An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast

2020 ◽  
pp. 1-16
Author(s):  
Augusto César Cardoso-dos-Santos ◽  
Virginia Ramallo ◽  
Marcelo Zagonel-Oliveira ◽  
Maurício Roberto Veronez ◽  
Pablo Navarro ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Genetic Diseases ◽  
Genetic System ◽  
Quantitative Information ◽  
Medical Genetics ◽  
Epidemiological Surveillance ◽  
Spatially Correlated ◽  
Demographic Heterogeneity ◽  
Rare Genetic Diseases ◽  
Brazilian Northeast

Abstract Several studies have shown that the Brazilian Northeast is a region with high rates of inbreeding as well as a high incidence of autosomal recessive diseases. The elaboration of public health policies focused on the epidemiological surveillance of congenital anomalies and rare genetic diseases in this region is urgently needed. However, the vast territory, socio-demographic heterogeneity, economic difficulties and low number of professionals with expertise in medical genetics make strategic planning a challenging task. Surnames can be compared to a genetic system with multiple neutral alleles and allow some approximation of population structure. Here, surname analysis of more than 37 million people was combined with health and socio-demographic indicators covering all 1794 municipalities of the nine states of the region. The data distribution showed a heterogeneous spatial pattern (Global Moran Index, GMI = 0.58; p < 0.001), with higher isonymy rates in the east of the region and the highest rates in the Quilombo dos Palmares region – the largest conglomerate of escaped slaves in Latin America. A positive correlation was found between the isonymy index and the frequency of live births with congenital anomalies (r = 0.268; p < 0.001), and the two indicators were spatially correlated (GMI = 0.50; p < 0.001). With this approach, quantitative information on the genetic structure of the Brazilian Northeast population was obtained, which may represent an economical and useful tool for decision-making in the medical field.

scholarly journals Medical genetics workforce in Brazil: practitioners, services, and disease distribution

2021 ◽  
Author(s):  
Carolina Bonilla ◽  
Vinicius Albuquerque Sortica ◽  
Lavinia Schuler-Faccini ◽  
Alicia Matijasevich ◽  
Mário Cesar Scheffer
Keyword(s):  
Demographic Data ◽  
Genetic Diseases ◽  
Significant Proportion ◽  
Medical Genetics ◽  
Public And Private ◽  
Medical Specialties ◽  
Public System ◽  
The Public ◽  
Rare Genetic Diseases ◽  
Cancer Syndromes

Purpose In anticipation of the implementation of personalized medicine (PM) in Brazil we assessed the demographic characteristics of its medical genetics workforce together with the distribution of rare genetic diseases (RGD) and hereditary cancer syndromes (HCS) across municipalities in the country. Methods We used demographic data from an earlier report on medical specialties, and open databases providing summarized data on the public and private healthcare systems, for the years 2019 and 2020. In the public system we considered RGD live births and hospitalizations, and HCS mortality. In the private system we obtained data on RGD, HCS and genetic counselling appointments. Results The 332 registered medical geneticists (MGs) were mostly female, attended a public medical school, and were predominantly registered in the Southeast. The distribution of MGs overlapped the country-wise distribution of all types of genetic disease and service examined, indicating that ~30% of the patient population has access to a MG specialist. Conclusion The Brazilian MG workforce is concentrated in the richest and most populated areas and while it covers a significant proportion of the population there are vast regions with very limited services. The public health system should address these inequalities for a successful transition to PM.

scholarly journals Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007–2013)

2014 ◽  
Vol 155 (9) ◽  
pp. 348-357 ◽  
Author(s):  
Katalin Szakszon ◽  
Erzsébet Balogh ◽  
Anikó Ujfalusi ◽  
Beáta Bessenyei ◽  
Gabriella P. Szabó ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Congenital Anomalies ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
International Standards ◽  
Time Interval ◽  
Clinical Genetics ◽  
Eastern Region ◽  
Rare Genetic Diseases ◽  
International Data

Introduction: 80% of rare diseases have a genetic origin, and 50% manifest themselves as congenital anomalies. Their adequate health care includes early recognition of genetic anomalies and prevention of recurrence. Aim: The aims of the authors were to provide correct diagnoses to patients with multiple congenital anomalies with or without mental retardation attending to the outpatient clinic of the Clinical Genetics Center at the University of Debrecen in the time interval between August 1, 2007 and March 31, 2013, establish the possibility of prenatal diagnosis, assess the distribution of different genetic mechanisms in the background of rare genetic diseases, compare them with international data, and develop an algorithm for the diagnostic approach of rare genetic diseases applicable in Hungary. Method: Clinical data and genetic results of patients were evaluated, and patients were categorized into one of the ten proposed etiological groups, based on which the distribution of genetic causes was defined. Results: Clinical diagnosis was achieved in 64.3% of patients, confirmed genetic diagnosis in 37.8%, while 35.7% of patients remained undiagnosed. Several dysmorphic syndromes and metabolic disorders were first diagnosed in Hungary, two of which unique in the literature. Conclusions: In the centre of the authors the diagnostic effectiveness of chromosome aberrations exceeds the international standards, that of known microdeletions and dysmorphic syndromes meets international data, and the genetic diagnosis of mendelian disorders and submicroscopic copy number changes remain below international figures. Orv. Hetil., 2014, 155(9), 348–357.

scholarly journals Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond

2021 ◽  
Vol 18 (16) ◽  
pp. 8242
Author(s):  
Michał Nowicki ◽  
Stanisława Bazan-Socha ◽  
Mariusz Kłopotowski ◽  
Beata Błażejewska-Hyżorek ◽  
Mariusz Kusztal ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Genetic Diseases ◽  
Healthcare Providers ◽  
Treatment Programs ◽  
Current Therapy ◽  
Term Care ◽  
Pharmacological Chaperone ◽  
Enzyme Replacement ◽  
Home Based ◽  
Rare Genetic Diseases

Current therapy for Anderson–Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat. Some countries around the world offer such treatment to patients in the comfort of their own homes. The 2020–2021 COVID-19 pandemic has pushed global healthcare providers to evolve their services so as to minimize the risk of COVID-19 exposure to both patients and providers; this has led to advances in telemedicine services and the increasing availability of at-home treatment for various procedures including parenteral drug administration. A total of 80% of surveyed Anderson–Fabry disease patients in Poland would prefer home-based treatment, which would be a safe and convenient alternative to clinic-based treatment if patient selection is based on our proposed algorithm. Our recommendations for home-based treatments appear feasible for the long term care of Anderson–Fabry disease patients during the COVID-19 pandemic and beyond. This may also serve as a basis for home-based treatment programs in other rare and ultra-rare genetic diseases.

scholarly journals TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

Cells ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 820
Author(s):  
Lorena Kumarasinghe ◽  
Lu Xiong ◽  
Maria Adelaida Garcia-Gimeno ◽  
Elisa Lazzari ◽  
Pascual Sanz ◽  
...  
Keyword(s):  
Common Ancestor ◽  
Genetic Diseases ◽  
Ubiquitin Ligases ◽  
E3 Ubiquitin Ligases ◽  
Lafora Disease ◽  
C Terminus ◽  
Rare Genetic Diseases ◽  
Tripartite Motif ◽  
Trim Proteins ◽  
Ring E3

Tripartite motif (TRIM) proteins are RING E3 ubiquitin ligases defined by a shared domain structure. Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle Muscular Dystrophy R8 and Lafora disease, respectively. These two proteins are evolutionary related, share a common ancestor, and both display NHL repeats at their C-terminus. Here, we revmniew the function of these two related E3 ubiquitin ligases discussing their intrinsic and possible common pathophysiological pathways.

scholarly journals High-Throughput Sequencing and Rare Genetic Diseases

2012 ◽  
Vol 3 (5) ◽  
pp. 197-203 ◽  
Author(s):  
P. Makrythanasis ◽  
S.E. Antonarakis
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Genetic Diseases ◽  
Rare Genetic Diseases

Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort

2021 ◽  
pp. 104230
Author(s):  
Alex Moretti ◽  
Paola Cianci ◽  
Anita De Paoli ◽  
Francesca Meroni ◽  
Silvia Tajè ◽  
...  
Keyword(s):  
Genetic Diseases ◽  
Burden Of Care ◽  
Rare Genetic Diseases ◽  
Italian Cohort

Ethics and equity in rare disease research and healthcare

2021 ◽  
Author(s):  
Maria Koromina ◽  
Vasileios Fanaras ◽  
Gareth Baynam ◽  
Christina Mitropoulou ◽  
George P Patrinos
Keyword(s):  
Rare Diseases ◽  
Ethical Issues ◽  
Genetic Diseases ◽  
Ethical Framework ◽  
Middle Income ◽  
Next Generation Sequencing Technology ◽  
Ethical Frameworks ◽  
Rare Genetic Diseases ◽  
Conducting Research ◽  
Key Aspects

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. Moreover, we focus on addressing ethical issues surrounding research in low- and middle-income countries. Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks, when conducting research involving genomics data with a particular emphasis on rare diseases and genetics testing.

scholarly journals AB083. Social media with cartoon characters as a powerful tool for expanding medical education and raising awareness of rare genetic diseases

2017 ◽  
Vol 5 (S2) ◽  
pp. AB083-AB083
Author(s):  
Thipwimol Tim-Aroon ◽  
Suphatcharee Leklab ◽  
Marin Satawiriya ◽  
Sirima Ketsuwan ◽  
Duangrurdee Wattanasirichaigoon
Keyword(s):  
Social Media ◽  
Medical Education ◽  
Genetic Diseases ◽  
Raising Awareness ◽  
Rare Genetic Diseases ◽  
Cartoon Characters

scholarly journals Case Report: First Two Identified Cases of Fabry Disease in Central Asia

2021 ◽  
Vol 12 ◽  
Author(s):  
Francesca Cainelli ◽  
Dias Argandykov ◽  
Dauren Kaldarbekov ◽  
Murat Mukarov ◽  
Liên Tran Thi Phuong ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Central Asia ◽  
Genetic Diseases ◽  
Delayed Diagnosis ◽  
Specific Treatment ◽  
Organ Damage ◽  
Multisystem Disorder ◽  
Family Pedigree ◽  
Rare Genetic Diseases ◽  
Delays In Diagnosis

Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly globotriaosylceramide or Gb3) and its derivative globotriaosylsphingosine or lyso-Gb3. Classic FD is a multisystem disorder which initially presents in childhood with neuropathic pain and dermatological, gastrointestinal, ocular, and cochleo-vestibular manifestations. Over time, end-organ damage such as renal failure, cardiac arrhythmia and early stroke may develop leading to reduced life expectancy in the absence of specific treatment.Case presentation: We describe two Kazakh patients who presented in adulthood with a delayed diagnosis. We conducted also a family screening through cascade genotyping.Conclusion: This is the first description of cases of Fabry disease in Central Asia. An extensive family pedigree enabled the identification of ten additional family members. Patients with rare genetic diseases often experience substantial delays in diagnosis due to their rarity and non-specific symptoms, which can negatively impact their management and delay treatment. FD may be difficult to diagnose because of the non-specificity of its early and later-onset symptoms and its X-linked inheritance. Raising awareness of clinicians is important for earlier diagnosis and optimal outcome of specific therapies.

Sign in / Sign up

Export Citation Format

Share Document