speak, I was often at a loss of what the next steps of care held for my son, and I questioned every symptom in those early months of life. Once a diagnosis is made, the assurance of an answer can be short lived – the path toward sustainable disease management and treatment varies widely by disease. There are approximately 7,000 rare diseases, and yet, only 5% have approved drugs. This presents a Catch-22 – the lack of precedent means rare diseases often do not have a clearly defined clinical trial roadmap or established endpoints, making scientific advancements difficult. The inherently small patient populations also make it difficult for researchers to devote resources to and implement a drug development program and conduct clinical trials. When research is pursued, developing rare disease treatments is a challenge due to their complex biology. Without treatment, patients and their families often need to manage these conditions with supportive care, such as a strict diet in the case of metabolic disorders. The hope in mRNA medicine Rare disease is often viewed as a forgotten, nonlucrative area of research. But, when companies put their valuable resources toward researching your disease that seems to only have dead-ends, it can feel like a sigh of relief – someone cares. Even if it doesn’t lead to solutions, knowing someone is trying can make a world of a difference, and ease the heavy uncertainty patients and their families operate under every day. While mRNA became widely known during the pandemic because of its use in Covid-19 vaccines, the technology was investigated as a therapeutic long before then, and has particular potential for rare diseases. mRNA is a molecule that contains instructions that direct the cells to make proteins. Because many rare diseases are caused by a missing or dysfunctional protein, mRNA could help patients with rare metabolic disorders and potentially a variety of these protein and enzyme deficiencies. Now, scientists are investigating mRNA therapeutic candidates, and are seeing promising results to date. One of the biggest benefits to mRNA technology is its flexibility, allowing for slight variations to successfully target adjacent diseases. Advancing the fight against rare disease Despite needing a life-saving shunt to treat hydrocephalus in his first few months of life and multiple orthopedic surgeries in the years to follow, I am grateful that my fifteen-year-old son has largely lived a normal life with only small limitations. He’s one of the lucky ones. There are millions of families just like mine, waiting for the smoke to clear and for long-awaited answers. Pursuing research in rare disease requires researchers to think differently about R&D, commit to a deep understanding of a patient’s lived experience, and build close relationships with the rare disease community. Our family motto is “never give up, never surrender.” Every rare disease patient is a warrior, but the fight doesn’t need to fought alone, and we’re grateful for the dedication to innovative, collaborative research that advances the battle.

By analysing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains. By analysing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains. The team identified six cases of Down syndrome and one case of Edwards syndrome in human populations that were living in Spain, Bulgaria, Finland, and Greece from as long ago as 4,500 years before today. The research indicated that these individuals were buried with care, and often with special grave goods, showing that they were appreciated as members of their ancient societies. The global collaborative study, led by first author Dr Adam "Ben" Rohrlach of the University of Adelaide, and senior author Dr Kay Prüfer of the Max Planck Institute for Evolutionary Anthropology, involved screening DNA from approximately 10,000 ancient and pre-modern humans for evidence of autosomal trisomies, a condition where people carry an extra (third) copy of one of the first 22 chromosomes. "Using a new statistical model, we screened the DNA extracted from human remains from the Mesolithic, Neolithic, Bronze and Iron Ages all the way up to the mid-1800s. We identified six cases of Down syndrome," says Dr Rohrlach, a statistician from the University of Adelaide's School of Mathematical Sciences. "While we expected that people with Down syndrome certainly existed in the past, this is the first time we've been able to reliably detect cases in ancient remains, as they can't be confidently diagnosed by looking at the skeletal remains alone." Down syndrome occurs when an individual carries an extra copy of chromosome 21. The researchers were able to find these six cases using a novel Bayesian approach to accurately and efficiently screen tens of thousands of ancient DNA samples. "The statistical model identifies when an individual has approximately 50 per cent too much DNA that comes from one specific chromosome," says Dr Patxuka de-Miguel-Ibáñez of the University of Alicante, and lead osteologist for the Spanish sites. "We then compared the remains of the individuals with Down syndrome for common skeletal abnormalities such as irregular bone growth, or porosity of the skull bones, which may help to identify future cases of Down syndrome when ancient DNA can't be recovered." The study also uncovered one case of Edwards syndrome, a rare condition caused by three copies of chromosome 18, that comes with far more severe symptoms than Down syndrome. The remains indicated severe abnormalities in bone growth, and an age of death of approximately 40 weeks gestation. All of the cases were detected in perinatal or infant burials, but from different cultures and time periods. "These individuals were buried according to either the standard practices of their time or were in some way treated specially. This indicates that they were acknowledged as members of their community and were not treated differently in death," says Dr Rohrlach. "Interestingly, we discovered the only case of Edwards syndrome, and a noticeable increase in cases of Down syndrome, in individuals from the Early Iron Age in Spain. The remains could not confirm that these babies survived to birth, but they were among the infants buried within homes at the settlement, or within other important buildings," says Professor Roberto Risch, co-author and archaeologist from The Autonomous University of Barcelona. "We don't know why this happened, as most people were cremated during this time, but it appears as if they were purposefully choosing these infants for special burials." The research has been published in the journal Nature Communications and was part of a large collaborative project involving researchers from the University of Adelaide, including Dr Adam "Ben" Rohrlach, Dr Jonathan Tuke and Associate Professor Bastien Llamas, as well as researchers from across the world, including at the Max Planck Institute for Evolutionary Anthropology in Germany where the data was generated.

SAN DIEGO, April 3, 2023 /PRNewswire/ -- Juno Diagnostics™ (JunoDx™), a company focused on bringing vital health information to patients by improving access, affordability, and transparency, today announced that results of its novel methodology for non-invasive prenatal screening (NIPS) tests were published[AC1] by The American Journal of Obstetrics & Gynecology (AJOG). The Company's novel NIPS approach offers a convenient and affordable avenue to access prenatal care for providers and patients, including those located remotely or within medical deserts. According to the researchers, the Juno Hazel™ tests provide a promising solution to ensure all parents-to-be and families have an equal opportunity to access high-quality prenatal information on their own time and terms. "Publication of these results in The American Journal of Obstetrics & Gynecology is an exciting achievement that further validates our mission to disrupt the current NIPS paradigm," said Dirk van den Boom, Founder and Chief Executive Officer of JunoDx™. "This data clearly demonstrates that capillary blood samples - like those used for our Juno Hazel™ and Hazel™ Plus screens - are a promising option for patients and providers, which we believe will ultimately promote convenient and affordable access to non-invasive prenatal screening tests." Dr. Mathias Ehrich, Co-Founder and Chief Medical Officer of JunoDx™, noted, "I want to acknowledge and thank all the participants in this study and our trusted collaborators for their assistance in the data analysis, including Dr. Christopher K. Ellison, Dr. Allison Chia-Yang, and Mr. Don C. Hutchison. These are important findings that will significantly advance the field of NIPS testing and broaden access for more parents around the globe." About the Juno Hazel™ and Hazel™ Plus Screens The Company's novel approach to NIPS eliminates the need for traditional phlebotomy, a significant barrier to NIPS access. Juno Hazel™ screens for common chromosomal aneuploidies (Down syndrome/trisomy 21, trisomy 18, and trisomy 13) and can also report on fetal sex. Juno Hazel™ Plus also screens for common aneuploidies and fetal sex, including additional analysis for sex chromosome aneuploidies. The Company launched Juno Hazel™ in November 2022 and Juno Hazel™ Plus in January 2023. About Juno Diagnostics™ Juno Diagnostics™ is a category-defining health company bringing vital prenatal health information to patients by combining accessibility, affordability, and transparency. The Company has developed a proprietary Sample Collection Kit and Device to facilitate capillary blood-based testing. Its lead product, the Juno Hazel™ screen, is a non-invasive prenatal screening (NIPS) test that utilizes the proprietary Sample Collection Kit and improves access to high-quality screening results without the high cost, long lead times, and phlebotomy requirements of traditional NIPS. For more information, visit and engage with us on LinkedIn. Investor and Media Contact: Amy Conrad Juniper Point [email protected] 858-366-3243 [AC1] Ehrich M, Sagaser KG, Porreco RP, Bellesheim D, Patil AS, Shulman LP, Van den boom D, Capillary blood collection: Exploring a new method to promote NIPS access, American Journal of Obstetrics and Gynecology (2023), doi: . SOURCE Juno Diagnostics