Neurofibromatosis type 1 (NF1) is the most common genetic tumor predisposition syndrome, affecting up to 1 in 2500 individuals. Cutaneous neurofibromas are benign with self-limited growth; however, tumor burden may be excessive, tumors do not regress, and they can b...
We've found 32 total results for "genetic".
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has...
- Fabry Disease
- Gaucher Disease
- Pick Disease of the Brain
- Neuronal Ceroid-Lipofuscinoses
- Leukodystrophy, Metachromatic
- Niemann-Pick Diseases
- Niemann-Pick Disease, Type A
- Niemann-Pick Disease, Type C
- Mucopolysaccharidosis II
- Gangliosidosis, GM1
- Wolman Disease
- Xanthomatosis, Cerebrotendinous
- Mucopolysaccharidosis VI
- Mucopolysaccharidosis IV
- Mucopolysaccharidosis III
- Mucopolysaccharidosis VII
Age: Birth - 66+
The eMERGE Network embraces the opportunity to use new methods in genomic medicine, information science, and research participant engagement to identify people at very high risk for specific diseases and recommend individualized approaches to prevention and care. Th...
Age: 3 - 75 years
The purpose of this study is to collect, store, and study blood samples from people with Lysosomal Storage Diseases (LSDs). Some examples of LSDs include Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidosis I. The samples from this study will provide...
The purpose of this study is to collect, store, and study blood samples from people with Fragile X Spectrum Disorders. The samples from this study will provide a research for researchers to conduct genetic and other studies. This information may be used to advance the m...
The purpose of the Pancreatic Cancer Early Detection (PRECEDE) Consortium is to conduct research on multiple aspects of early detection and prevention of pancreatic ductal adenocarcinoma (PDAC) by establishing a multisite cohort of individuals with family history ...
The goal of this study is to establish a birth cohort that collects prenatal and early life biosamples and environmental samples and rigorously phenotypes young children for food allergy and Atopic Dermatitis (AD) to identify prenatal and early life markers of high ...
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
Age: 30 years - 66+
TAPISTRY is a Phase II, global, multicenter, open-label, multi-cohort study designed to evaluate the safety and efficacy of targeted therapies or immunotherapy as single agents or in rational, specified combinations in participants with unresectable, locally advance...
The Parkinson Progression Marker Initiative 2.0 (PPMI 2.0) is a longitudinal, observational, multi-center natural history study to assess progression of clinical features, digital outcomes, and imaging, biologic and genetic markers of Parkinson's disease (PD) progre...
Age: 30 years - 66+
The purpose of this study is to characterize the safety, tolerability, pharmacokinetics, pharmaco-dynamics and preliminary anti-tumor activity of DRP-104 (sirpiglenastat) administered via intravenous infusion or via subcutaneous injection as a single agent and in ...
The primary aim is to determine the effect of participant and provider knowledge of a positive APOL1 status and accompanying guideline based clinical decision support (CDS) on blood pressure management on change in systolic blood pressure (SBP) from baseline to 3 ...
Age: 18 - 70 years
To assess the feasibility, impact, and participant satisfaction of offering Clinical Laboratory Improvement Amendments (CLIA) certified genetic testing as part of clinical care for People with Parkinson's disease (PWP).
The study team will determine the association between d,l-methylphenidate (MPH) therapeutic outcomes in ADHD patients and genetic variants of CES1 and reveal key associations between CES1 genotypes and the PK and PD of MPH.
Age: 6 - 26 years
We plan to identify the anatomical, biochemical and genetic differences between normal and glaucomatous eyes using various using tissue samples from the eye and blood.
Age: 18 - 90 years
The MyDRUG study is a type of Precision Medicine trial to treat patients with drugs targeted to affect specific genes that are mutated as part of the disease. Mutations in genes can lead to uncontrolled cell growth and cancer. Patients with a greater than 25% mutati...
Ichthyosis is a group of genetic skin disorders that present with dry, thickened, scaly, or flaky skin. As of today, there is no cure or treatment. Doctors can only treat the dry skin with different types of emollients to soften the scale. A deeper understanding of ...
The investigators are collecting genetic information through blood samples as well as clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the UK, Europe and North America. This study will draw on both existing and new samples fr...
Craniosynostosis (CS) is a common malformation occurring in ~4 per 10,000 live births in which the sutures between skull bones close too early, causing long-term problems with brain and skull growth. Infants with CS typically require extensive surgical treatment and...
Age: Birth - 80 years
This is a prospective, observational, cohort study of patients with a clinical diagnosis of diabetes who are undergoing clinically indicated kidney biopsy. The intent is to collect, process, and study kidney tissue and to harvest blood, urine and genetic materials t...