What Is Rare Disease – 8 to 10% of the world’s population is affected by rare diseases; This includes diseases that affect fewer than 1 in 2,000 people. Unfortunately, only 5% of rare diseases (also known as “orphan diseases”) have approved treatments.
Most rare diseases are genetic, and thus remain present throughout a person’s life, even if symptoms do not appear immediately. Many rare diseases appear early in life, and about 30% of children with rare diseases will not live to celebrate their fifth birthday.
What Is Rare Disease
Many therapeutic opportunities exist to treat rare disease patients but are often relegated to the “drawers” of pharmaceutical companies or universities. These opportunities are often never explored or developed because biopharmaceutical companies are rarely willing to risk investing research and development (R&D) budgets into this small market and potential for low financial returns. Academia, on the other hand, often lacks the knowledge of how to conduct robust drug development, especially in the late stages of clinical development.
Bright Ideas For Rare Disease Day 2023
Developing new treatments is expensive, time-consuming and requires tight coordination between research and development (R&D) activities and a large spectrum of expertise. Therefore, research and development of new treatments for rare diseases by repurposing existing therapies is focused on accelerating and increasing the likelihood of success.
As a private non-profit organization, we seek to uncover the potential of existing molecules to address critical unmet treatment needs in rare diseases, thereby providing better opportunities for existing drugs to reach these vulnerable patients. provide Genetic testing can help improve their lives. People and families living with a rare disease. Each rare disease, alone, may be considered “very rare” but given that there are >7,000 rare diseases, taken together, they affect millions of people worldwide. To raise awareness about rare diseases, we have put together an infographic to explain the basics of rare diseases and how they affect the people around us.
Bhatt, Kesha “The Importance of Research on Rare Diseases.” PLOS, 11 Mar. 2020, https://scicomm.plos.org/2020/03/11/the-importance-of-research-on-rare-diseases/. Accessed 3 February 2022.
Nguyengang Wakap, Stephanie, et al. “Estimating the Cumulative Point Prevalence of Rare Diseases: An Analysis of the Orphanet Database.” Eur J Hum Genet 28, 165–173 (2020), https://doi.org/10.1038/s41431-019-0508-0, https://www.nature.com/articles/s41431-019-0508-0 .pdf. Accessed 7 February 2022.
Rare Diseases Of The Respiratory System
A recent study tracked molecular changes in 108 people over time, revealing that aging involves critical changes around the ages of 44 and 60.
Genetics as we know and understand it today has been shaped, for decades, by the work of many dedicated scientists around the world, and t.
A comprehensive single-cell transcriptomic atlas of 1.3 million cells from aged human brains reveals cellular pathways associated with Alzheimer’s.
In May 2024, the American Society of Clinical Oncology (ASCO) published new guidelines for germline genetic testing in patients with cancer.
Rare. We Are Many
Diagnostic panels for rare diseases are divided into test categories based on the organ or tissue most affected by the syndrome.
The FH, PH and RAS kit analyzes 11, 11 and 30 genes respectively and covers the disorders familial hypercholesterolaemia (FH), pulmonary hypertension (PH) and RASopathy (RAS).
AKT3, BRAF, CBL, CCND2, EPHB4, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NF2, NRAS, PIK3CA, PIK3R2, PPP1CB, PTPN11, RAF1, RAFSA, RASSA, RASSA, SMARC1, SOS1, SOS2. , SPRED1, STAMBP
• NM_001042492.3 (NF1): exon 9, 10, 11, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 23, 23, 33 , 34, 35 and 36
Rare Disease Day: February 28, 2023
The purpose of the test is to detect all variants associated with the genes listed above by targeting the MANE or/and all coding exons of the canonical transcripts, and 12 bp of the adjacent intronic sequence. Variants that fall outside the target regions are not intended to be detected by this assay. Unless otherwise noted, sequence changes (SNVs and INDELS) in promoters and other non-coding regions are not covered by this assay. Some sequence changes (SNVs and INDELS) in the non-coding regions of selected genes that are of clinical significance are also included in the analysis. In cases where two variants are identified in a gene, the test does not distinguish whether they are on the same chromosome (in cis) or on different chromosomes (in trans). Certain types of genetic abnormalities such as inversions, rearrangements, polyploidy and epigenetic effects are not covered by this test. Certain sequence changes (SNVs and INDELS) in repetitive target regions, sequences of high homology such as fragmentary duplications and pseudogenes, as well as high/low GC-content regions could not be detected. Copy number variations (CNVs) are calculated using high quality, de-duplicated and uniquely aligned sequence reads. CNVs are detected for a subset of target regions using a depth of sequencing coverage approach by applying GC-content normalization. Genomic regions are called variants if their normal depth of coverage deviates significantly from the expected normal coverage estimated from a set of reference clinical samples. The test can detect CNVs down to a few exon level resolutions. The test cannot detect CNVs at genomic regions with either low mappability or repeats, pseudogenes and high/low GC-content. Detection of CNVs using NGS has lower sensitivity/specificity than orthogonal quantitative methods, so the absence of reported CNVs does not guarantee the absence of CNVs. Lack of disease-causing variants in target genes reduces but does not exclude the possibility of a disease-related syndrome. Although the test is highly accurate, there is still the possibility of false positive or false negative results.
The PGT kit detects whole chromosome aneuploidies, segmental aneuploidies up to 10Mb, selected male polyploids, and mosaicism greater than 50%.
Medicover Genetics offers continuous support to all technology transfer partners through dedicated customer service channels. Our team members are always available to offer their assistance in troubleshooting, quality and performance monitoring, marketing and commercialization insights and technical support. The software we provide is automatically updated to ensure smooth operations.
Medicover Genetics Technology Transfer platform and software provide easy to interpret results through visualization in graphical and tubular format rather than raw data. We also offer template reports and guidance upon request to make it easy for each laboratory to create their own reports.
An Insight Into The Participation Of Rare Disease Patients In Research
VEGA is a bioinformatics analysis software for samples that have been processed using NIPT IVD kits — VERACITY and VERACITY High Content (HC) — or TarCET IVD kits. VEGA performs analysis on NGS data generated by NIPT or TarCET IVD workflows. NIPT analysis provides estimation of fetal fractions and binary classification of samples at high risk or low risk for trisomy 21, 18, 13, sex chromosome aneuploidies (SCAs), selected microdeletions, and monogenic diseases. TarCET analysis detects single nucleotide variants, short insertions and/or deletions and copy number changes. In addition, Vega can be used for TarCET PGT to detect aneuploidies and structural rearrangements in embryos created for in vitro fertilization (IVF).
Polaris is a genetic data management system that enables laboratory personnel to manage sample data generated during the Varicity and Varicity High Content (HC) workflows. The Polaris Medicover Genetics Analysis Engine interfaces with VEGA to provide information for analysis runs and retrieve analysis data for visualization in graphical and tabular format. Polaris can also be integrated with local laboratory management systems.
SIRIUS is a genetic data management web application that enables users to manage information generated by NGS analysis. In addition, SIRIUS facilitates the creation, calculation and modification of sample batches corresponding to sequenced runs and interfaces with VEGA, to provide information about analysis data in visual graphs and tabular formats.
Medicover Genetics’ technology transfer platform offers comprehensive testing in a single sequencing run, making it a unique and efficient solution for laboratories of any size. With our technology transfer platform, laboratories can perform multidisciplinary genetic tests such as NIPT, cardiac, hereditary cancer, carrier screening, and metabolic testing all in a single order. This improves turnaround time and reduces operational costs while ensuring high-quality results without compromising on accuracy. Our comprehensive testing approach is ideal for laboratories seeking to provide a wide range of genetic tests to their healthcare colleagues and patients.
National Rare Disease Policy 2021
Our technology transfer platform is designed to minimize the risk of workflow errors, reduce hands-on processing and increase the accuracy of test results, giving patients and physicians confidence in making informed decisions with our user-friendly protocol. Implementing these protocols ensures that laboratory personnel are trained to follow standardized procedures, reducing the potential for human error and increasing the quality of results.
ABCC8, ABCD1, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACOX1, ACSF3, AGA, AGL, AGPS, ALDH6A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALGALGAL, ALG13, 8, ALG9, AMACR. AMT, ARG1, ARSA, ARSB, ASL, ASPA, ASS1, AUH, B4GALT1, BCKDHA, BCKDHB, BTD, CAD, CCDC115, CD320, CLN3, CLN5, CLN6, CLN8, COBG2, CLPG, CLPG2, CLPG4 COG5, COG6, COG7 , COG8, CPS1, CPT1A, CPT2, CTNS, CTSA, CTSK, DBT, DDOST, DHCR7, DHDDS, DLD, DNAJC12, DNAJC19, DOLK, DPAGT1, DPM1, DPM1, DPMDP3, E3NOFETFA2, ETFDH, FBP1, FUCA1, FUT8, G6PC. , GAA, GALC, GALNS, GAMT, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GLA, GLB1, GLDC, GLUD1, GM2A, GMPPA, GNE, GNPTGPT GNS, GUSB, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HCFC1, HEXA, HEXB, HGSNAT, HMGCL, HMGCS2, HPD, HRAS, HSD17B10, HSD17B4, HYAL1, IDS, IDS, ID17B4, HYAL1, IDS, IDS, KJMP1, K. LIAS, LIPA, LMBRD1, MAN1B1, MAN2B1, MANBA, MCEE, MCOLN1, MFSD8, MGAT2, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOGS, MPDU1, MPI,
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