Down syndrome is a common chromosomal condition associated with intellectual disability as
well as medical issues ranging from congenital heart disease, obstructive sleep apnea, celiac
disease, to endocrinopathies. Endocrine conditions such as thyroid dysfunction, low bone mass,
insulin resistance, diabetes, short stature, infertility, and propensity to be overweight/obese
are much more common than the general population. Understanding about the pathophysiology and management of endocrine disorders can improve health and development as well as life span in individuals with Down syndrome. The most common endocrine conditions affecting this population will be reviewed during this short symposium.

I will discuss our studies on how we develop human induced pluripotent stem cell-based cerebral organoid and cell transplantation models to better understand cellular and molecular mechanisms underlying the abnormal brain development and early-onset Alzheimer’s diseases in Down syndrome.

The Pinter lab studies how altered gene dosage affects aspects of development using stem cell models of Turner (Monosomy X) and Down (Trisomy 21) syndromes. This talk covers recent work in the lab that evaluates how well and accurately a single copy of chromosome 21 can be silenced in stem cells. New approaches to remaining challenges toward this goal will addressed, including which aspects of Down syndrome are reflected in stem-cell derived neurons trisomic for chromosome 21.

This lecture will present progress in understanding the basis for phenotypes that arise due to inheritance of three copies of human chromosome 21. Animal models play a key role in understanding the impact onf mammalian development and function. We will focus on attenuated response to SHH growth factor in trisomic cells and tissues, with an example of a potential drug to normalize peri-natal development of specific brain regions. Assays of cerebellar morphology, learning and memory, and hippocampal electrophysiology will be presented.

All individuals with Trisomy 21 (Ts21) have Down syndrome (DS)-associated skeletal abnormalities beginning in development and continuing through adulthood. As with all Ts21 phenotypes, overexpression of trisomic genes are thought to cause DS skeletal deficits, and DYRK1A, a trisomic gene found in humans with DS and DS mouse models, has been linked to DS skeletal deficits. How and when trisomic Dyrk1a causes DS skeletal deficits is not known, nor do we understand the cellular changes that cause abnormal bone traits. Our data suggest that overexpression of trisomic genes at specific developmental time points leads to a divergence between normal and deficient development at these time points, causing the skeletal deficits observed in DS. The development-gene-trait relationship can also be used to understand other DS phenotypes and may help with the diagnosis and treatment of other traits caused by Ts21.

People with Down syndrome have what we call a "different disease spectrum". This means that compared to the typical population, they are protected from developing some medical conditions, such as most solid tumors, while being strongly predisposed to developing others, such as Alzheimer’s disease and autoimmune disorders. The Crnic Institute's Human Trisome Project™ (HTP) is the first and most in-depth precision medicine approach to understanding these phenomena. The goal of the HTP is to understand how a third copy of chromosome 21 causes a different disease spectrum in people with Down syndrome.  The HTP is a pan-omics cohort study combined with deep clinical metadata. Using samples obtained from the HTP, we are working to define associations between markers of IFN hyperactivity, immune dysregulation, and this different disease spectrum. 

In this talk, Dr. Yang will discuss the cognitive profile of people with Down Syndrome. In particular, she will go over the learning, memory and language abilities in people with Down Syndrome. Dr. Yang will also talk about her own research in spatial cognition in People with Down Syndrome. Basic research in human cognition has important implications for understanding the thoughts and behaviors, designing better intervention and training programs, and promoting optimal development for people with Down Syndrome.

Jamie, the Secretary of Alexander's Angels Youth/Self-Advocate Group, is a smart, affectionate, and witty 18-year graduate from Commack HS where she passed the Algebra Regents in 2017.  Jamie's joys are taking dance class, karate, swimming and playing with the iPad.    

Kyle graduated in 2008 from North Shore HS where he received a Peer Achievement Award from the National Honor Society.  Kyle is President of Alexander's Angels Youth/Self-Advocate Group and a regular panelist of the Up of Down symposium.  Kyle is presently employed part time at The First National Bank of Long Island

Clerical Assistant for the Quality Management Team at Brookhaven National Laboratory in Upton, N.Y.  Katherine takes Hip Hop, Ballet and Lyrical. She also teaches tap and ballet to younger students

Richie is a senior at Deer Park High School and is enjoying his senior year! He is a part of Special Olympics Long Island and is always practicing for his up and coming sports! He is involved with basketball, floor hockey, track and this past summer started golf! Richie is a big Islander and Yankee fan as well as Giants fan too! He enjoys going to sporting events and cheering on his favorite teams! Richie loves to travel, specially his recent trip to Disney! Richie has brought so much joy and happiness to not only his family but to everyone he knows! His family feels blessed to have him in their family and to be able to be a part of the Down Syndrome community!

Received a diploma from Hauppauge HS where he participated on the Varsity basketball and soccer teams and HS track team.  Member of Best Buddies, included since kindergarten.  He works part-time for the L.I. Ducks and, as part of a job training, volunteers at various job sites on Long Island.

Sean McGowan graduated Southside High School in Rockville Center in 2018. He was able to see his dream of becoming an actor come to fruition immediately following. He was cast in a show at NYU where he played the lead role of “Peter” in Peter and the Starcatcher!  He is an avid surfer, loves music, loves to dance, stays fit with his personal trainer and is a great self-advocate!  In addition to attending Camp Anchor every summer, he holds down a part-time job of 12 to 16 hours per week at his local pool while also holding down a job at McDonald’s which he does all year long. He also attends ACDS day hab 4 days a week where he gets to socialize with his friends. His parents feel extremely proud of the wonderful young man he has become! 

Brittany Schiavone is the Founder of Brittany's Baskets of Hope, a 501(c)3 corporation, that makes and delivers celebratory baby baskets to families that have given birth to a baby with Down syndrome. Each basket contains items that celebrates the babies' birth and provides support and resources to the family. Since 2016, Brittany has delivered over 850 baskets in 49 states across the country.  Brittany has been named the 2019 L'Oréal Paris Woman of Worth National Honoree.