Pluripotent stem cells in neural differentiation:characterization and potential:The establishment and use of pluripotent stem cells(PSCs),including embryonic(ESCs)and induced(iPSCs),constitutes a major scientific brea...Pluripotent stem cells in neural differentiation:characterization and potential:The establishment and use of pluripotent stem cells(PSCs),including embryonic(ESCs)and induced(iPSCs),constitutes a major scientific breakthrough of the last decades.Human PSCs hold the potential to deliver regenerative therapies in many diseases,including neurological ones.The general approach is to produce functioning human neurons and glial cells in vitro,to be later implanted in the diseased nervous system,replacing dysfunctional or dead cells.In addition,human and other animal-sourced PSCs make useful and dynamic in vitro models for neurodevelopmental,neurodegenerative and psychiatric disorders,enabling researchers to continuously produce normal and diseased neurons to investigate basic mechanistic questions,which can eventually lead to new therapeutics.Therefore,the development of efficient protocols to induce neural differentiation in ESCs and iPSCs is currently a major effort in the field(Mertens et al.,2016).展开更多
AIM:To make comprehensive molecular diagnosis for retinitis pigmentosa(RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology.METHODS:A five-generation...AIM:To make comprehensive molecular diagnosis for retinitis pigmentosa(RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology.METHODS:A five-generation Han Chinese family diagnosed as non-syndromic X-linked recessive RP(XLRP) was recruited, including four affected males, four obligate female carriers and eleven unaffected family members. Capture-NGS was performed using a custom designed capture panel covers 163 known retinal disease genes including 47 RP genes, followed by the validation of detected mutation using Sanger sequencing in all recruited family members.RESULTS:Capture-NGS in one affected 47-year-old male reveals a novel mutation, c.2417_2418insG:p.E806 fs,in exon ORF15 of RP GTPase regulator(RPGR) gene results in a frameshift change that results in a premature stop codon and a truncated protein product. The mutation was further validated in three of four affected males and two of four female carriers but not in the other unaffected family members.CONCLUSION:We have identified a novel mutation,c.2417_2418insG:p.E806 fs, in a Han Chinese family with XLRP. Our findings expand the mutation spectrum of RPGR and the phenotypic spectrum of XLRP in Han Chinese families, and confirms Capture-NGS could be aneffective and economic approach for the comprehensive molecular diagnosis of RP.展开更多
Ethical principles form a bedrock to medical practice in any specialty,guiding physicians to appropriate attitudes and behaviors.A formal ethics curriculum can be difficult to generate de novo in an ophthalmology trai...Ethical principles form a bedrock to medical practice in any specialty,guiding physicians to appropriate attitudes and behaviors.A formal ethics curriculum can be difficult to generate de novo in an ophthalmology training program.A number of barriers exist in most ophthalmology departments:trainees may think ethics is of secondary importance compared to core basic and clinical science topics;most ophthalmology faculty have no formal degree in medical ethics;there is limited didactic time with competing academic,clinical,and surgical priorities;work-hours regulations may limit the time available to deliver“para-professional”lectures;and there is a belief that the medical ethics lectures during medical school is a sufficient amount of coursework to last through a physician’s career with no need for continuing professional development.The four pillars of medical ethics are beneficence,non-maleficence,autonomy,and justice.In addition,morals,ethics,and professionalism are important aspects of sound medical practice.A curriculum specific to medical ethics in ophthalmology can be developed in any of our sub-specialties and include lectures,curated readings,case rounds,and clinic wrap-up sessions.Ethical considerations are part of everyday clinical practice,and a structured ethics curriculum can be incorporated into ophthalmology training programs.The concept of backward design can be used to structure the curriculum,starting with the expected outcome,then designing authentic assessments,and finally putting together a learning plan that has students actively involved in ethical discussions.This paper will provide a guide to developing an ethics curriculum for an ophthalmology training program utilizing the concept of backwards design and guide the reader through the process of developing expected learning outcomes,authentic assessments,and a unified learning plan.展开更多
基金supported by an unrestricted grant to the University of Rochester’s Department of Ophthalmology from the Research to Prevent Blindness Foundation
文摘Pluripotent stem cells in neural differentiation:characterization and potential:The establishment and use of pluripotent stem cells(PSCs),including embryonic(ESCs)and induced(iPSCs),constitutes a major scientific breakthrough of the last decades.Human PSCs hold the potential to deliver regenerative therapies in many diseases,including neurological ones.The general approach is to produce functioning human neurons and glial cells in vitro,to be later implanted in the diseased nervous system,replacing dysfunctional or dead cells.In addition,human and other animal-sourced PSCs make useful and dynamic in vitro models for neurodevelopmental,neurodegenerative and psychiatric disorders,enabling researchers to continuously produce normal and diseased neurons to investigate basic mechanistic questions,which can eventually lead to new therapeutics.Therefore,the development of efficient protocols to induce neural differentiation in ESCs and iPSCs is currently a major effort in the field(Mertens et al.,2016).
基金Supported by National Natural Science Foundation of China(No.8106008181241124 and81360155)the Research to Prevent Blindness Challenge Grant to the Department of Ophthalmology at the University of Rochester
文摘AIM:To make comprehensive molecular diagnosis for retinitis pigmentosa(RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology.METHODS:A five-generation Han Chinese family diagnosed as non-syndromic X-linked recessive RP(XLRP) was recruited, including four affected males, four obligate female carriers and eleven unaffected family members. Capture-NGS was performed using a custom designed capture panel covers 163 known retinal disease genes including 47 RP genes, followed by the validation of detected mutation using Sanger sequencing in all recruited family members.RESULTS:Capture-NGS in one affected 47-year-old male reveals a novel mutation, c.2417_2418insG:p.E806 fs,in exon ORF15 of RP GTPase regulator(RPGR) gene results in a frameshift change that results in a premature stop codon and a truncated protein product. The mutation was further validated in three of four affected males and two of four female carriers but not in the other unaffected family members.CONCLUSION:We have identified a novel mutation,c.2417_2418insG:p.E806 fs, in a Han Chinese family with XLRP. Our findings expand the mutation spectrum of RPGR and the phenotypic spectrum of XLRP in Han Chinese families, and confirms Capture-NGS could be aneffective and economic approach for the comprehensive molecular diagnosis of RP.
基金supported by an unrestricted Research to Prevent Blindness grant.
文摘Ethical principles form a bedrock to medical practice in any specialty,guiding physicians to appropriate attitudes and behaviors.A formal ethics curriculum can be difficult to generate de novo in an ophthalmology training program.A number of barriers exist in most ophthalmology departments:trainees may think ethics is of secondary importance compared to core basic and clinical science topics;most ophthalmology faculty have no formal degree in medical ethics;there is limited didactic time with competing academic,clinical,and surgical priorities;work-hours regulations may limit the time available to deliver“para-professional”lectures;and there is a belief that the medical ethics lectures during medical school is a sufficient amount of coursework to last through a physician’s career with no need for continuing professional development.The four pillars of medical ethics are beneficence,non-maleficence,autonomy,and justice.In addition,morals,ethics,and professionalism are important aspects of sound medical practice.A curriculum specific to medical ethics in ophthalmology can be developed in any of our sub-specialties and include lectures,curated readings,case rounds,and clinic wrap-up sessions.Ethical considerations are part of everyday clinical practice,and a structured ethics curriculum can be incorporated into ophthalmology training programs.The concept of backward design can be used to structure the curriculum,starting with the expected outcome,then designing authentic assessments,and finally putting together a learning plan that has students actively involved in ethical discussions.This paper will provide a guide to developing an ethics curriculum for an ophthalmology training program utilizing the concept of backwards design and guide the reader through the process of developing expected learning outcomes,authentic assessments,and a unified learning plan.
