A5015818244- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Genetic Associations and Epidemiology
- Biotechnology and Related Fields
- DNA Repair Mechanisms
- Bioinformatics and Genomic Networks
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Forensic and Genetic Research
- Alzheimer's disease research and treatments
- GDF15 and Related Biomarkers
- Medicinal Plants and Neuroprotection
- Neurological disorders and treatments
- Folate and B Vitamins Research
- BRCA gene mutations in cancer
- Hearing, Cochlea, Tinnitus, Genetics
- Metabolism and Genetic Disorders
- Neurological diseases and metabolism
- Paleopathology and ancient diseases
- Nutrition, Genetics, and Disease
- Vestibular and auditory disorders
- Neurology and Historical Studies
- Hereditary Neurological Disorders
- Molecular Biology Techniques and Applications
Instituto Nacional de Ciencias Neurológicas
2015-2024
Universidad Científica del Sur
2023-2024
National University of San Marcos
2018-2023
Instituto Nacional de Neurología y Neurocirugía
2023
Instituto Nacional de Enfermedades Neoplásicas
2015-2021
Universidad Peruana Cayetano Heredia
2020
There is mounting evidence of the value clinical genome sequencing (cGS) in individuals with suspected rare genetic disease (RGD), but cGS performance and impact on care a diverse population drawn from both high-income countries (HICs) low- middle-income (LMICs) has not been investigated. The iHope program, philanthropic initiative, established network 24 sites eight through which it provided to signs or symptoms an RGD constrained access molecular testing. A total 1,004 (median age, 6.5...
SORL1 risk variants have been reported in both early-onset and late-onset AD. The aim of this abstract is to report a AD-risk variant within Peruvian AD family.
There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides clinical genome sequencing (cGS) underserved individuals with signs or symptoms of rare diseases no testing. Here we describe the performance impact cGS 247 patients from three clinics Peru. Although had at least one test prior (70.9%), frequent was karyotyping (53.4%). diagnostic yield 54.3%, candidate variants reported an additional 22.3% patients. Clinical GS results...
<title>Abstract</title> Spinocerebellar ataxia type 10 (SCA10) is a neurodegenerative disease predominant in Latin American individuals with Indigenous ancestry. SCA10 caused by an expansion of ATTCT repeat within the <italic>ATXN10</italic> gene. Healthy carry 9-32 repeats, whereas patients 280 repeats and higher. Recently, expanded alleles (>32 repeats) have been identified healthy Peruvian individuals, unclear significance. This study aims to characterize variability gene across...
: Hearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are main cause in 50% cases. Pathogenic variants GJB2 gene major non-syndromic hearing (NSHL), while their distribution highly heterogeneous different populations. To best our knowledge, there no data regarding etiologies Peru. In this study, we screened 133 Peruvian families with NSHL living Lima. We sequenced both...
Juvenile-onset Huntington's Disease (JoHD) or disease (HD) with age of onset ≤20 years, is a rare clinical entity that often differs phenotypically from adult HD and represents only 1-15% total cases.To characterize the genetic characteristics 32 JoHD patients seen in Peruvian Neurogenetics clinic 2000-2018.This study retrospective review. The database Lima, Peru was searched for between 2000 2018. Inclusion criteria were: (1) genetically confirmed disease; (2) according to documented...
Neurogenetics is an emerging discipline in Peru that links basic research with clinical practice. The Research Center located Lima, the only unit dedicated to specialized care of neurogenetic diseases country. From beginning, neurogenetics has been closely linked study Huntington’s Disease (HD), from PCRgenotyping HTT gene, current haplogroup studies HD. other monogenic led implementation alternative methodologies for genotyping Fragile X and Myotonic Dystrophy Type 1. Both, national...
Abstract Background Common and rare variants in SORL1 have been associated with increased risk of Alzheimer’s disease (AD). Since 2019, we run an international collaborative research initiative to ascertain a Peruvian cohort for other related dementias genetic studies (PeADI). Method A family (4 AD cases two mild cognitive impairment (MCI) cases) was recruited through the PeADI study. All six family‐member completed full assessment, had plasma‐based biomarkers pTau181 Aβ42/40 measured via...
Molecular genetic testing has limited access in many regions across the world, especially developing countries. The iHope program philanthropically provides clinical genome sequencing (cGS) to individuals with signs or symptoms of rare diseases and no molecular testing.
Abstract Increasing ethnic/ancestral diversity in genetic studies is critical for defining the architecture of Alzheimer disease (AD). Amerindian (AI) populations are substantially underrepresented AD studies. The Peruvian population, with up to ∼80% AI ancestry, provides a unique opportunity assess role ancestry AD. We aimed conduct genome-wide association study and comprehensive analyzes identify novel ancestry-specific susceptibility loci characterize known risk population. 528...
Abstract Alzheimer disease (AD) is the leading cause of dementia in elderly and occurs all ethnic racial groups. ApoE ε4 most significant genetic risk factor for late-onset AD shows strongest effect among East Asian populations followed by non-Hispanic White has a relatively lower African descent populations. Admixture analysis American Puerto Rican showed that variation correlated with ancestral background local to gene. Native are substantially underrepresented studies. The Peruvian...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that characterized migraines, events, cognitive decline, mood disturbances. However, many CADASIL cases present unusual symptoms such as status epilepticus, movement disorder, or sensory dysfunction. This study describes clinical, genetic, radiologic characteristics of Peruvian family which multiple...
Introducción. La enfermedad de Parkinson (EP) es un trastorno neurodegenerativo común, el segundo más frecuente después la Alzheimer. mutación A53T en gen SNCA, fue primera identificada asociación con EP. mayoría casos EP familias esta provienen regiones cercanas al lugar del descubrimiento original. Objetivos: Evaluar presencia SNCA una muestra peruana incidencia familiar, esporádicos y controles sanos. Material Métodos: Se analizaron, mediante técnica PCR-RFLP, las muestras ADN 34...
Objective: To describe the clinical and molecular characteristics of DM1 patients followed at a tertiary care center in Peru. Background: Myotonic Dystrophy Type 1 is multisystemic pleiotropic neuromuscular disorder caused by an abnormal CTG expansion DMPK gene. Outside Mexico, Brazil Costa Rica, only few cases with accompanying confirmatory diagnosis have been reported Latin America, likely due to limited access diagnosis. Methods: Clinical data was obtained from 72 2009 2014 Neurogenetics...
<h3>Objective:</h3> We have developed an international collaborative research initiative to ascertain a Peruvian cohort for AD and other related dementias genetic studies of Amerindian individuals. <h3>Background:</h3> Peru is one the five largest countries in Latin America harboring high ancestry component this population. The American population, including Peruvians, are underrepresented AD. <h3>Design/Methods:</h3> PeADI was recruit enroll adults aged 65 older comprehensive study....
Abstract Clinical genome sequencing (cGS) holds promise as a unified diagnostic testing platform in patients with suspected rare genetic disease (RGD), however its performance and impact on clinical management diverse global population has yet to be investigated. The iHope program established network of 24 sites eight countries provide cGS individuals signs or symptoms RGD constrained access molecular testing. A retrospective, observational analysis 1,004 who received from June 2016 through...
Abstract Background Increasing ethnic/ancestral diversity in genetic studies is critical for defining the architecture of Alzheimer disease (AD). Amerindian (AI) populations are substantially underrepresented AD studies. The Peruvian (PE) population, with up to ∼80% AI ancestry, provides a unique opportunity assess role ancestry AD. We performed first genome‐wide association study (GWAS) PE population identify novel susceptibility loci and characterize known risk loci. Method dataset...
To describe the costs and services provided by a quarterly neurologic campaign program focused on Huntington's disease (HD) in rural Peru.
April 23, 2018April 10, 2018Free AccessProximal Motor Sensory Hereditary Neuropathy (HMSN-P) in a Peruvian Family with Japanese Ancestry (P2.452)Elison Sarapura-Castro, Darko Quispe, Maryenela Illanes-Manrique, Karina Milla-Neyra, Miguel Inca-Martinez, Erick Figueroa-Ildefonso, Victoria Marca, Hiroshi Takashima, Pilar Mazzetti, and Mario Cornejo-OlivasAuthors Info & AffiliationsApril 2018 issue90 (15_supplement)https://doi.org/10.1212/WNL.90.15_supplement.P2.452 Letters to the Editor