Biomedicines. 2023 Sep 10;11(9):2500. doi: 10.3390/biomedicines11092500.

ABSTRACT

Stiff person spectrum disorders (SPSD) are paradigm autoimmune movement disorders characterized by stiffness, spasms and hyperekplexia. Though rare, SPSD represent a not-to-miss diagnosis because of the associated disease burden and treatment implications. After decades as an enigmatic orphan disease, major advances in our understanding of the evolving spectrum of diseases have been made along with the identification of multiple associated autoantibodies. However, the most important recent developments relate to the recognition of a wider affection, beyond the classic core motor symptoms, and to further insights into immunomodulatory and symptomatic therapies. In this review, we summarize the recent literature on the clinical and paraclinical spectrum, current pathophysiological understanding, as well as current and possibly future therapeutic strategies.

PMID:37760941 | DOI:10.3390/biomedicines11092500

Eur J Med Genet. 2023 Nov;66(11):104855. doi: 10.1016/j.ejmg.2023.104855. Epub 2023 Sep 25.

ABSTRACT

ADNP syndrome, also known as the Helsmoortel-Van der Aa syndrome (HVDAS), is a neurodevelopmental disorder characterized by hypotonia, developmental delay, and intellectual disability. Diagnosis is typically made postnatally, and little is known about prenatal presentation of the disorder. We report a child who presented with intrauterine growth restriction, proportionate microcephaly, and an abnormal skull shape on fetal ultrasound. Whole exome sequencing performed on amniotic fluid cells showed a de novo pathogenic variant in the ADNP gene, corresponding to a diagnosis of ADNP syndrome.

PMID:37758165 | DOI:10.1016/j.ejmg.2023.104855

PLoS One. 2023 Sep 27;18(9):e0286380. doi: 10.1371/journal.pone.0286380. eCollection 2023.

ABSTRACT

Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function. While recent clinical trials have been promising, there is still no cure for Barth Syndrome. Because TAZ is highly conserved, multiple animal and cell culture models exist for pre-clinical testing of therapeutics. However, since the same mutation in different patients can lead to different symptoms and responses to treatment, isogenized experimental models can't fully account for human disease conditions. On the other hand, isogenized animal models allow for sufficient numbers to thoroughly establish efficacy for a given genetic background. Therefore, a combined method for testing treatments in a panel of isogenized cohorts that are genetically distinct from each other would be transformative for testing emerging pre-clinical therapies. To aid in this effort, we've created a novel panel of 10 Drosophila lines, each with the same TAZ mutation in highly diverse genetic backgrounds, to serve as a helpful resource to represent natural variation in background genetics in pre-clinical studies. As a proof of principle, we test our panel here using nicotinamide riboside (NR), a treatment with established therapeutic value, to evaluate how robust this therapy is across the 10 genetic backgrounds in this novel reference panel. We find substantial variation in the response to NR across backgrounds. We expect this resource will be valuable in pre-clinical testing of emerging therapies for Barth Syndrome.

PMID:37756350 | PMC:PMC10529581 | DOI:10.1371/journal.pone.0286380

Epilepsy Res. 2023 Nov;197:107231. doi: 10.1016/j.eplepsyres.2023.107231. Epub 2023 Sep 20.

ABSTRACT

BACKGROUND: CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.

METHODS: We conducted cognitive interviews with 15 parent caregivers of 1-39-year-old children with CDD. Caregivers discussed their understanding and concerns regarding appropriateness of both questions and answer options. Item wording and questionnaire structure were adjusted iteratively to ensure questions were understood as intended.

RESULTS: The CCSA was refined during three rounds of cognitive interviews into two measures: (1) the CDD Developmental Questionnaire - Caregiver (CDQ-Caregiver) focused on developmental skills, and (2) the CDD Clinical Severity Assessment - Caregiver (CCSA-Caregiver) focused on symptom severity. Branching logic was used to ensure questions were age and skill appropriate. Initial pilot data (n = 11) suggested no floor effects.

CONCLUSIONS: This study modified the caregiver portion of the initial CCSA and provided evidence for its content and response process validity.

PMID:37751639 | DOI:10.1016/j.eplepsyres.2023.107231

Orphanet J Rare Dis. 2023 Sep 26;18(1):303. doi: 10.1186/s13023-023-02915-y.

ABSTRACT

OBJECTIVES: The aims of this paper is to search and explore publications in the field of pharmacovigilance for rare diseases and to visualize general information, research hotspots, frontiers and future trends in the field using the bibliometric tool CiteSpace to provide evidence-based evidence for scholars.

METHODS: We searched the Web of Science Core Collection (WoSCC) for studies related to pharmacovigilance for rare diseases, spanning January 1, 1997-October 25, 2022. CiteSpace software was utilized to discuss countries/regions, institutions, authors, journals, and keywords.

RESULTS: After screening, a total of 599 valid publications were included in this study, with a significant upward trend in the number of publications. These studies were from 68 countries/regions with the United States and the United Kingdom making the largest contributions to the field. 4,806 research scholars from 493 institutions conducted studies on pharmacovigilance for rare diseases. Harvard University and University of California were the top two productive institutions in the research field. He Dian of the Affiliated Hospital of Guizhou Medical University and Peter G.M. Mol of the University of Groningen, The Netherlands, were the two most prolific researchers. The Cochrane Database of Systematic Reviews and the New England Journal of Medicine were the journals with the highest number of articles and co-citation frequency respectively. Clinical trial, therapy and adverse event were the top three most cited keywords.

CONCLUSIONS: Based on keywords co-occurrence analysis, four research topics were identified: orphan drug clinical trials, postmarketing ADR surveillance for orphan drugs, rare diseases and orphan drug management, and diagnosis and treatment of rare diseases. Immune-related adverse reactions and benefit-risk assessment of enzyme replacement therapy were at the forefront of research in this field. Treatment outcomes, early diagnosis and natural history studies of rare diseases may become hotspots for future research.

PMID:37752556 | PMC:PMC10523788 | DOI:10.1186/s13023-023-02915-y

J Patient Rep Outcomes. 2023 Sep 26;7(1):95. doi: 10.1186/s41687-023-00635-2.

ABSTRACT

BACKGROUND: Classic Galactosemia (CG) is a rare, autosomal recessive condition. Newborn screening and a timely galactose-restricted diet can resolve acute symptoms and decrease fatalities, but significant chronic, progressive morbidities remain and significantly impact daily life. The objective of this study was to better understand the burden of disease in children and adults with CGs and describe how morbidities evolve over time.

METHODS: A total of 49 individuals with CG from the United States (US) were included in the qualitative surveys (13 adults [9 self-reported] and 36 pediatric patients). Fifteen follow-up interviews were conducted with 5 adults and 10 caregivers, discussing 17 individuals with CG overall (2 caregivers each discussed 2 children).

RESULTS: Qualitative survey and interview data demonstrated the substantial burden of CG. Difficulties in a wide range of functions were experienced, which included: speech articulation; language and communication; cognition, memory and learning; emotions; and social interactions. Most difficulties appeared in childhood and persisted or worsened with age. Most adults did not live independently. Others lived semi-independently and experienced many daily challenges and required support. Caregivers also described the burden of caring for someone with CG and spoke about the impact this has on their day-to-day life, work, and relationships.

CONCLUSIONS: These findings demonstrate the pronounced and persistent burden of disease encountered by individuals with CG, and that the condition has a significant impact on the quality of life of caregivers.

PMID:37751006 | DOI:10.1186/s41687-023-00635-2

J Transl Med. 2023 Sep 27;21(1):667. doi: 10.1186/s12967-023-04531-7.

ABSTRACT

BACKGROUND: Spinal cord glioma (SCG) is considered an orphan disease that lacks effective treatment options with margins that are surgically inaccessible and an overall paucity of literature on the topic. The tumor microenvironment is a critical factor to consider in treatment and modeling design, especially with respect to the unresectable tumor edge. Recently, our group developed a high-grade spinal cord glioma (SCG) model in Göttingen minipigs.

METHODS: Immunofluorescence and ELISA were performed to explore the microenvironmental features and inflammation cytokines in this minipig SCG model. Protein carbonyl assay and GSH/GSSG assay were analyzed in the core and edge lesions in the minipig SCG model. The primary core and edge cells proliferation rate were shown in vitro, and the xenograft model in vivo.

RESULTS: We identified an elevated Ki-67 proliferative index, vascular and pericyte markers, CD31 and desmin in the tumor edge as compared to the tumor core. In addition, we found that the tumor edge demonstrated increased pro-inflammatory and gliomagenic cytokines including TNF-α, IL-1β, and IL-6. Furthermore, the mediation of oxidative stress is upregulated in the tumor edge. Hypoxic markers had statistically significant increased staining in the tumor core, but were notably still present in the tumor edge. The edge cells cultures derived from SCG biopsy also demonstrated an increased proliferative rate compared to core cell cultures in a xenotransplantation model.

CONCLUSIONS: Our study demonstrates heterogeneity in microenvironmental features in our minipig model of high-grade SCG, with a phenotype at the edge showing increased oxidative stress, proliferation, inflammatory cytokines, neovascularization, and decreased but present staining for hypoxic markers. These findings support the utility of this model as a means for investigating therapeutic approaches targeting the more aggressive and surgically unresectable tumor border.

PMID:37752585 | DOI:10.1186/s12967-023-04531-7

BJS Open. 2023 Sep 5;7(5):zrad094. doi: 10.1093/bjsopen/zrad094.

ABSTRACT

BACKGROUND: Groove pancreatitis is a focal form of chronic pancreatitis affecting the area of the paraduodenal groove. The aim of this systematic review was to assess the clinical presentation, diagnosis and treatment of patients with groove pancreatitis.

METHODS: Medical literature databases (Embase, Medline via PubMed and Cochrane Central Register of Controlled Trials) were systematically searched for data recorded between 1 January 1990 and 31 August 2022 regarding patient characteristics, diagnosis, surgical treatment and outcomes. The following inclusion criteria were applied: RCTs, observational studies (cohort and case-control studies) and case studies with >3 cases including patients with groove pancreatitis undergoing medical, endoscopic or surgical treatment with available clinical and diagnostic data. Fisher's exact test for binary data and Mann-Whitney U test or Student t-test for continuous data were adopted for statistical analysis.

RESULTS: Of 649 studies, 44 were included, involving reports on 1404 patients with a mean age of 49 years. In 41 of the 44 studies in which patient gender was described, 86 per cent (N = 1023) of patients were male. Information on the risk factors of alcohol and nicotine was available in 37 and 23 studies, respectively. Seventy-nine per cent (N = 886) of patients had a history of excessive alcohol consumption and 83 per cent (N = 595) were smokers. Information on clinical symptoms was available in 37 of the 44 included studies and 78.5 per cent (N = 870) presented with abdominal pain. Some 27 studies comprising 920 groove pancreatitis patients were treatment oriented. Seventy-four per cent (N = 682) of patients were treated conservatively, 26.4 per cent (N = 134) underwent endoscopic treatment and 54.7 per cent (N = 503) required surgery. There was complete relief of symptoms in 35.6 per cent (N = 243) after conservative treatment, 55.2 per cent (N = 74) after endoscopic treatment and 69.6 per cent (N = 350) after surgical treatment. The median follow-up time was 42 months (range, 1-161 months).

CONCLUSION: Groove pancreatitis shows on imaging a typical triad: cystic lesions in the pancreatic duct or duodenal wall, calcifications, and thickenings of the duodenal wall. Surgery appears to be the most effective treatment modality.

PMID:37749756 | PMC:PMC10519812 | DOI:10.1093/bjsopen/zrad094

Orphanet J Rare Dis. 2023 Sep 25;18(1):301. doi: 10.1186/s13023-023-02876-2.

ABSTRACT

BACKGROUND: Glioblastoma (GBM) is the most aggressive and common malignant primary brain tumor; however, treatment remains a significant challenge. This study aims to identify drug repurposing or repositioning candidates for GBM by developing an integrative rare disease profile network containing heterogeneous types of biomedical data.

METHODS: We developed a Glioblastoma-based Biomedical Profile Network (GBPN) by extracting and integrating biomedical information pertinent to GBM-related diseases from the NCATS GARD Knowledge Graph (NGKG). We further clustered the GBPN based on modularity classes which resulted in multiple focused subgraphs, named mc_GBPN. We then identified high-influence nodes by performing network analysis over the mc_GBPN and validated those nodes that could be potential drug repurposing or repositioning candidates for GBM.

RESULTS: We developed the GBPN with 1,466 nodes and 107,423 edges and consequently the mc_GBPN with forty-one modularity classes. A list of the ten most influential nodes were identified from the mc_GBPN. These notably include Riluzole, stem cell therapy, cannabidiol, and VK-0214, with proven evidence for treating GBM.

CONCLUSION: Our GBM-targeted network analysis allowed us to effectively identify potential candidates for drug repurposing or repositioning. Further validation will be conducted by using other different types of biomedical and clinical data and biological experiments. The findings could lead to less invasive treatments for glioblastoma while significantly reducing research costs by shortening the drug development timeline. Furthermore, this workflow can be extended to other disease areas.

PMID:37749605 | PMC:PMC10519087 | DOI:10.1186/s13023-023-02876-2

Orphanet J Rare Dis. 2023 Sep 22;18(1):299. doi: 10.1186/s13023-023-02909-w.

ABSTRACT

For the development of a test treatment or drug product, it is necessary to conduct composite hypothesis testing to test for effectiveness and safety simultaneously, since some approved drug products have been recalled due to safety concerns. One of the major issues in conducting a composite hypothesis testing for effectiveness and safety is the requirement of a huge sample size to achieve the desired power for detecting clinically meaningful differences in both safety and effectiveness. Situation can be much difficult in orphan drug development. In this article, a generalized two-stage innovative approach to test for effectiveness and safety simultaneously is proposed. Additionally, to alleviate the requirement of a large randomized clinical trial (RCT) and revealing effectiveness, real-world data is suggested to use in conjunction with RCT data for orphan drug development. The proposed approach can help investigators test for effectiveness and safety at the same time without worrying about the sample size. It also helps reduce the probability of approving a drug product with safety concerns.

PMID:37740206 | PMC:PMC10517458 | DOI:10.1186/s13023-023-02909-w

Dis Model Mech. 2023 Sep 1;16(9):dmm050495. doi: 10.1242/dmm.050495. Epub 2023 Sep 22.

NO ABSTRACT

PMID:37737037 | DOI:10.1242/dmm.050495

Tomography. 2023 Sep 4;9(5):1694-1710. doi: 10.3390/tomography9050135.

ABSTRACT

Anal cancer is a rare disease, but its incidence has been increasing steadily. Primary staging and assessment after chemoradiation therapy are commonly performed using MRI, which is considered to be the preferred imaging modality. CT and PET/CT are useful in evaluating lymph node metastases and distant metastatic disease. Anal squamous-cell carcinoma (ASCC) and rectal adenocarcinoma are typically indistinguishable on MRI, and a biopsy prior to imaging is necessary to accurately stage the tumor and determine the treatment approach. This review discusses the histology, MR technique, diagnosis, staging, and treatment of anal cancer, with a particular focus on the differences in TNM staging between anal and rectal carcinomas.

PURPOSE: This review discusses the histology, MR technique, diagnosis, staging, and treatment of anal cancer, with a particular focus on the differences in TNM staging between anal squamous-cell carcinoma (ASCC) and rectal adenocarcinoma.

METHODS AND MATERIALS: To conduct this updated review, a comprehensive literature search was performed using prominent medical databases, including PubMed and Embase. The search was limited to articles published within the last 10 years (2013-2023) to ensure their relevance to the current state of knowledge.

INCLUSION CRITERIA: (1) articles that provided substantial information on the diagnostic techniques used for ASCC, mainly focusing on imaging, were included; (2) studies reporting on emerging technologies; (3) English-language articles.

EXCLUSION CRITERIA: articles that did not meet the inclusion criteria, case reports, or articles with insufficient data. The primary outcome of this review is to assess the accuracy and efficacy of different diagnostic modalities, including CT, MRI, and PET, in diagnosing ASCC. The secondary outcomes are as follows: (1) to identify any advancements or innovations in diagnostic techniques for ASCC over the past decade; (2) to highlight the challenges and limitations of the diagnostic process.

RESULTS: ASCC is a rare disease; however, its incidence has been steadily increasing. Primary staging and assessment after chemoradiation therapy are commonly performed using MRI, which is considered to be the preferred imaging modality. CT and PET/CT are useful in evaluating lymph node metastases and distant metastatic disease.

CONCLUSION: ASCC and rectal adenocarcinoma are the most common histological subtypes and are typically indistinguishable on MRI; therefore, a biopsy prior to imaging is necessary to stage the tumor accurately and determine the treatment approach.

PMID:37736988 | PMC:PMC10514831 | DOI:10.3390/tomography9050135

Oncologist. 2023 Sep 20:oyad263. doi: 10.1093/oncolo/oyad263. Online ahead of print.

ABSTRACT

Appendiceal cancer is a rare, orphan disease with no therapies currently approved by the FDA for its treatment. Given the limited data regarding drug efficacy, these tumors have historically been treated with chemotherapy designed for colon cancer. However, an overwhelming body of molecular data has demonstrated that appendiceal adenocarcinoma is a distinct entity with key molecular differences from colon cancer, notably rare APC mutation. Recognizing that APC loss-of-function is thought to contribute to taxane resistance and that taxanes are effective in the treatment of other gastrointestinal tumors, including gastric, esophageal, and small bowel adenocarcinoma, we completed a single-center retrospective study to assess efficacy. In a cohort of 13 patients with metastatic appendiceal adenocarcinoma, treated with taxane chemotherapy the median overall survival was 8.8 months. Of 10 evaluable patients, we observed 3 responses, 4 patients with stable disease, and 3 with progression (30% response rate, 70% disease control rate). The results of this study showing activity of taxane-based chemotherapy in appendiceal adenocarcinoma support further clinical investigation of taxane therapy in this orphan disease.

PMID:37738316 | DOI:10.1093/oncolo/oyad263

Cas Lek Cesk. 2023 Summer;162(4):136-147.

ABSTRACT

Hypoparathyroidism is a rare endocrine disease caused by an absence or insufficient production of parathormone. Parathormone deficiency leads to lower serum calcium concentration that is responsible for patients' neuromuscular symptoms. Conventional treatment consists of calcium and active vitamin D metabolites administration but doesn't constitute an adequate substitution of missing parathormone. Although the treatment substantially alleviates patients' troubles, chronic complications may develop because of hyperphosphatemia and conventional medication. Solution to this resides in recombinant parathormone administration, however the only one drug available is being now recalled from the market. The mainstay of hypoparathyroidism prevention is the judicious indication of total thyroidectomy representing the main cause of the disease.

PMID:37734939

Hum Genet. 2023 Nov;142(11):1561-1569. doi: 10.1007/s00439-023-02592-8. Epub 2023 Sep 20.

ABSTRACT

Exome and genome sequencing (ES/GS) in genetic medicine and research leads to discovering genomic secondary findings (SFs) unrelated to the purpose of the primary test. There is a lack of agreement to return the SF results for individuals undergoing the test. The aim of this study is to investigate the frequency of actionable secondary findings using GS data obtained from the rare disease study and the Korean Genome and Epidemiology Study (KoGES) in the National Project of Bio Big Data pilot study. Pathogenic (P) or likely pathogenic (LP) variants of 78 SF genes recommended by the American College of Medical Genetics and Genomics (ACMG) were screened in the rare disease study and KoGES. The pathogenicity of SF gene variants was determined according to the ACMG interpretation. The overall SF rate was 3.75% for 280 individuals with 298 P/LP variants of 41 ACMG SF genes which were identified among 7472 study participants. The frequencies of genes associated with cardiovascular, cancer, and miscellaneous phenotypes were 2.17%, 1.22%, and 0.58%, respectively. The most frequent SF gene was TTN followed by BRCA2. The frequency of actionable SFs among participants with rare disease and general population participants in the Korean population presented here will assist in reporting results of medically actionable SFs in genomic medicine.

PMID:37728764 | DOI:10.1007/s00439-023-02592-8

Pol J Pathol. 2023;74(2):141-143. doi: 10.5114/pjp.2023.128787.

ABSTRACT

Ectopic mammary gland tissue in the vulva is an exceptionally rare disease. We present a case of a 62-year-old woman with a left vulvar mass of 30 years duration that progressively increased in size. The patient reported having pressure and discomfort, especially during movement. Surgical excision was performed, and a histopathological examination revealed a well-differentiated ectopic breast. We also review other cases of vulvar ectopic breast to further comprehend the characteristics of this rare disease. Clinicians and pathologists should always consider it as a differential diagnosis when presented with a vulvar mass.

PMID:37728473 | DOI:10.5114/pjp.2023.128787

Am J Case Rep. 2023 Sep 20;24:e940990. doi: 10.12659/AJCR.940990.

ABSTRACT

BACKGROUND Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic vasculitic condition characterized by bronchial asthma and eosinophilia. While biliary involvement is uncommon in EGPA, we present a unique case of EGPA presenting as steroid-responsive sclerosing cholangitis and cholecystitis. This case highlights the importance of considering EGPA in the differential diagnosis of biliary diseases, especially in patients with a history of bronchial asthma. CASE REPORT A 47-year-old man with a history of bronchial asthma presented with fatigue, weight loss, and epigastralgia. Blood tests revealed eosinophilia and elevated inflammatory markers, leading to the diagnosis of EGPA. Further imaging studies, including magnetic resonance cholangiopancreatography and contrast-enhanced computed tomography, confirmed the presence of sclerosing cholangitis and cholecystitis, a rare manifestation of EGPA. CONCLUSIONS Prompt treatment with prednisolone and azathioprine resulted in remission of symptoms and resolution of cholangitis and cholecystitis in this case. Our findings emphasize the importance of early recognition and appropriate management of EGPA-associated biliary involvement. Increased awareness of this rare manifestation may facilitate timely diagnosis and improve patient outcomes.

PMID:37726949 | DOI:10.12659/AJCR.940990

BMJ Case Rep. 2023 Sep 18;16(9):e252667. doi: 10.1136/bcr-2022-252667.

ABSTRACT

Pycnodysostosis is a rare genetic condition that leads to generalised bony sclerosis and increased fracture risk. Orthopaedic specialists play a crucial role in managing affected children due to their susceptibility to frequent fractures. We had a case of a middle childhood female patient with pycnodysostosis and a femur fracture. Initially, an attempt using the Titanium Elastic Nailing System was made, but the sclerotic metaphyseal bone made it challenging. So, we opted for a 4.5 mm locked compressive plate, with multiple drill bits as a backup due to potential drill breakage. Though elastic nailing is preferred for paediatric long bone fractures, surgeons must be prepared for extremely sclerotic cortices and a narrow medullary canal when dealing with patients with pycnodysostosis. Open fixation and multiple drill bits in the toolkit are essential to overcome the potential obstacles during the procedure.

PMID:37723084 | DOI:10.1136/bcr-2022-252667

Mol Genet Metab. 2023 Aug 30;140(3):107693. doi: 10.1016/j.ymgme.2023.107693. Online ahead of print.

ABSTRACT

Newborn screening (NBS) began a revolution in the management of biochemical genetic diseases, greatly increasing the number of patients for whom dietary therapy would be beneficial in preventing complications in phenylketonuria as well as in a few similar disorders. The advent of next generation sequencing and expansion of NBS have markedly increased the number of biochemical genetic diseases as well as the number of patients identified each year. With the avalanche of new and proposed therapies, a second wave of options for the treatment of biochemical genetic disorders has emerged. These therapies range from simple substrate reduction to enzyme replacement, and now ex vivo gene therapy with autologous cell transplantation. In some instances, it may be optimal to introduce nucleic acid therapy during the prenatal period to avoid fetopathy. However, as with any new therapy, complications may occur. It is important for physicians and other caregivers, along with ethicists, to determine what new therapies might be beneficial to the patient, and which therapies have to be avoided for those individuals who have less severe problems and for which standard treatments are available. The purpose of this review is to discuss the "Standard" treatment plans that have been in place for many years and to identify the newest and upcoming therapies, to assist the physician and other healthcare workers in making the right decisions regarding the initiation of both the "Standard" and new therapies. We have utilized several diseases to illustrate the applications of these different modalities and discussed for which disorders they may be suitable. The future is bright, but optimal care of the patient, including and especially the newborn infant, requires a deep knowledge of the disease process and careful consideration of the necessary treatment plan, not just based on the different genetic defects but also with regards to different variants within a gene itself.

PMID:37716025 | DOI:10.1016/j.ymgme.2023.107693

Medicina (B Aires). 2023 Sep;83 Suppl 4:52-56.

ABSTRACT

Rare diseases and undiagnosed diseases have recently positioned themselves as clinical entities that provide important opportunities to advance our understanding of gene functions and the impact of them in the individual development. In this review, we present how efforts made over years to understand common diseases, rare diseases and even undiagnosed diseases come together today to cooperatively advances scientific knowledge. These advance in science and new acquired knowledge, make possible to apply the advances obtained in a group of clinical conditions to others with similar phenotypic characteristics or vice versa. The cooperative work of multidisciplinary teams and the communication between clinicians and researchers have and will provide opportunities for better treatments for patients and families across multiple common and rare diseases.

PMID:37714123