de Wit M.C.Y.,Erasmus MC Sophia Childrens Hospital |
Tiddens H.A.W.M.,Erasmus MC Sophia Childrens Hospital |
de Coo I.F.M.,Erasmus MC Sophia Childrens Hospital |
Mancini G.M.S.,Sophia Genetics
European Journal of Medical Genetics | Year: 2011
Recently in this journal, Masurel-Paulet et al. reported the association between pulmonary disease and a mutation in X-linked FLNA in a male patient. We confirm this association in a female patient, showing that this complication is not sex-specific. Our patient has a FLNA missense mutation (c.220G > A) and presented with cerebral periventricular nodular heterotopia, cardiovascular abnormalities, and pulmonary disease consisting of lobar emphysema of the right middle pulmonary lobe with severe malacia of the right sided bronchus intermedius. Surgical resection of the right middle lobe was necessary and she had long-term oxygen dependency. Symptoms improved with age. © 2011 Elsevier Masson SAS. Source
Kool H.,Sophia Childrens Hospital |
Mous D.,Sophia Childrens Hospital |
Tibboel D.,Sophia Childrens Hospital |
de Klein A.,Sophia Genetics |
Rottier R.J.,Sophia Childrens Hospital
Birth Defects Research Part C - Embryo Today: Reviews | Year: 2014
Pulmonary vascular diseases of the newborn comprise a wide range of pathological conditions with developmental abnormalities in the pulmonary vasculature. Clinically, pulmonary arterial hypertension (PH) is characterized by persistent increased resistance of the vasculature and abnormal vascular response. The classification of PH is primarily based on clinical parameters instead of morphology and distinguishes five groups of PH. Congenital lung anomalies, such as alveolar capillary dysplasia (ACD) and PH associated with congenital diaphragmatic hernia (CDH), but also bronchopulmonary dysplasia (BPD), are classified in group three. Clearly, tight and correct regulation of pulmonary vascular development is crucial for normal lung development. Human and animal model systems have increased our knowledge and make it possible to identify and characterize affected pathways and study pivotal genes. Understanding of the normal development of the pulmonary vasculature will give new insights in the origin of the spectrum of rare diseases, such as CDH, ACD, and BPD, which render a significant clinical problem in neonatal intensive care units around the world. In this review, we describe normal pulmonary vascular development, and focus on four diseases of the newborn in which abnormal pulmonary vascular development play a critical role in morbidity and mortality. In the future perspective, we indicate the lines of research that seem to be very promising for elucidating the molecular pathways involved in the origin of congenital pulmonary vascular disease. © 2014 Wiley Periodicals, Inc. Source
Sophia Genetics | Date: 2016-03-17
Data processing and computer equipment; data banks (software); software (recorded programs); computer programs for data search, collection, management, storage and analysis; data processing apparatus; integrated circuits containing programs for audio, video or computer data processing; recorded or downloaded sounds, images or data. Business management; commercial administration; office functions; collection of information into computer databases; compilation and systematization of data in data banks; compilation of information into computer databases; data processing service by computer; systematization of data in a central file; professional consulting for the organization and administration of means of computer data recording, transcription, conversion, composition, compilation and systematization. Project studies, expert reports and research of a technical nature; writing, design, development and updating of software; technical support concerning the use of software; hosting of online platforms; provision of online non-downloadable software; provision of software on platforms enabling users to access software, computer networks, computer servers and computer and data storage systems and to use them; provision of scientific information via web-based platforms; data storage and cloud computing for bioinformatic analysis; bioinformatic analysis services, development of software and pipeline architectures; provision of methods and tools for calculations and bioinformatics for data analysis; development and maintenance of data management software, database construction; development of genomic and bioinformatic applications; storage of data by computer; provision of advice and information for the aforesaid services or those relating thereto. Medical services; health services; medical analysis services related to the treatment of individuals; medical diagnostics, diagnostics in the field of medicine.
Sophia Genetics | Date: 2016-05-12
Data processing and computer equipment; data processing systems; software (recorded programs); data processing apparatus; integrated circuits containing programs for audio, video or computer data processing; recorded or downloaded sounds, images or data. Business management; business administration; office functions; compilation of information into computer databases; compilation and systematization of data in data banks; compilation of information into computer databases; data processing service by computer; systematization of data in a central file; professional consulting for the organization and administration of means of computer data recording, transcription, conversion, composition, compilation and systematization. Medical services; health care services; medical analysis services related to the treatment of individuals; medical diagnostics, diagnostics in the field of medicine.
News Article | July 8, 2014
The round was led by Dr Mike Lynch’s Invoke Capital, Swisscom and Endeavour Vision. Led by Jurgi Camblong, CEO, Sophia Genetics is a pioneer in Data-Driven Medicine, a crossover field that requires deep expertise in Next Generation Sequencing (NGS), combined with accurate and scalable predictive algorithms to diagnose genetic diseases. With this investment, the company gains access to Invoke’s portfolio company Genalys, whose Cambridge-based mathematicians apply big data approaches to genomic information. In three years, Sophia Genetics has developed bioinformatics pipelines and visualization tools for more than 70 commercial panels, proprietary custom panels and is extending that capability to whole exomes and genomes. The company obtains CE-IVD marking for each supported pipeline and has received ISO 13485 certification.