Dr. Hamburg studies various aspects of Down syndrome, including the accelerated aging process seen in affected individuals and their increased risk of developing Alzheimer’s disease. His research looks into cognitive abilities, memory performance, and brain activity to better understand the impact of these conditions. Additionally, he studies the safety and efficacy of treatments like ruxolitinib for blood cancer patients, aiming to improve quality of life and outcomes through timely interventions. Notably, he has a keen interest in identifying new biomarkers and indicators that can help manage and monitor the health conditions of individuals with Down syndrome.
Key findings
78.8% of patients treated with ruxolitinib experienced symptom relief, with 39.8% showing improved symptoms after 24 weeks.
Adults with Down syndrome were found to be biologically 18.4 to 19.1 years older than their peers without the condition due to DNA damage linked to the DYRK1A gene.
Regular exercise decreased the risk of cognitive decline in adults with Down syndrome by up to 87% for those engaging in high-intensity exercise.
Frequently asked questions
Does Dr. Hamburg study Down syndrome?
Yes, Dr. Hamburg conducts extensive research on Down syndrome, particularly focusing on cognitive abilities and the risk of Alzheimer’s disease.
What treatments has Dr. Hamburg researched?
He has studied the efficacy of ruxolitinib as a treatment for myelofibrosis, showing significant improvements in patient symptoms and spleen size.
How is Dr. Hamburg's research relevant to patients with heart disease?
His work includes surgical interventions for patients with carcinoid heart disease, demonstrating how timely surgery can greatly improve functional outcomes.
What are some cognitive assessments used in Down syndrome research?
Dr. Hamburg utilizes tools like the Cognitive Scale for Down Syndrome (CS-DS) to detect changes in cognitive abilities over time.
Can physical activity help individuals with Down syndrome?
Yes, Dr. Hamburg’s research indicates that regular physical activity can significantly reduce the risk of cognitive decline in adults with Down syndrome.
Publications in plain English
Complex Tricuspid and Pulmonic Carcinoid Heart Disease With Timely Surgical Repair.
2025
Texas Heart Institute journal
Hollowed J, Woo H, Hamburg S, Ardehali A
Plain English A 63-year-old man with health issues such as high blood pressure and sleep apnea was found to have serious heart problems due to a type of tumor. After surgery to replace two heart valves, he showed significant improvements in how well he could function and his overall quality of life. This is important because it demonstrates that timely surgery can greatly help patients with complex heart issues caused by carcinoid tumors.
Who this helps: Patients with carcinoid heart disease.
Active Inference for Learning and Development in Embodied Neuromorphic Agents.
2024
Entropy (Basel, Switzerland)
Hamburg S, Jimenez Rodriguez A, Htet A, Di Nuovo A
Plain English This study looked at how designing artificial intelligence (AI) can benefit from mimicking human learning and development. Researchers found that using a unified framework called active inference, based on how humans learn, can help create robots that learn and grow over time in a similar way to people. This matter because it can lead to AI systems that are more efficient and effective in real-world applications, potentially improving how we interact with technology.
Who this helps: This benefits developers and researchers working on advanced AI systems.
Exploring semantic verbal fluency patterns and their relationship to age and Alzheimer's disease in adults with Down syndrome.
2023
Alzheimer's & dementia : the journal of the Alzheimer's Association
Mgaieth F, Baksh RA, Startin CM, Hamburg S, Hithersay R +8 more
Plain English This study looked at how well adults with Down syndrome can come up with words, a skill called semantic fluency, and how this is affected by their age and whether they have Alzheimer's disease. The researchers found that, as people aged, their ability to say correct words decreased—those with Alzheimer's showed a sharper decline over two years, and poorer performance was linked to specific blood markers (with scores showing a clear relationship). Understanding these patterns is important because it can help detect early signs of cognitive decline in individuals with Down syndrome, which could lead to better care.
Who this helps: This helps patients with Down syndrome and their medical professionals.
The mismatch negativity as an index of cognitive abilities in adults with Down syndrome.
2023
Cerebral cortex (New York, N.Y. : 1991)
Saini F, Masina F, Wells J, Rosch R, Hamburg S +2 more
Plain English This study looked at how a brain response called mismatch negativity (MMN) relates to memory and cognitive skills in adults with Down syndrome (DS) who do not have Alzheimer's disease. Researchers tested 27 individuals and found that only those under 41 showed significant MMN responses, with weaker MMN linked to lower memory performance and longer response times connected to poorer memory and language skills. Understanding MMN can help in assessing cognitive abilities in people with DS and could be important for detecting early signs of cognitive decline.
Who this helps: This helps patients with Down syndrome and their families.
Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.
2023
EBioMedicine
Murray A, Gough G, Cindrić A, Vučković F, Koschut D +40 more
Plain English This study looked at why people with Down syndrome (DS) seem to age faster than others. Researchers found that adults with DS are, on average, 18.4 to 19.1 years biologically older than their peers without DS, which is tied to increased DNA damage and lower levels of a protein called LaminB1. This accelerated aging is linked to a specific gene, DYRK1A, which appears to be overactive in people with DS and could be a target for new treatments that may help slow down this aging process.
Who this helps: This benefits patients with Down syndrome by identifying potential new therapies to address accelerated aging.
Safety and Efficacy of Ruxolitinib in Patients with Myelofibrosis and Low Platelet Counts (50 - 100 × 10/L): Final Analysis of an Open-Label Phase 2 Study.
2022
Clinical lymphoma, myeloma & leukemia
Talpaz M, Prchal J, Afrin L, Arcasoy M, Hamburg S +4 more
Plain English This study looked at the drug ruxolitinib to see how well it works and how safe it is for patients with myelofibrosis (a type of blood cancer) who also have low platelet counts, specifically between 50 and 100. Out of 66 patients, 52 completed 24 weeks of treatment, with a significant reduction in spleen size (about 20%) and patient-reported symptoms improving by nearly 40%. The study found that those on a higher dose of 10 mg saw even better results in both spleen size and symptoms.
Who this helps: This research benefits patients with myelofibrosis and low platelet counts, giving them a potentially effective treatment option.
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
2021
Molecular psychiatry
Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E +38 more
Plain English This study looked at brain-like cells grown from hair samples of people with Down Syndrome to understand why many of them develop Alzheimer’s disease. Researchers found that 71% of these cell samples showed Alzheimer-like signs, and these signs could be altered by changing a specific gene called BACE2. This matters because it reveals how variations in genes can impact the risk of Alzheimer's, potentially helping some people with Down Syndrome to delay or prevent dementia.
Who this helps: This helps patients with Down Syndrome and their caregivers.
Optimal age and outcome measures for Alzheimer's disease prevention trials in people with Down syndrome.
2021
Alzheimer's & dementia : the journal of the Alzheimer's Association
Hithersay R, Baksh RA, Startin CM, Wijeratne P, Hamburg S +3 more
Plain English The study examined how to better design trials to prevent Alzheimer's disease in people with Down syndrome, who usually show signs of the disease by age 40. Researchers found that 75% of participants showed signs of Alzheimer's at various ages, and using specific cognitive tests, they determined that including 50 to 200 people aged 36 to 45 would allow trials to effectively measure treatment impacts. This information helps improve the way we test new Alzheimer's treatments for individuals with Down syndrome, making the trials more efficient and targeted.
Who this helps: This helps patients with Down syndrome and their families.
The Association between Physical Activity and CAMDEX-DS Changes Prior to the Onset of Alzheimer's Disease in Down Syndrome.
2021
Journal of clinical medicine
Pape SE, Baksh RA, Startin C, Hamburg S, Hithersay R +1 more
Plain English This study looked at how physical activity affects cognitive decline in adults with Down syndrome who are at high risk of developing Alzheimer's disease. It found that those who engaged in regular moderate to high-intensity exercise had a significantly lower risk of losing everyday skills and experiencing declines in personality and behavior—up to an 87% reduced risk for those exercising at high levels. This matters because encouraging physical activity in people with Down syndrome could help delay dementia symptoms and improve their overall quality of life.
Who this helps: This helps individuals with Down syndrome and their caregivers.
Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
2021
Molecular psychiatry
Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E +38 more
Comparison of resting-state EEG between adults with Down syndrome and typically developing controls.
2021
Journal of neurodevelopmental disorders
Hamburg S, Bush D, Strydom A, Startin CM
Plain English This research studied the brain activity of adults with Down syndrome (DS) compared to adults without DS. The researchers found that adults with DS showed a "slower" brainwave pattern, with higher levels of certain brainwave types (delta and theta) and lower levels of others (alpha and beta). Specifically, those with DS had lower alpha power and greater variations in alpha frequency, which may indicate cognitive challenges. Understanding these brainwave differences could help identify signs of cognitive impairment early on, benefiting treatment strategies and support.
Who this helps: This helps patients with Down syndrome and their caregivers.
Health comorbidities and cognitive abilities across the lifespan in Down syndrome.
2020
Journal of neurodevelopmental disorders
Startin CM, D'Souza H, Ball G, Hamburg S, Hithersay R +6 more
Plain English This study looked at people with Down syndrome (DS) to understand how health issues and language skills change as they age. Researchers found that both mental health problems and language abilities vary significantly throughout a person's life; for instance, men with DS had higher rates of schizophrenia and depression compared to women. Importantly, having autism or epilepsy was linked to poorer thinking skills in younger adults, while most other health issues did not seem to affect cognitive abilities.
Who this helps: This research helps doctors and caregivers understand how to better support individuals with Down syndrome based on their unique health and cognitive profiles.
Differential Associations of Apolipoprotein E ε4 Genotype With Attentional Abilities Across the Life Span of Individuals With Down Syndrome.
2020
JAMA network open
D'Souza H, Mason L, Mok KY, Startin CM, Hamburg S +6 more
Plain English This study looked at how a specific gene variant, called APOE ε4, affects attention in people with Down syndrome (DS) at different ages. Researchers found that in young children with DS, those with the APOE ε4 variant showed better attention skills than noncarriers, with a significant difference in attention scores (an advantage of about 100 points). However, for adults, the opposite was true: older adults with the APOE ε4 variant had poorer attention than those without it. This information is important because it sheds light on how this gene impacts cognitive abilities over a person's lifetime, which could help guide future support and treatment for individuals with Down syndrome.
Who this helps: This helps patients with Down syndrome and their caregivers.
Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years.
2019
JAMA neurology
Hithersay R, Startin CM, Hamburg S, Mok KY, Hardy J +4 more
Plain English This study looked at how dementia, specifically Alzheimer's disease, affects death rates in adults over 35 with Down syndrome. It found that 31.3% of the participants had dementia, and those with dementia had a death rate five times higher than those without, with a specifically high risk for those carrying the APOE ε4 gene. This is important because it highlights the need for better health care and monitoring for older adults with Down syndrome, especially for those with dementia and certain health conditions.
Who this helps: This helps patients with Down syndrome, their families, and healthcare providers.
Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome.
2019
Alzheimer's & dementia : the journal of the Alzheimer's Association
Startin CM, Hamburg S, Hithersay R, Al-Janabi T, Mok KY +3 more
Plain English This study looked at how cognitive functions, like memory and attention, change in adults with Down syndrome as they age, especially as they start to show early signs of Alzheimer's disease. Researchers examined 312 adults and found that these cognitive functions are particularly sensitive to early decline. Understanding these changes is crucial because it helps set up clinical trials to test treatments that could slow down the progression of dementia in individuals with Down syndrome.
Who this helps: This information benefits patients with Down syndrome and their caregivers.
Dynamic Causal Modeling of the Relationship between Cognition and Theta-alpha Oscillations in Adults with Down Syndrome.
2019
Cerebral cortex (New York, N.Y. : 1991)
Hamburg S, Rosch R, Startin CM, Friston KJ, Strydom A
Plain English This study looked at how brain activity relates to thinking skills in adults with Down syndrome. Researchers found that people with better cognitive scores (measured by a test called KBIT-2) showed stronger brain signals in certain frequencies (approximately 4-13 Hz) that suggest a healthy balance between brain excitation and inhibition. This is important because understanding these brain mechanisms might help improve cognitive function and address the high risk of dementia in people with Down syndrome.
Who this helps: This helps adults with Down syndrome and their caregivers seeking better cognitive health options.
Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease.
2019
Alzheimer's research & therapy
Startin CM, Ashton NJ, Hamburg S, Hithersay R, Wiseman FK +9 more
Plain English This study looked at blood markers related to brain health in adults with Down syndrome, those with sporadic Alzheimer's disease, and individuals without either condition. Researchers found that levels of certain proteins, like amyloid and tau, were much higher in people with Down syndrome, suggesting they are at greater risk for Alzheimer's-related brain changes. The study highlights that neurofilament light, another protein, could be a useful indicator for tracking Alzheimer’s progression in individuals with Down syndrome.
Who this helps: This helps patients with Down syndrome and their doctors by providing better tools to monitor brain health and dementia risk.
Validating the Cognitive Scale for Down Syndrome (CS-DS) to Detect Longitudinal Cognitive Decline in Adults With Down Syndrome.
2019
Frontiers in psychiatry
Startin CM, Lowe B, Hamburg S, Hithersay R, Strydom A +1 more
Plain English This research focused on a tool called the Cognitive Scale for Down Syndrome (CS-DS), which helps measure everyday thinking skills in adults with Down syndrome (DS). The study tracked 48 adults over approximately 1.5-2 years and found that their overall scores on the CS-DS decreased, with significant drops in scores related to executive functions, indicating cognitive decline. These findings are important because they show that the CS-DS can effectively identify changes in cognitive abilities over time, which is crucial for managing care in adults with DS who may be at risk for dementia.
Who this helps: This helps adults with Down syndrome and their caregivers by providing a way to monitor cognitive health.
Assessing general cognitive and adaptive abilities in adults with Down syndrome: a systematic review.
2019
Journal of neurodevelopmental disorders
Hamburg S, Lowe B, Startin CM, Padilla C, Coppus A +8 more
Plain English This research paper looks at different methods used to measure intelligence and daily living skills in adults with Down syndrome. The review found that 19 studies used a total of 17 different IQ tests, with most tests being used only once, which makes comparing results difficult. It also revealed that using raw scores in these tests might help show changes in cognitive ability more clearly over time, which is important for understanding how adults with Down syndrome are doing.
Who this helps: This benefits researchers and clinicians working with adults who have Down syndrome.
Aging related cognitive changes associated with Alzheimer's disease in Down syndrome.
2018
Annals of clinical and translational neurology
Firth NC, Startin CM, Hithersay R, Hamburg S, Wijeratne PA +5 more
Plain English This study examined how Alzheimer's disease affects cognitive abilities in adults with Down syndrome, analyzing data from 283 participants. The researchers found that memory, attention, and verbal skills declined early in individuals with Down syndrome, similar to patterns seen in Alzheimer's patients without Down syndrome. This is important because it highlights the need for early assessments to better track cognitive decline and improve treatment strategies for Alzheimer's in this group.
Who this helps: This helps patients with Down syndrome and their doctors by providing better tools to monitor and manage cognitive decline related to Alzheimer's disease.
Evaluation of an alternative ruxolitinib dosing regimen in patients with myelofibrosis: an open-label phase 2 study.
2018
Journal of hematology & oncology
Talpaz M, Erickson-Viitanen S, Hou K, Hamburg S, Baer MR
Plain English This study looked at a new way to give the drug ruxolitinib to patients with myelofibrosis, a serious blood disorder. By starting at a lower dose and gradually increasing it, the researchers wanted to see if they could reduce severe side effects, like anemia, while still helping patients with their symptoms. They found that after 24 weeks, 57.8% of patients saw a significant reduction in spleen size, and overall symptoms improved by nearly 46%.
Who this helps: This approach benefits patients with myelofibrosis by potentially reducing side effects while still providing treatment.
Comparison of Receptive Verbal Abilities Assessed Using the KBIT-2 and BPVS3 in Adults With Down Syndrome.
2018
Frontiers in psychology
Startin CM, Hamburg S, Strydom A,
Plain English This study looked at the verbal abilities of 34 adults with Down syndrome using two different tests: the KBIT-2 and the BPVS3. The researchers found a strong relationship between the scores from the two tests, meaning if someone did well on one, they likely did well on the other, despite the KBIT-2 generally scoring higher. Understanding how to compare scores from these tests can help identify factors influencing the cognitive abilities of individuals with Down syndrome.
Who this helps: This research benefits researchers and clinicians working with adults with Down syndrome.
Plain English Researchers studied how cognitive decline and dementia affect older adults with Down syndrome, finding that over 80% of them may develop dementia by age 65 due to a specific genetic factor. This is significant because it highlights the need for clinical trials focused on preventing or delaying dementia in this population, especially since their unique needs complicate the assessment of cognitive changes. Improving methods for tracking these changes and understanding how other health issues are connected can help in developing better treatments.
Who this helps: This helps individuals with Down syndrome and their families.
The relationship between sound-shape matching and cognitive ability in adults with Down syndrome.
2017
Multisensory research
Hamburg S, Startin CM, Strydom A
Plain English This study looked at how well young adults with Down syndrome (DS) can match sounds to shapes, which reflects their ability to integrate different types of sensory information. The researchers found that those who performed better on the sound-shape task, answering correctly 72.5% of the time, also had higher scores in cognitive and daily living skills compared to those who struggled with the task. Specifically, 89.5% of individuals with better cognitive abilities answered correctly, while only 57.1% with lower abilities did, highlighting that difficulty with this task is more common among those with lower cognitive skills.
Who this helps: This research benefits individuals with Down syndrome and the professionals working with them.
Developing an Informant Questionnaire for Cognitive Abilities in Down Syndrome: The Cognitive Scale for Down Syndrome (CS-DS).
2016
PloS one
Startin CM, Rodger E, Fodor-Wynne L, Hamburg S, Strydom A
Plain English This study created a new questionnaire, called the Cognitive Scale for Down Syndrome (CS-DS), to assess everyday cognitive abilities like memory and communication in adults with Down syndrome (DS), regardless of their intellectual level or other challenges. The researchers tested the CS-DS with 128 individuals and found it to be reliable and effective; scores varied widely and showed that older adults with cognitive decline scored significantly lower. This tool is important because it can help track cognitive changes over time and measure the effectiveness of treatments for individuals with DS and potentially others with intellectual disabilities.
Who this helps: This benefits patients with Down syndrome and their healthcare providers.
The LonDownS adult cognitive assessment to study cognitive abilities and decline in Down syndrome.
2016
Wellcome open research
Startin CM, Hamburg S, Hithersay R, Davies A, Rodger E +3 more
Plain English Researchers studied cognitive abilities in adults with Down syndrome (DS) to better understand how factors influence memory, thinking, and motor skills, especially in relation to Alzheimer's disease. They tested 305 participants, finding that while most adults could complete the cognitive tests, about half of those with dementia could not. Notably, younger females (ages 16-35) showed better verbal abilities than their male peers. This research matters because it helps identify how cognitive abilities vary in people with DS, which is important for predicting and managing dementia risk.
Who this helps: This helps patients with Down syndrome and their caregivers.
Phase 1 dose-escalation study of IV ixazomib, an investigational proteasome inhibitor, in patients with relapsed/refractory lymphoma.
2014
Blood cancer journal
Assouline SE, Chang J, Cheson BD, Rifkin R, Hamburg S +7 more
Plain English This study looked at a new cancer treatment called ixazomib, which is given through an IV, for patients with hard-to-treat lymphoma who had previously tried at least two other therapies. Researchers found that 5 out of 26 patients responded positively to the treatment, with specific responses noted in those with follicular lymphoma. The treatment was generally safe, with the highest tolerated dose identified as 2.34 mg/m², and some side effects included fatigue and diarrhea.
Who this helps: This helps patients with relapsed lymphoma looking for new treatment options.
Laparoscopic splenectomy for hairy cell leukemia in pregnancy.
2010
Case reports in medicine
Adeniji BA, Fallas M, Incerpi M, Hamburg S, Katz R +1 more
Plain English This study examines a successful surgical procedure called laparoscopic splenectomy, performed on a pregnant woman with hairy cell leukemia whose spleen was severely enlarged. At the time of the surgery, her hemoglobin level was extremely low at 4.3 mg/dl, and her platelet count was only 18,000/mm³, indicating severe health risks for both her and the baby. The findings suggest that this surgery can be a safe treatment option during pregnancy when other treatments, like chemotherapy, could harm the fetus.
Who this helps: This information benefits pregnant women diagnosed with hairy cell leukemia and their healthcare providers.
Phase II trial of nolatrexed dihydrochloride [Thymitaq, AG 337] in patients with advanced hepatocellular carcinoma.
2007
Investigational new drugs
Jhawer M, Rosen L, Dancey J, Hochster H, Hamburg S +3 more
Plain English This study looked at a drug called nolatrexed to see how well it works and how well patients tolerate it in individuals with advanced liver cancer. Out of 48 patients, only one (about 2.6%) showed a partial improvement, while nearly half (46%) had stable disease for about 93 days on average. The overall survival rate was about 32 weeks, but the treatment caused serious side effects like mouth sores and dehydration in some patients.
Who this helps: This information helps doctors and patients understand that nolatrexed is not a promising option for treating advanced liver cancer.
Phase II multicenter study of induction chemotherapy followed by concurrent efaproxiral (RSR13) and thoracic radiotherapy for patients with locally advanced non-small-cell lung cancer.
2005
Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Choy H, Nabid A, Stea B, Scott C, Roa W +10 more
Plain English This study looked at how well a treatment combining efaproxiral (a drug that helps deliver oxygen) and thoracic radiation therapy works after initial chemotherapy for patients with advanced non-small-cell lung cancer (NSCLC). Out of 51 patients treated, 75% responded positively, with a median survival time of about 20.6 months, which is better compared to alternative treatments. This matters because it offers a new treatment option that not only improves survival rates but also has fewer severe side effects compared to traditional methods.
Who this helps: Patients with locally advanced non-small-cell lung cancer.
Plain English This study looked at how group therapy can help people who have drinking problems learn to drink in moderation. Out of 28 participants, 70% managed to significantly cut down on their alcohol use both right after the program and during a follow-up. The severity of their drinking issues before starting the therapy was a strong indicator of their success in reducing alcohol consumption.
Who this helps: This benefits problem drinkers looking to manage their alcohol intake.
Influence of small increments of epinephrine on glucose tolerance in normal humans.
1980
Annals of internal medicine
Hamburg S, Hendler R, Sherwin RS
Plain English This study looked at how small amounts of epinephrine, a hormone often associated with stress, affect how well healthy people tolerate sugar. Researchers found that after taking epinephrine, participants' blood sugar levels rose significantly higher after consuming glucose compared to those who received a saline solution—by about 30 to 60 mg/dL. This matters because it shows that even small increases in epinephrine can lead to poor sugar tolerance, which may explain why stressed individuals can have trouble managing blood sugar.
Who this helps: This helps patients who experience stress or illness and may have related blood sugar issues.
Behavior theraphy in alcoholism. A critical review of broad-spectrum approaches.
1975
Journal of studies on alcohol
Hamburg S
Plain English This research paper looked at different ways to treat alcoholism using behavior therapy. It found that methods that focus on understanding what specifically leads each person to drink too much are more effective than traditional treatments. For some individuals, aiming for controlled drinking instead of complete abstinence can be a valid goal.
Who this helps: This helps patients struggling with alcoholism.