Targeted therapy for small cell carcinoma of prostate: a case report / 中华泌尿外科杂志

A patient aged 68 years old presented urinary frequency, urgency, and gross hematuria for 1 month, with initial PSA of 72.72 ng/ml and alkaline phosphatase (ALP)of 114 U/L. Prostate biopsy pathology showed small cell neuroendocrine carcinoma of prostate. The patient was immediately administered 6 cycle of chemotherapy including etoposide and cisplatin combined with medical castration. The CDK4 gene was detected 1.99 times amplification by peripheral blood free DNA (cfDNA)gene analysis. The chemotherapy was followed by parbosini therapy. The number and density of bone metastases continued to decrease significantly by bone scan at 3 and 6 months after treatment, with a continuous decline of ALP and PSA. After 1 year of follow-up, pelvic MRI and bone systemic imaging indicated stable lesions, with PSA of 0.05 ng/ml and ALP of 59 U/L.

Modelagem farmacocinética/farmacodinâmica do florfenicol para o tratamento da adenite equina por meio da simulação de Monte Carlo / Pharmacokinetic/pharmacodynamic modeling of florfenicol for the treatment of equine adenitis using Monte Carlo simulation

O objetivo deste trabalho foi avaliar a eficácia do florfenicol na dose usualmente empregada em equinos de 22 mg/kg pelas vias intravenosa, intramuscular e oral para o tratamento de adenite equina por Streptococcus equi. subsp. equi, usando a modelagem farmacocinética/farmacodinâmica (PK/PD – Pharmacokinetic/Pharmacodynamic) e a simulação de Monte Carlo. Foi realizada uma simulação de Monte Carlo a partir dos parâmetros PK, logo depois, efetuou-se a modelagem PK/PD para determinar as taxas de eficácia do antimicrobiano para o tratamento dessa infecção bacteriana, de acordo com o valor da concentração inibitória mínima (CIM), em um intervalo de CIM de 0,125 – 4 μg/mL. Pela via intravenosa, a probabilidade de erradicação bacteriana foi de 100% para CIM até 0,5 μg/mL e efeito bacteriostático com probabilidades de 99% e 80% para CIMs de 2 e 4 μg/mL, respectivamente. Já pelas vias intramuscular e oral a probabilidade de se atingir o índice de erradicação bacteriológica foi de 100% para CIM de até 0,5 μg/mL, contudo, atinge valores de 80% e 81%, respectivamente, para CIM de 1 μg/mL considerando o efeito bactericida (p<0,01). Portanto, através desse estudo é evidenciado a eficácia do florfenicol até a CIM de 0,5 μg/mL para as três vias de administração citadas, entretanto, para CIMs superiores a esse valor, é imprescindível o ajuste da dose farmacológica, evitando falhas na terapêutica e possível resistência microbiana.

The objective of this study was to evaluate the efficacy of florfenicol at the dose usually used in horses of 22 mg/kg by intravenous, intramuscular and oral routes for the treatment of equine adenitis caused by Streptococcus equi. subsp. equi, using Pharmacokinetic/Pharmacodynamic (PK/PD) modeling and Monte Carlo simulation. A Monte Carlo simulation was performed from the PK parameters, then PK/PD modeling was performed to determine the antimicrobial efficacy rates for the treatment of this bacterial infection, according to the minimum inhibitory concentration (MIC) value, in a MIC range of 0.125 - 4 μg/mL. Intravenously, the probability of bacterial eradication was 100% for MICs up to 0.5 μg/mL, and the bacteriostatic effect was 99% and 80% for MICs of 2 and 4 μg/mL, respectively. However, for the intramuscular and oral routes, the probability of reaching the bacteriologic eradication index was 100% for MICs of up to 0.5 μg/mL, however, it reaches values of 80% and 81%, respectively, for MICs of 1 μg/mL considering the bactericidal effect (p<0.01). Therefore, through this study the efficacy of florfenicol is evidenced up to the MIC of 0.5 μg/mL for the three routes of administration cited, however, for MICs higher than this value, it is essential to adjust the pharmacological dose, avoiding failures in therapy and possible microbial resistance.

Modelagem farmacocinética/farmacodinâmica do florfenicol para o tratamento da adenite equina por meio da simulação de Monte Carlo / Pharmacokinetic/pharmacodynamic modeling of florfenicol for the treatment of equine adenitis using Monte Carlo simulation

O objetivo deste trabalho foi avaliar a eficácia do florfenicol na dose usualmente empregada em equinos de 22 mg/kg pelas vias intravenosa, intramuscular e oral para o tratamento de adenite equina por Streptococcus equi. subsp. equi, usando a modelagem farmacocinética/farmacodinâmica (PK/PD ­ Pharmacokinetic/Pharmacodynamic) e a simulação de Monte Carlo. Foi realizada uma simulação de Monte Carlo a partir dos parâmetros PK, logo depois, efetuou-se a modelagem PK/PD para determinar as taxas de eficácia do antimicrobiano para o tratamento dessa infecção bacteriana, de acordo com o valor da concentração inibitória mínima (CIM), em um intervalo de CIM de 0,125 ­ 4 µg/mL. Pela via intravenosa, a probabilidade de erradicação bacteriana foi de 100% para CIM até 0,5 µg/mL e efeito bacteriostático com probabilidades de 99% e 80% para CIMs de 2 e 4 µg/mL, respectivamente. Já pelas vias intramuscular e oral a probabilidade de se atingir o índice de erradicação bacteriológica foi de 100% para CIM de até 0,5 µg/mL, contudo, atinge valores de 80% e 81%, respectivamente, para CIM de 1 µg/mL considerando o efeito bactericida (p<0,01). Portanto, através desse estudo é evidenciado a eficácia do florfenicol até a CIM de 0,5 µg/mL para as três vias de administração citadas, entretanto, para CIMs superiores a esse valor, é imprescindível o ajuste da dose farmacológica, evitando falhas na terapêutica e possível resistência microbiana.

The objective of this study was to evaluate the efficacy of florfenicol at the dose usually used in horses of 22 mg/kg by intravenous, intramuscular and oral routes for the treatment of equine adenitis caused by Streptococcus equi. subsp. equi, using Pharmacokinetic/Pharmacodynamic (PK/PD) modeling and Monte Carlo simulation. A Monte Carlo simulation was performed from the PK parameters, then PK/PD modeling was performed to determine the antimicrobial efficacy rates for the treatment of this bacterial infection, according to the minimum inhibitory concentration (MIC) value, in a MIC range of 0.125 - 4 µg/mL. Intravenously, the probability of bacterial eradication was 100% for MICs up to 0.5 µg/mL, and the bacteriostatic effect was 99% and 80% for MICs of 2 and 4 µg/mL, respectively. However, for the intramuscular and oral routes, the probability of reaching the bacteriologic eradication index was 100% for MICs of up to 0.5 µg/mL, however, it reaches values of 80% and 81%, respectively, for MICs of 1 µg/mL considering the bactericidal effect (p<0.01). Therefore, through this study the efficacy of florfenicol is evidenced up to the MIC of 0.5 µg/mL for the three routes of administration cited, however, for MICs higher than this value, it is essential to adjust the pharmacological dose, avoiding failures in therapy and possible microbial resistance.

Experimental study of individualized 3D printing-guided template combined with thoracolumbar pedicle screw placement for the treatment of ankylosing spondylitis / 中国骨伤

OBJECTIVE@#To evaluate accuracy and safety of individualized 3D printing guided template for thoracolumbar pedicle screw placement in patients with ankylosing spondylitis.@*METHODS@#From January 2016 to September 2019, thoracolumbar spine three-dimensional CT data of 8 patients with ankylosing spondylitis were included, Mimics 17.0 and ideaMaker computer software were applied to design thoracolumbar pedicle screw guided template of patients with AS, physical model of all patients (T-L)were printed by 3D printer, 2 parts in each patient, and divided into guide-plate-assisted screw group (experimental group) and free-hand nail group (control group). Thoracolumbar pedicle screws of both groups were placed by the same spinal surgeon. The accuracy of pedicle screw placement between two groups were evaluated according to results of postoperative CT, the accuracy of the fixation of thoracolumbar pedicle screw was divided into 4 grades, grade 0 and 1 screws were acceptable nails, grade 2 and 3 screws were unacceptable nails. The diameter and length of pedicle screws, the distance between entry point and posterior median line designed by preoperative 3D printing were compared with actual use in operation.@*RESULTS@#Twenty three blocks of thoracolumbar 3D printing screw of ankylosing spondylitis guided templates were designed and printed in guide-plate-assisted screw group, 46 screws were inserted and 44 screws were accepted. The time of implanting a screw into thoracolumbar pedicle was (4.20±1.15) min, the frequency of X-ray was (5.00±1.25) times and the average adjustment times of screw and Kirschner needle during screw placement was (1.76±1.32) times. In the control group, 46 nails were placed by traditional surgical method and 30 screws were accepted. The time of implanting a screw into thoracolumbar pedicle was (14.67±2.23) min, the frequency of X-ray fluoroscopy was (14.46±2.21) times and the average times of Kirschner needle adjustment was (4.76±3.39) times. The success rates between experimental group and control group were 95.65%(44 / 46) and 56.22%(30 / 46) respectively, and had statistical difference (χ=13.538, 0.05). The operation time of inserting a single screw, the times of X-ray fluoroscopy, and the average times of adjustment screw and Kirschner needle in experimental group were significant less than those in control group(<0.01).@*CONCLUSION@#The personalized guide template assisted the thoracolumbar fixation designed by 3D printing could significantly improve safety, accuracy and efficiency of surgery, especially suitable for thoracolumbar vertebral bodies requiring posterior pedicle screw fixation for fracture or dislocation with AS.

Personalized approach to growth hormone replacement in adults

ABSTRACT Growth hormone (GH) deficiency (GHD) in adults is well-characterized and includes abnormal body composition, reduced bone mass, an adverse cardiovascular risk profile, and impaired quality of life. In the early 1990s, it was also shown that patients with hypopituitarism without GH replacement therapy (GHRT) had excess mortality. Today, GHRT has been shown to decrease or reverse the negative effects of GHD. In addition, recent papers have shown that mortality and morbidity are approaching normal in hypopituitary patients with GHD who receive modern endocrine therapy including GHRT. Since the first dose-finding studies, it has been clear that efficacy and side effects differ substantially between patients. Many factors have been suggested as affecting responsiveness, such as sex, age, age at GHD onset, adherence, and GH receptor polymorphisms, with sex and sex steroid replacement having the greatest impact. Therefore, the individual tailoring of GH dose is of great importance to achieve sufficient efficacy without side effects. One group that stands out is women receiving oral estrogen replacement, who needs the highest dose. Serum insulin-like growth factor-1 (IGF-1) is still the most used biochemical biomarker for GH dose titration, although the best serum IGF-1 target is still debated. Patients with GHD due to acromegaly, Cushing's disease, or craniopharyngioma experience similar effects from GHRT as others. Arch Endocrinol Metab. 2019;63(6):592-600

The application and prospects of organoid technique in esophageal cancer research / 解放军医学杂志

Esophageal cancer is a common gastrointestinal tumor. The morbidity and mortality of esophageal cancer in China were 18.85/100,000 and 14.11/100,000, respectively. China is one of the regions with high incidence and high mortality of esophageal cancer in the world. Among them, esophageal squamous cell carcinoma is more common with difficult of early diagnosis. Therefore, there is a great space for research and exploration of early diagnosis and early treatment. Many factors restrict the research on the developing mechanism, drug discovery and screening as well as individualized treatment of esophageal cancer. The lack of an ideal tumor model is one of the important restrictive factors. Organoid is a novel product of 3D culture technology in vitro with the advantages of maintaining the structure, function, genome and drug sensitivity of in situ tissue, and is an excellent tumor research model with such advantages as easy to be operated, relatively low cost, and can be used in conjunction with other advanced technologies. Therefore, esophageal cancer organoid has gradually gained the attention of the academic world, and is expected to be widely used in the field of esophageal cancer research. The present review focuses on the applications and prospects of organoid in the research of esophageal cancer.

Clinical applications of 3D printing individualized guide template in the spinal surgery / 国际外科学杂志

With the introduction and development of the concept of precision surgery,3D printing individualized guide template has been gradually applied in the field of spinal surgery because of its advantages of increasing surgical precision,reducing the difficulty and risk of surgery,reducing the operation time,and reducing the intraoperative transmission dose,etc..Individualized guide plates designed and manufactured according to the patient~ surgical site,self-conditions and individual differences before surgery can accurately restore the preoperative design during surgery to meet the needs of modernized spine surgery for individualization and precision.Individualized guide template has great guiding significance for complex spinal surgery.This article reviews the current clinical application of 3D printing individualized guide template in spine surgery,summarizes its produce principles and procedures,advantages and limits,and make prospect for it's future applications.

Usefulness of Pharmacogenetic Analysis in Psychiatric Clinical Practice: A Case Report

There are many factors involved in the effectiveness and efficiency of psychiatric drug treatment. One of them is psychotropic drug metabolism, which takes place mostly in the liver through the P450 enzyme system. However, there are genotypic variants of this system’s enzymes that can directly affect both the efficacy and the onset of side effects of a given therapeutic regimen. These genotypic changes could partly explain the lack of efficacy of treatment in certain patients. We report the case of a patient diagnosed with bipolar type I disorder that presented multiple and frequent manic episodes in which the efficacy and tolerability of several pharmacological regimens with mood stabilizers and antipsychotics was scarce. The choice of medical treatment should be based on its efficacy and side effect profile. This decision can be made more accurately using the information provided by pharmacogenetic analysis. This case illustrates the importance of pharmacogenetic studies in clinical practice. The results of pharmacogenetic analysis helped to decide on a better treatment plan to achieve clinical improvement and reduce drug-induced adverse effects.

Biological characteristics and treatment progress of splenic and nodal marginal zone lymphoma in indolent lymphoma / 白血病·淋巴瘤

Splenic marginal zone lymphoma (SMZL) and nodal marginal zone lymphoma (NMZL) are rare indolent chronic B-cell lymphomas. Clinical research has made a great progress thanks to the developments of genomic studies and a large number of overlapping mutational profiles involving NOTCH, BCR and nuclear factor κB (NF-κB) signaling, chromatin remodeling, and the cytoskeleton. This paper reviews the recent progress of biological characteristics and treatment progress of SMZL and NMZL in indolent lymphoma combined with the 59th American Society of Hematology (ASH) Annual Meeting.

Case-based learning: individualized treatment and comprehensive management for early diabetic kidney disease / 中华全科医师杂志

Diabetic kidney disease (DKD) is a common microvasscular complication in diabetic patients.It is necessary for general practitioner to recognize the early DKD,and give individualized treatment and comprehensive management.This article presents a patient with diabetic kidney disease,to whom individualized treatment and comprehensive management were given.Hopefully the case-based learning would help general practitioners to early recognize DKD and to give timely treatment and effective control of diabetic nephropathy.

The establishment of a decision tree model for the individualized treatment of spinal metastases based on RPA / 中华骨科杂志

Objective To evaluate the prognostic factors of spinal metastases by recursive partitioning analysis (RPA)and establish a decision tree model that can guide clinicians to select individualized treatment.Methods Between January 2011 and December 2015,three institutional databases were searched to identify 169 patients with metastatic spinal tumors underwent surgery.The ratio of male and female was 1.48:1 (102 males and 67 females).The average age was 59.2±11.1 years.One-hundred eighteen cases of patients were randomly selected as training samples and the remaining 51 cases were verified samples.Preoperative factors were collected and analyzed by RPA methods,including primary tumor,KPS score,Frankel grade,gender,age,visceral metastasis,bone metastasis,spinal metastasis,blood glucose,blood pressure,surgery site,symptoms,surgery interval,serum albumin level and other risk factors.Pearson's Chi-square test was performed to judge the segmentation point of the decision tree model.The decision tree model is built using the Chi-square automatic interaction detector (CHIAD) algorithm and sensitivity and specificity was automatically calculated.Results The median postoperative survival time was 12.6±1.2 months [95％CI(10.1,15.0)].70％ were randomly selected as the experimental group (118 cases),and 30％ were the verification group (51 cases).The sensitivity was 96.9％.The specificity was 89.8％.The Kappa coefficient was 0.874 in the experimental group.The sensitivity was 95.4％.The specificity was 90.8％.The Kappa coefficient was 0.810 in the test group.The prognostic factors (weight from high to low) based on RPA were Frankel grade (F=8.132,P=0.005),the primary tumor and the KPS score (Equal,F=9.871,P=0.000 and F=1 1.945,P=0.003),serum albumin and movement time (Equal,F=7.566,P=0.018 and F=9.966,P=0.008).The decision tree model consists of 7 types.Survival time was 51 months,18 months,13 months,8 months,4 months,5 months,9 months in the class Ⅰ～Ⅶ,respectively.According to the difference of RPA survival time,the operation was classified as 3 grade.Total spinal resection was regarded as grade 1,including class Ⅰ and class Ⅱ,with an average survival time of over 18 months.Limited operation was regarded as grade 2,including class Ⅲ,Ⅴ and Ⅶ with survival time in 6-18 months.The conservative treatment was regarded as grade 3,including class Ⅳ and Ⅵ with the survival time was less than 6 months.Conclusion The decision tree model based on RPA for predicting the survival time of spinal metastases can not only identify the prognostic factors,but also classify and grade various prognostic factors;the decision tree model is simple and can guide clinicians to choose the best surgical plan by predicting the survival time.

Modeling guidelines and latest applications of patient-derived xenograft models / 国际外科学杂志

Tumor models are required to keep the most original characteristics of the primary tumor in precision treatment.Patient-derived xenograft models are established when cancerous cells or tissues directly from patients'primary tumors are transplanted into immunodeficient mice to mimic human tumor biology in vivo,which have been widely used in cancer research.In this review,we initially summarize the methodology and its progress to create patient-derived xenograft models from three aspects including grafts,hosts and grafting regions,and then go over recent applications of patient-derived xenograft models in basic cancer research on the areas of tumorigenesis,metastasis and drug resistance and in translational medical research of tumor,such as exploring cancer biomarkers,screening anti-cancer drugs and personalized therapy for neoplasm.Finally,we propose the problems of patientderived xenograft,which must be solved urgently.

New era of individual laboratory diagnosis in infectious diseases is coming:the further exploration and clinical application of mass spectrometry / 中华检验医学杂志

Accurate diagnosis and treatment of infectious diseases are vital, in which rapid, efficient,precise and comprehensive laboratorial detection plays a crucial role.The emergence of mass spectrometry technique revolutionized the test for biomacromolecule in clinical laboratory.The contribution of matrix-assisted laser desorption/ionization time of flight mass spectrometry(MALDI -TOF MS)for laboratory diagnosis of infectious diseases was particularly significant.With the knowledge about the principles of MALDI-TOF MS and microbiology,it is not only able to allow you to have an insight into the details,but also help you to further develop and expand the application.Holographic mass spectrometry consists of, liquid chromatography -mass spectrometry(LC -MS)and gas chromatography -mass spectrometer(GC -MS)becomes a pipe dream.The combination of the three mass spectrometer technologies complement each others advantages,so that the application can be extended.They can not only accurately confirm the pathogens, but also detect the immune response products, metabolite and molecular markers of infectious diseases in order to obtain more comprehensive information of both pathogens and hosts, so that the laboratorial diagnosis can be more comprehensive, precise and individual.The application of holographic mass spectrometry breaks through the classic method and nucleic acid detection technology.It can not only embody speediness and accuracy, but also reflect the promotion of science level and research capability.

Understanding and implementing of individualized quality control plan / 中华检验医学杂志

Accurate results in clinical laboratory are extremely important for patient safety.Quality control is the effective method to control the quality of testing process and ensure the patient safety.With the development of detection technology, the concept of quality control has changed.Clinical Laboratory Standards Institute(CLSI)has established a committee to formulate guidelines for quality control plan based on risk management in the laboratory, using the technology of risk management to develop individualized quality control plan.This article will introduce the understanding and practice of individualized quality control plan.

Research and clinical application advances in the pharmacogenomics of warfarin / 中国医师进修杂志

Warfarin is widely used as an oral anticoagulant in clinic in China. It has narrow therapeutic index, large individual differences on dosage and the variability in warfarin dosage depends on many factors, including gene polymorphism, age, diet habits and so on. For clinicians, how to optimize the individual therapeutic regimen of warfarin is becoming a significant part of their work. In recent years, studies on genetic pharmacogenomics of warfarin are reported frequently. It is found that multiple gene polymorphisms can affect the efficacy of warfarin. We will introduce the gene polymorphism of some warfarin related genes and their effects on warfarin, and the advances of warfarin individual therapeutic regimen will also be discussed here.

Research and clinical application advances in the pharmacogenomics of warfarin / 中国医师进修杂志

Warfarin is widely used as an oral anticoagulant in clinic in China. It has narrow therapeutic index, large individual differences on dosage and the variability in warfarin dosage depends on many factors, including gene polymorphism, age, diet habits and so on. For clinicians, how to optimize the individual therapeutic regimen of warfarin is becoming a significant part of their work. In recent years, studies on genetic pharmacogenomics of warfarin are reported frequently. It is found that multiple gene polymorphisms can affect the efficacy of warfarin. We will introduce the gene polymorphism of some warfarin related genes and their effects on warfarin, and the advances of warfarin individual therapeutic regimen will also be discussed here.

Progress on individualized drug therapy for older men under the benign prostatic hyperplasia/urinary tract symptoms / 中华老年医学杂志

Lower urinary tract symptoms due to benign prostatic hyperplasia is of great prevalence among ageing males,and it can markedly affect patients' quality of life.Personalized drug therapy according to genetic characteristics is the ideal choice for this problem.Here we summarized the latest research findings on the associations of gene polymorphisms with drug efficacy and adverse reaction in the treatment of benign prostatic hyperplasia/urinary tract symptoms.

Clinical value of individualization portal for knee arthroscope meniscoplasty / 中国医师进修杂志

Objective To study the clinical application value of individualization portal for knee arthroscope meniscoplasty. Methods The clinical data of 100 patients who had underwent knee arthroscope meniscoplasty were retrospectively analyzed. In the patients, 50 cases were performed with routine portal (group A), and other 50 cases were performed with individualization portal (group B). The operation time, curative effect and incidence of complications were compared between 2 groups. Results The operation time in group B was significantly lower than that in group A:(28.8 ± 3.1) min vs. (39.5 ± 5.4) min, and there was statistical difference (t = 12.151, P0.05. The incidence of meniscus and cartilage injury in group B was significantly lower than that in group A: 2% (1/50) vs. 14% (7/50), and there was statistical difference (χ2 = 4.891, P0.05). There was no ligament injury, infection, vascular and nerve injury, deep vein thrombosis, instrumentation damage and synovial fistula. Conclusions The individualization portal for knee arthroscope meniscoplasty is more convenient. It can shorten operation time and decrease meniscus and cartilage injury. But it has no influence on clinical effect and other complications.

Individualized treatment of bilateral carotid body tumor / 中华耳鼻咽喉头颈外科杂志

Objective@#To investigate individualized therapeutic strategy for bilateral carotid body tumors.@*Methods@#Clinical data of 16 patients with bilateral carotid body tumor treated from January 2003 to August 2016 were retrospectively studied. Of the 16 patients, 9 were males and 7 were females; 5 were sporadic and 11 were familial; 8 cases were observed, 1 cases was malignant and treated with chemotherapy, and 7 cases were treated with surgery. The treatment course, perioperative complications and clinical efficacy were assessed. Comprehensive evaluation of bilateral carotid body tumors was performed based on the size of bilateral tumor, clinical manifestations, genetic tests and other indicators. Individual treatment strategies included observation, surgery and observation, bilateral surgery, radiotherapy or chemotherapy. Surgical resection of carotid body tumor was unilateral in 3 cases and bilateral in 3 cases; removal of bilateral carotid body tumors plus unilateral jugular bulb in 1 case; and the internal carotid artery was reconstructed with autologous greater saphenous vein in 1 case.@*Results@#All patients were followed up for 3 months to 12 years. There was no patient death during perioperative period. Superior laryngeal nerve injury occurred in 2 case. Baroreceptor failure syndrome occurred in one patient, but it gradually recoverd with medical treatments.@*Conlusion@#It is important to identify whether bilateral carotid body tumors are hereditary and to make an individualized therapeutic strategy for each patient with bilateral carotid body tumors, focusing on the improvement in the quality of life of patient.

RP research in the era of precision medicine:discovery to translation / 中华实验眼科杂志

Retinitis pigmentosa (RP) encompasses many different hereditary retinal degenerations that are caused by a vast array of different gene mutations and have highly variable disease presentations and severities.Work over the past 25 years has resulted in the identification of genes responsible for about 50％ of the RP cases,and it's predicted that most of the remaining disease-causing genes will be identified by the year 2020 or most likelysooner.This marked acceleration is the result of dramatic improvements in DNA-sequencing technologies and the associated analysis.The advent of two recent innovations, induced pluripotent stem cells (iPSCs) and clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated nuclease-9 (Cas-9) mediated genome editing,are changing the landscape of RP research, with causative genes being identified at an accelerated rate withgreat potential to translate these discoveries into personalized therapeutic strategies.