Autosomal dominant disease

This study tests a 5-week community-based program that teaches protective behavioral strategies to reduce alcohol use in men aged 35–44 with hazardous drinking habits in rural Vietnam. Participants learn to set safe drinking limits, choose nonalcoholic drinks, and plan ahead, wit…

This study tested the safety of combining two drugs, alpelisib and fulvestrant, in 40 men and post-menopausal women with a certain type of advanced breast cancer (HR+, HER2-, with a PIK3CA mutation) that had worsened after hormone therapy. The goal was to track side effects. The …

This large study tested whether evolocumab (Repatha), a cholesterol-lowering injection, could reduce major cardiovascular events like heart attacks, strokes, or death in over 12,000 adults at high risk but without a prior heart attack or stroke. Participants received either evolo…

This study offers ongoing treatment with alectinib or crizotinib to about 200 adults with ALK- or RET-positive cancer who were already benefiting from these drugs in a previous Roche trial. The main goal is to monitor safety and side effects as patients continue therapy after the…

This small pilot study tested the safety and effectiveness of the oral drug sirolimus for reducing nosebleeds in people with hereditary hemorrhagic telangiectasia (HHT). Ten adults with moderate to severe nosebleeds took 2 mg of sirolimus daily for 3 months. Researchers tracked b…

This study tested whether N-acetylcysteine (NAC), an antioxidant drug, can improve motor skills and learning in children with neurofibromatosis type 1 (NF1). Twenty-five children aged 8 to 16 took NAC or a placebo for 8 weeks. The goal was to see if NAC is safe and helps with mov…

This phase 2 trial tested two drugs, selumetinib and sirolimus, in 21 people with advanced malignant peripheral nerve sheath tumors (MPNST), a rare cancer often linked to neurofibromatosis type 1. The goal was to see if the combination could shrink or stabilize tumors. The study …

This Phase 3 trial tested whether lanreotide, a drug that blocks certain growth hormones, can slow the loss of kidney function in people with autosomal dominant polycystic kidney disease (ADPKD). The study included 159 adults with moderate kidney decline. Participants received ei…

This phase 2 trial tested whether adding the drug veliparib to standard chemotherapy (cisplatin) helps people with metastatic triple-negative or BRCA-related breast cancer, including those with brain metastases. The study enrolled 344 participants to see if the combination slows …

This phase 2 trial tested the drug crizotinib in 12 people with neurofibromatosis type 2 (NF2) who had growing tumors in the ear area called vestibular schwannomas. Participants took crizotinib pills daily for up to 12 months. The main goal was to see if the drug could shrink the…

This study tested two ways of delivering synthetic parathyroid hormone (PTH) to people with chronic hypoparathyroidism, a condition where the body doesn't make enough PTH, causing low calcium. Researchers compared using an insulin pump to give steady, small doses versus twice-dai…

This phase 2 trial tested a gel called NFX-179 on skin tumors in 199 adults with neurofibromatosis type 1. Participants applied the gel daily for 26 weeks. The study measured safety and whether tumors shrank in size or height. Results suggest the gel may help reduce tumor volume,…

This study tested a supplement called HOV-12020 (made from palm tocotrienols) in 50 adults aged 45-75 with CADASIL, a rare genetic disease that damages small blood vessels in the brain, leading to strokes and memory loss. The goal was to see if the supplement could reduce worseni…

This study tested a procedure that blocks certain nerves to the heart in 18 people with life-threatening, uncontrollable heart rhythm problems (called electrical storm). The goal was to see if it could reduce dangerous heart episodes and the need for defibrillator shocks. The app…

This phase 2 trial tested the drug sirolimus (rapamycin) in 61 children and young adults with complicated vascular anomalies—abnormal blood vessel growths that can cause pain, bleeding, or organ problems. The goal was to see if sirolimus could safely shrink these anomalies and im…

This study tested a drug called bevacizumab in 25 adults with hereditary hemorrhagic telangiectasia (HHT) who had severe liver issues and high heart output. The goal was to see if the drug could improve heart function and reduce the need for a liver transplant, which requires lif…

This study followed 1802 Japanese patients with autosomal dominant polycystic kidney disease (ADPKD) who were taking tolvaptan in real-world clinics. Researchers tracked safety and how well the drug slowed kidney growth. The goal was to see if tolvaptan works as well outside cont…

This study tested the long-term safety of a drug called LP352 (bexicaserin) in 41 people aged 12 to 65 with severe epilepsy syndromes like Dravet or Lennox-Gastaut. Participants took the drug three times daily for up to 52 weeks. The main goal was to check for side effects, while…

This study tested whether the immunotherapy drug nivolumab, alone or with other drugs, can shrink tumors in people with colon cancer that has returned or spread. It included 385 participants whose tumors had a specific genetic feature called MSI-H or were non-MSI-H. The goal was …

This study tested whether a daily oral pill can safely and temporarily lower sperm counts in healthy men to prevent pregnancy. Ninety-two men took either the experimental drug (DMAU) alone, DMAU plus another hormone (LNG), or a placebo for 12 weeks. The goal was to see if sperm c…

This early-stage trial tested a gene therapy called LX1001 in 15 people with Alzheimer's who have two copies of the APOE4 gene, a high-risk form. The therapy delivers a healthy APOE2 gene to try to change the course of the disease. The main goal was to check safety and side effec…

This study tested a drug called troriluzole in 141 adults with spinocerebellar ataxia, a rare disease that affects balance and coordination. Participants took either the drug or a placebo daily for 8 weeks. The main goal was to see if troriluzole could improve symptoms like walki…

This study tested a drug called MEK162 in 105 children with low-grade gliomas or other tumors that have a specific overactive growth signal. The goal was to find the best dose, check for side effects, and see if the drug could shrink tumors. Children took the drug by mouth twice …

This study tested a pacemaker feature called AutoAdapt that automatically adjusts timing settings to help the heart pump better. It involved 198 people with heart failure who needed a special pacemaker. The goal was to see if this smart feature improves symptoms, reduces hospital…

This study tested whether two wearable devices—the Apple Watch and the Skylab CART-I ring—can accurately detect atrial fibrillation and other irregular heart rhythms compared to the standard 12-lead ECG. Researchers recruited 500 adults from UK cardiology clinics. Each participan…

This study tested a non-invasive mapping system (Cardioinsight®) to help doctors treat heart rhythm disorders. It included 492 patients who needed ablation, pacemaker implantation, or risk assessment for sudden death. The goal was to see if the mapping system improves outcomes co…

This study tested a new ultra-low-dose chest CT technique in 3 children (ages 1-17) with hereditary hemorrhagic telangiectasia (HHT) to see if it could detect abnormal blood vessels in the lungs (PAVMs) using much less radiation than standard CT. The goal was to find the lowest p…

This study tested whether using artificial intelligence (AI) during colonoscopy helps find more polyps in people with Lynch syndrome, a genetic condition that raises colon cancer risk. One hundred participants each had two colonoscopies back-to-back, with the second using either …

This study tested whether an iPhone ECG device (AliveCor) can accurately measure the QT interval of the heart compared to a standard 12-lead ECG. Researchers studied 29 hospitalized patients starting medications that can affect the QT interval. The goal was to see if the iPhone r…

This study tested a new non-invasive tool called ECG-Imaging that uses many electrodes on the body to create a 3D map of the heart's electrical activity. The goal was to see if it can more accurately locate the source of heart rhythm problems compared to a standard ECG. 362 parti…

This study tested a new device called CochSyn that measures brain waves to detect hearing damage. Researchers compared results from 65 adults with and without hearing difficulties. The goal was to see if the device can accurately identify different types of hearing loss and be ea…

This study tested a new MRI contrast agent called RVP-001, made with manganese instead of gadolinium, in 18 adults with known brain lesions (like tumors or multiple sclerosis). The goal was to see if it is safe and can detect lesions as well as current gadolinium-based dyes. Each…

This study is working on a blood test to help diagnose Alzheimer's disease. Researchers are measuring two specific markers in the blood of 200 people—some with Alzheimer's and some healthy—to see if these markers can reliably tell the difference. The goal is to create a simple, n…

This study tested whether infusing mannitol, a sugar alcohol, can help diagnose polyuria-polydipsia syndrome—a condition of excessive thirst and urination. Researchers measured copeptin levels in 42 healthy adults and patients after mannitol or placebo infusion. The goal was to s…

This study looked at whether a device called Nevisense, which measures the electrical properties of moles, can help doctors better assess suspicious moles during routine skin checks. Forty adults with many moles (at least 100) and several large moles took part. The goal is to imp…

This study aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and…

This study tested whether an ultra-low dose chest CT scan can find lung blood vessel malformations in people with hereditary hemorrhagic telangiectasia (HHT) as well as the standard low-dose CT scan, but with much less radiation. 45 HHT patients received both scans, and radiologi…

This pilot study tested a virtual program designed to help older men at high risk for fractures reduce their risk of falls and broken bones. The program included personalized exercise plans delivered through a smartphone app and virtual nutrition counseling. Researchers enrolled …

This study tested two 8-week stress management programs delivered via secure video calls for 196 adolescents aged 12–17 with neurofibromatosis (NF1 or NF2). The goal was to see if these programs could improve emotional, social, and physical quality of life. Both programs taught c…

This study tested whether adding acupuncture to standard care can slow down memory and thinking problems in people with mild Alzheimer's disease. Researchers compared real acupuncture to a fake (sham) procedure in 160 participants to see if the effects were real or just a placebo…

This study looked at whether adding Epidiolex (a CBD-based medicine) to usual treatment can improve seizures, behavior, sleep, and quality of life in people aged 1 to 65 with tuberous sclerosis complex (TSC). 79 participants took the drug and were monitored for changes in symptom…

This study tested whether N-acetylcysteine (NAC), an over-the-counter antioxidant, could improve learning and motor skills in children with neurofibromatosis type 1 (NF1). Five children aged 8 to 16 took NAC or a placebo to see if it helped with movement and attention problems. T…

This study looked at behavior problems in 101 children aged 3 to 6 with tuberous sclerosis complex (TSC). Families completed assessments online, and those with elevated behavior issues were offered a parent-training therapy (PCIT) over the internet. The goal was to help parents m…

This study tested a personalized exercise program for 28 children and young adults with Marfan syndrome, a rare genetic condition affecting the heart, eyes, and bones. The program aimed to improve endurance, muscle strength, and quality of life. Researchers measured changes in fi…

This study tested whether the medication PB can safely reduce excessive urination in people with certain kidney diseases, including inherited nephrogenic diabetes insipidus, lithium-induced diabetes insipidus, and polycystic kidney disease treated with tolvaptan. Researchers meas…

This study tested two stress and symptom management programs for adults with neurofibromatosis (NF1, NF2, or schwannomatosis). The programs were delivered through live videoconferencing over 8 weekly sessions. Researchers measured changes in quality of life and emotional well-bei…

This study tested whether cooling the skin before or during laser and injection treatments for neurofibromatosis type 1 (NF1) skin bumps can reduce pain. Thirteen adults with NF1 received four different treatments (two lasers and two injections) on both cooled and non-cooled skin…

This study looked at whether taking pictures and writing about them can help people with Marfan syndrome express their feelings and improve their sense of well-being. Eight adults with Marfan syndrome took part in photography and writing activities, then shared their experiences …

This study looked at nearly 1,400 people with rare conditions like PPNAD, Carney Complex, and Peutz-Jeghers syndrome. The goal was to find the genetic causes and link them to specific symptoms. Researchers used clinical exams and genetic testing to better understand how these dis…

This study followed 17 adults with neurofibromatosis type 1 (NF1) over two years to learn how their skin tumors (dermal neurofibromas) grow and change. Researchers used special cameras and skin biopsies to measure tumor growth and look for genes that might influence it. The goal …

This study looked at 20 people with CADASIL, a rare genetic disease that damages brain arteries and causes migraines, strokes, and dementia. Researchers used blood tests, skin biopsies, eye exams, and brain scans to learn more about how the disease works. The goal was to better u…

This study investigates how flavored carbonated drinks change saliva flow, composition, and taste perception compared to plain water, carbonated water, or non-carbonated drinks. Healthy adults aged 18-45 who regularly drink carbonated beverages will provide saliva samples after t…

This study looked at people with neurofibromatosis type 1 (NF1) to better understand how harmless tumors (plexiform neurofibromas) turn into a rare cancer called MPNST. Ten participants had MRI, PET scans, and tumor biopsies. Researchers tested whether a special PET scan (FLT PET…

This study looks at people with neurofibromatosis type 1 (NF1) and their families to find out why some have more severe symptoms than others. Researchers will collect medical history, blood samples, and images to study genes and physical traits. The goal is to identify genes that…

This study follows 150 people with bicuspid aortic stenosis—a narrowed heart valve present from birth—who receive a transcatheter aortic valve replacement (TAVI) using the Evolut Pro or Evolut R XL device. Researchers will measure how well the valve works over time, including blo…

This study tested three types of messages to encourage genetic testing in 1,283 people at risk for hereditary breast and ovarian cancer. Participants received an electronic health record message, then a text message, then a doctor's reminder if needed. The goal was to see which a…

This study looks back at 20 years of medical records from 25 people who had a freezing treatment (cryotherapy) for retinal hemangioblastoma, a rare eye tumor often linked to von Hippel-Lindau disease. Researchers want to see how well the treatment controlled the tumors and affect…

This study compared two methods for measuring bioavailable testosterone in the blood: the standard lab test (radioimmunoassay) and a mathematical calculation. Researchers included 270 men and women aged 18 to 90. The goal was to see if the calculation matches the lab test closely…

This study surveyed 231 adults with Lynch syndrome, an inherited condition that raises bowel cancer risk. Researchers wanted to find out how many people follow the UK recommendation of a colonoscopy every two years, and what makes it harder or easier to keep up with these check-u…

This study looked at whether a 3-session peer coaching program over the phone could help young women (ages 21–30) who have a family history of BRCA mutations. The goal was to see if it reduces cancer-related distress and helps them make informed decisions about genetic counseling…

This study tested a special MRI technique called magnetic resonance elastography (MRE) to see if it can detect scarring in transplanted kidneys. Researchers compared MRE results with traditional biopsy samples from 73 kidney transplant patients. The goal was to find a non-invasiv…

This completed study enrolled 377 individuals and families with a high risk of breast or ovarian cancer due to known or suspected genetic factors. Researchers collected medical records, questionnaires, and biological samples to better understand the disease's natural history and …

This study collected information from 733 people with a personal or family history of hereditary stomach cancer. The goal was to better understand how these cancers develop and what genes are involved. Participants provided medical history, blood samples, and genetic testing. The…

This study looked at how well a new heart monitor (Assert-IQ) detects atrial fibrillation (an irregular heartbeat) in people who have had a heart ablation procedure. 151 participants wore the monitor as part of their normal care. Researchers compared the monitor's readings to a s…

This study tested a digital health platform to help people with a hereditary risk of breast and ovarian cancer share their genetic test results with family members. Researchers worked with 128 participants in Switzerland and Korea to see if the tool reduced distress and improved …

This study used computer simulations to compare three types of radiation (photons, protons, and carbon ions) for treating a dangerous heart rhythm called ventricular tachycardia. Researchers created treatment plans for 23 patients who were already scheduled for standard catheter …

This pilot study tested whether a single dose of oral estrogen-progestin can raise oxytocin levels in people with arginine vasopressin deficiency (AVD), a rare condition that also causes low oxytocin. Researchers compared 28 adults—some with AVD and some healthy—to see if oxytoci…

This study looked at whether a special walking test (3D gait analysis) can help identify movement problems in people with rare genetic diseases like Tuberous Sclerosis and STXBP1. About 40 participants aged 6 and older who could walk without help took part. The goal was to see if…

This study tracked 1,826 people who received a small implantable heart monitor (Confirm Rx) to check for irregular heartbeats. Over 12 months, researchers recorded how often the device caused serious problems and how well it worked in daily life. The goal was to see if the monito…

This study looked at whether certain gene variations affect how well a transplanted kidney works over time. Researchers checked 80 kidney transplant recipients for specific gene markers and measured their kidney function for up to three years. The goal was to find clues that coul…

This study followed over 3,400 people with autosomal dominant polycystic kidney disease (ADPKD) to learn how the disease progresses. Researchers measured kidney size, symptoms, quality of life, and healthcare costs. The goal was to identify factors that predict faster disease pro…

This study looked at over 2,200 people with hereditary hemorrhagic telangiectasia (HHT), a rare condition that causes abnormal blood vessels. The goal was to find out what makes some people with HHT more likely to have a brain bleed. Researchers collected health information, bloo…

This completed study brought together men who have had suicidal thoughts to help design suicide prevention tools. Over up to 10 meetings, 13 men gave feedback on tool drafts, focusing on usability, privacy, and support. The goal was to create resources that truly fit their needs.

This study explored how teenagers and their parents react emotionally and mentally when they learn about genetic risks for conditions like hereditary breast cancer, Lynch syndrome, or high cholesterol. Researchers surveyed 162 participants using questionnaires and interviews to m…

This study tested a system that uses car sensors and machine learning to tell if a driver is drunk. 55 volunteers drove a real car after drinking alcohol. The goal was to create an algorithm that can spot impaired driving and warn the driver.

This study looked at how a new drug called VX-407 changes the way birth control pills work in the body. 74 healthy adults took VX-407 along with different types of oral contraceptives. The goal was to see if VX-407 affects the levels of these contraceptives, which is important fo…

This completed study tested whether an online self-guided program could effectively return genetic test results for hereditary breast and ovarian cancer to African American women. Over 900 women from the Black Women's Health Study were offered their results online or by printed m…

This early-stage study tested the safety and how the body handles a new drug called VX-407 in 32 healthy adults. The goal was to check for side effects and measure drug levels in the blood. No treatment benefit was expected, as this study was designed to gather safety information…

This study looked at how standing on a vibrating platform affects spinal reflexes in 15 healthy adults. Participants stood in different positions with or without vibration while researchers measured electrical signals from a leg muscle. The goal was to understand how vibration ch…

This study examined 10 people with autosomal dominant polycystic kidney disease (ADPKD) to see if a specific deletion in the PKD2 gene is shared among families in the Bergamo area. Researchers interviewed participants and built family trees to understand how the gene change affec…

This study followed 60 heart transplant patients for one year to see if levels of a harmless virus called TTV in the blood are linked to infections or organ rejection. Researchers took monthly blood samples alongside routine care. The goal is to find a new way to monitor transpla…

This study looked at how blood flow and brain activity are linked in people with CADASIL, a rare genetic disease that causes small strokes. Researchers used MRI and EEG scans to measure these connections in 60 adults. The goal was to better understand the disease, not to test a n…

This study involved 116 people with Limb Girdle Muscular Dystrophy (LGMD), a group of rare muscle-weakening disorders. Researchers measured how well participants could walk, move their arms, and breathe, and asked about their daily activities and overall health. The goal was to i…

This study looked at whether the ratio of index to ring finger length (2D:4D) is different in women with breast cancer compared to healthy women. Researchers measured the fingers of 132 women (79 with breast cancer, 53 without) and checked if the ratio related to tumor markers in…

This study looked at how heart surgery impacts the mental health, well-being, and quality of life of adults with Marfan Syndrome. Researchers asked 28 patients to fill out questionnaires about depression, fatigue, pain, and self-esteem before surgery and at several points after. …

This study looked at how a genetic test that checks 25 genes linked to hereditary cancers is used in clinics. Over 1,500 people with a personal or family history of cancer took part. Researchers collected blood samples and had participants fill out questionnaires over five years …

This study collected blood and DNA samples from 26 people with early-onset Alzheimer's disease and their close family members. Researchers analyzed the samples to find genetic changes and biomarkers that could help doctors diagnose, treat, and monitor the disease in the future. T…

This study looked at the gut microbiome (the bacteria living in the digestive tract) of 44 people with mild cognitive impairment, early Alzheimer's, or healthy memory. Researchers wanted to see if lifestyle changes could alter the gut microbiome and whether those changes might be…

This study collected blood and tissue samples from 91 adults with aortic valve disease to look for genetic differences that might explain why some develop aortic aneurysms. Researchers compared gene activity in people with bicuspid valves, tricuspid valves, and healthy controls. …

This study examined 39 children aged 4 to 18 with Marfan or Loeys-Dietz syndromes to see how their genetic differences relate to facial and jaw structure. Researchers used X-rays to measure bone relationships in the face and compared groups based on their specific gene changes. T…

This completed early-stage study looked at whether a single dose of HSK3486, an anesthesia drug, changes the heart's electrical activity in 48 healthy adults aged 18 to 45. The main goal was to measure any effects on heart repolarization (QTc interval) and check for side effects.…

This completed study looked at 1,200 people with neurocutaneous syndromes (NF1, TSC, SWS, VHL) in Western China. Researchers compared those who received genetic testing, targeted drugs, and coordinated specialist care against those who got standard care. The goal was to see if pr…

This study followed 530 adults with autosomal dominant polycystic kidney disease (ADPKD) who were already taking the drug tolvaptan (JINARC™). Researchers wanted to see how the medication affected their quality of life, pain, and daily activities, as well as how long it took befo…

This study looked at 44 couples where one or both partners have polycystic kidney disease (PKD). They used IVF combined with genetic testing to select embryos without the disease. The goal was to see how often these treatments led to a healthy pregnancy and live birth, and to tra…

This study looked at whether a simple urine test could predict scarring in kidney transplants, instead of using a needle biopsy. Researchers measured certain genetic markers in urine cells from 300 kidney transplant recipients over the first year after transplant. The goal was to…

This completed pilot study looked at 47 adults with hereditary hemorrhagic telangiectasia (HHT) who also have liver involvement. Researchers used exercise echocardiography (heart ultrasound while pedaling) to measure lung artery pressure during exercise. The goal was to see if th…

This study tested a new computer algorithm that analyzes heart signals during a procedure called ablation for persistent atrial fibrillation (a type of irregular heartbeat). The goal was to see if the system could collect and process these signals to help doctors better understan…

This study tested whether a mindful self-compassion program could be adapted for young adults aged 18 to 29 with Li-Fraumeni syndrome, a genetic condition that greatly raises cancer risk. Seven participants attended a one-day demonstration and gave feedback on how to make the pro…

This completed study at Stanford University looked at the DNA of over 1,000 adults with Neurofibromatosis Type 1 (NF1) to find genetic differences that might explain why some people develop more skin neurofibromas than others. Participants provided blood or saliva samples for gen…

This study looked at 225 adults with a rare, inherited form of kidney disease to find the genetic causes. Participants had chronic kidney failure and often had a family history of gout. Researchers tested for known gene mutations and searched for new ones in families without a cl…

This study followed 133 people with PPNAD (a rare adrenal gland disorder) or Carney Complex (a related genetic condition) for three years. The goal was to better understand the symptoms and genetic causes of these diseases, not to test a new treatment. Participants had yearly che…

This study looked at 34 breastfed infants under 6 months old with cow's milk protein allergy. Researchers wanted to see if a cow's milk elimination diet for mothers and babies could improve symptoms, growth, and gut immune markers like MUC2 and sIgA. They collected stool samples …

This study tested how the experimental drug radiprodil interacts with five common medications (warfarin, midazolam, digoxin, rosuvastatin, and omeprazole) in 18 healthy adults. Participants took radiprodil alone and then with each of these drugs to measure changes in drug levels …

This completed study looked at 40 people with spinocerebellar ataxia types 2 and 7, a rare brain disease that affects movement. Researchers used MRI scans and lumbar punctures over one year to track changes in the brain and body. The goal was to find reliable markers that could b…

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This study tested over 1,000 women with endometrial cancer for DNA repair problems that can be inherited (Lynch syndrome). By analyzing tumor DNA, researchers aimed to personalize cancer treatment and identify family members who might also be at risk. The goal was to improve care…

This study looked at how symptoms of hereditary hemorrhagic telangiectasia (HHT) affect patients' quality of life. Researchers used a special questionnaire developed with patient input to measure different aspects like physical limits, worry about bleeding, and social relationshi…

This study looked at 25 people with FOXP1 syndrome, a rare genetic condition, to better understand their psychiatric symptoms. Researchers used interviews and questionnaires with families to assess hyperactivity, attention, anxiety, autism traits, and more. The goal is to improve…

This completed study from the University of São Paulo measured physical activity levels and quality of life in 100 adults with cardiac arrhythmias. Researchers used questionnaires to see how active patients were and how they felt physically and mentally. The goal was to understan…

This study looked at whether offering exome sequencing (a detailed genetic test) along with tailored genetic counseling helps people at high risk for hereditary cancer syndromes understand their risk and take action. Nearly 1,000 adults from diverse backgrounds in Colorado and Or…

This study looked at 90 adults with Marfan syndrome to compare spinal symptoms and daily limitations between those who have dural ectasia (a widening of the spinal sac) and those who do not. Researchers used questionnaires to measure pain, activity limits, and quality of life. Th…

This completed study looked at how the pigment layer of the eye works in 30 people with neurofibromatosis type 1. Researchers used special eye tests to measure electrical signals from the pigment layer and compared them to images of the back of the eye. The goal was to confirm ea…

This study collected umbilical cord blood and tissue from 16 newborns who have a parent with hereditary hemorrhagic telangiectasia (HHT), a genetic disorder causing abnormal blood vessels. Researchers aim to grow and compare endothelial cells from these babies with cells from hea…