Finding Utility for Genetic Diagnostics in the Developing World
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Mishpacha-Article-February-2011.Pdf
HANGING ON BY A FRINGCOLONE:EL MORDECHAI FRIZIS’S MEMBERS COURAG THEEOUS LA SRESPONSET ACT OF THE TRIBE? FOR HIS COUNTRY OPEN MIKE FOR HUCKABEE SWEET SONG OF EMPATHY THE PRESIDENTIAL HOPEFUL ON WHAT FUELED HIS FIFTEENTH TRIP TO ISRAEL A CANDID CONVERSATION WITH SHLOIME DACHS, CHILD OF A “BROKEN HOME” LIFEGUARD AT THE GENE POOL HIS SCREENING PROGRAM HAS SPARED THOUSANDS FROM THE HORROR OF HIS PERSONAL LOSSES. NOW DOR YESHORIM’S RABBI YOSEF EKSTEIN BRAVES THE STEM CELL FRONTIER ON-SITE REPORT RAMALLAHEDUCATOR AND INNOVATOR IN RREALABBI YAAKOV TIME SPITZER CAN THES P.TILLA. FORM LIVA FISCESALLY RSOUNDAV STATE?WEI SSMANDEL’S WORDS familyfirst ISSUE 346 I 5 Adar I 5771 I February 9, 2011 PRICE: NY/NJ $3.99 Out of NY/NJ $4.99 Canada CAD $5.50 Israel NIS 11.90 UK £3.20 INSIDE The Gene Marker's Rabbi Yosef Ekstein of Dor Yeshorim Vowed that No Couple Would Know His Pain Bride When Rabbi Yosef Ekstein’s fourth Tay-Sachs baby was born, he knew he had two options – to fall into crushing despair, or take action. “The Ribono Shel Olam knew I would bury four children before I could take my self-pity and turn it outward,” Rabbi Ekstein says. But he knew nothing about genetics or biology, couldn’t speak English, and didn’t even have a high school diploma. How did this Satmar chassid, a shochet and kashrus supervisor from Argentina, evolve into a leading expert in the field of preventative genetic research, creating an Bride international screening program used by most people in shidduchim today? 34 5 Adar I 5771 2.9.11 35 QUOTES %%% Rachel Ginsberg His father, Rabbi Kalman Eliezer disease and its devastating progression, as Photos: Meir Haltovsky, Ouria Tadmor Ekstein, used to tell him, “You survived by the infant seemed perfect for the first half- a miracle. -
CARRIER SCREENING: POPULATION DIFFERENCES, STIGMA, and the SPECTER of Co-Authored with EUGENICS Stephen Pemberton Tay Sachs KEITH WAILOO, PH.D
CARRIER SCREENING: POPULATION DIFFERENCES, STIGMA, AND THE SPECTER OF Co-authored with EUGENICS Stephen Pemberton Tay Sachs KEITH WAILOO, PH.D. Disease Martin Luther King Jr. Professor Cystic Fibrosis RUTGERS UNIVERSITY Sickle Cell Disease DEPARTMENT OF HISTORY INSTITUTE FOR HEALTH, HEALTH CARE POLICY, AND AGING RESEARCH RESEARCH SUPPORTED BY: ETHICAL, LEGAL, AND SOCIAL ISSUES (ELSI) PROGRAM, NHGRI; and THE JAMES S. MCDONNELL FOUNDATION Lessons of the Past: • Balancing the screening interests of individuals, communities, and society? The importance of historical sensitivity and cultural competence among health practitioners who engage in screening • How to target screening to distinct populations? The challenge of “hidden” versus obvious subpopulations. One-size does not fit all; how screening relates to group values and concerns • In health care, knowing when screening is not the answer for some populations. Other goals: treatment and extension of life, relief. The importance of competent screening programs among populations whose group identities are invested in the maintenance of values that are distinctively different than that of the majority culture. TODAY: ONE HISTORICAL CASE STUDY (TAY-SACHS DISEASE), WITH SICKLE CELL DISEASE AND CYSTIC FIBROSIS AS BACKDROP CONTROVERSIES in CARRIER SCREENING, STIGMATIZATION, AND POPULATION – the case of sickle cell disease • LINUS PAULING 1968: “I have suggested that there should be tatooed on the forehead of every young person a symbol showing possession of the sickle cell gene or whatever other -
Tay Sachs Disease Testing
Autosomal recessive mutations Genetic diseases & testing The story of three genetic diseases Phenylketonuria Reading: Chapter 12; and pp 201-202 Sickle-Cell Anemia Tay-Sachs Disease Phenylketonuria (PKU), Sickle-Cell Anemia and Tay-Sachs Disease are autosomal Frequencies of Sickle-Cell Anemia and Tay- recessive diseases. Sachs Disease alleles in different populations. carrier Disease is expressed in Sickle-Cell Anemia matings between carriers 10-40% of the population in regions of equatorial (heterozygotes). Africa are carriers <1% of South Africans are carriers Most affected individuals have unaffected parents. Tay-Sachs Increased frequency with 1/25 American Ashkenazi Jews are carriers inbreeding. 1/300 in the general population are carriers Why are the frequencies of some Hemoglobin disease alleles so high? Major protein in red blood cells. Hemoglobin is made of four Explanation #1 polypeptide chains--2 alpha and Heterozygote advantage 2 beta chains--and four heme- iron complexes. These complexes bind O2. Explanation #2 Founder effect Hemoglobin releases CO2 and binds O2 when CO2 concentrations are low. i.e., in the lungs. Hb binds CO2 and releases O2 when CO2 concentrations high. A single amino acid change in the beta peptide results in sickle cell anemia Why is the carrier frequency so high? Carriers have an advantage in malaria-infested areas Genotype disease malaria HbA/HbA normal susceptible HbA/HbS normal resistant Tay Sachs The Founder Effect Progressive disease with an onset in infancy of developmental retardation, followed by paralysis, dementia and blindness. Death occurs in the second or third year of life. Tay-Sachs disease is caused by mutation in the hexosaminidase A gene, which removes fatty substances called gangliosides. -
Carrier Screening Panels for Ashkenazi Jews: Is More Better? Jennifer R
March 2005 ⅐ Vol. 7 ⅐ No. 3 article Carrier screening panels for Ashkenazi Jews: Is more better? Jennifer R. Leib, MS1,2, Sarah E. Gollust, BA3,4, Sara Chandros Hull, PhD3,4, and Benjamin S. Wilfond, MD3,4 Purpose: To describe the characteristics of Ashkenazi Jewish carrier testing panels offered by US Laboratories, including what diseases are included, the labels used to describe the panels, and the prices of individual tests compared to the prices of panels for each laboratory. Methods: GeneTests (http://www.genetests.org) was searched for laboratories that offered Tay-Sachs disease testing. Information was obtained from laboratory web sites, printed brochures, and telephone calls about tests/panels. Results: Twenty-seven laboratories offered up to 10 tests. The tests included two diseases associated with death in childhood (Niemann-Pick type A and Tay-Sachs disease), five with moderate disability and a variably shortened life span (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (Gaucher disease type I and DFNB1 sensorineural hearing loss). Twenty laboratories offered a total of 27 panels of tests for three to nine diseases, ranging in price from $200 to $2082. Of these, 15 panels cost less than tests ordered individually. The panels were described by 24 different labels; eight included the phrase Ashkenazi Jewish Disease or disorder and six included the phrase Ashkenazi Jewish Carrier. Conclusion: There is considerable variability in the diseases, prices, and labels of panels. Policy guidance for establishing appropriate criteria for inclusion in panels may be useful to the Ashkenazi Jewish community, clinicians, and payers. -
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series
International Journal of Molecular Sciences Review Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series 1, 2, 3, , Aleksandra Jezela-Stanek y , El˙zbietaCiara y and Karolina M. Stepien * y 1 Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland; [email protected] 2 Department of Medical Genetics, The Children’s Memorial Heath Institute, 04-730 Warsaw, Poland; [email protected] 3 Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK * Correspondence: [email protected] These authors contributed equally to this work. y Received: 31 May 2020; Accepted: 23 June 2020; Published: 26 June 2020 Abstract: Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in MCOLN1 gene encoding the transient receptor potential channel mucolipin-1. So far, 35 pathogenic or likely pathogenic MLIV-related variants have been described. Clinical manifestations include severe intellectual disability, speech deficit, progressive visual impairment leading to blindness, and myopathy. The severity of the condition may vary, including less severe psychomotor delay and/or ocular findings. As no striking recognizable facial dysmorphism, skeletal anomalies, organomegaly, or lysosomal enzyme abnormalities in serum are common features of MLIV, the clinical diagnosis may be significantly improved because of characteristic ophthalmological anomalies. This review aims to outline the pathophysiology and genetic defects of this condition with a focus on the genotype–phenotype correlation amongst cases published in the literature. The authors will present their own clinical observations and long-term outcomes in adult MLIV cases. -
Judaism, Genetic Screening and Genetic Therapy Part 2
Jerusalem Science Contest החידון המדע הירושלמי Judaism, Genetic Screening and Genetic Therapy Part 2 The Jerusalem Science contest lecture on Judaism, Genetic Screening and Genetic Therapy – Part 2 1 Judaism, Genetic Screening and Genetic Therapy FRED ROSNER, M.D., F.A.C.P. OCTOBER/NOVEMBER 1998 NUMBER 5 & 6 VOLUME 65:406-413 From the Director, Department of Medicine, Mount Sinai Services at Queens Hospital Center, Jamaica, NY, and Professor of Medicine, Mount Sinai School of Medicine, New York, NY. Address correspondence to Fred Rosner, M.D., F.A.C.P., Queens Hospital Center, 82-68 164th Street, Jamaica, NY 11432 or address e-mail to: [email protected] Presented at the 8th annual International Conference on Jewish Medical Ethics. San Francisco, CA, February 15, 1997. Fred Rosner, M.D., F.A.C.P., Professor of Medicine at Mount Sinai School of Medicine, currently serves as the Director, Department of Medicine, Queens Hospital Center in New York City. Dr. Rosner, an internationally known authority on medical ethics, is the founding and former Chairman of the Medical Ethics Committee of the Medical Society of the State of New York and is the former Co-Chairman of the Medical Ethics Committee of the Federation of Jewish Philanthropies of New York. Dr. Rosner, a prolific writer, is the author of widely acclaimed books and articles on Jewish medical ethics and Jewish medical history. He also serves as a reviewer and editor for many medical journals. In part 2, we continue to review a presentation and essay by Dr. Fred Rosner delivered on February 15, 1997 at the 8th annual Conference on Jewish Medical Ethics, San Francisco, California. -
JEWISH OBSERVER {ISSN) Ool!J-6Gl5 LS Pllbusih:O MO"Itllly J.:XCF.L't J111.Y & Allg!IST by !"!IE AGUOATH IS RAEL of AMERICA 4\! L~ROAOWAY, NEW YORK, NY !OOOJ
• The ribbon, It's America's symbol for an urgent cause. first, there were pink ond purple ribbons to support medical research. Then, as our brave troops departed for distant shores, the yellow ribbons, and the red, white and blue, appeared everywhere. To that, we add the green Cucumber ribbon to support our kin.111 troops fighting for Ooroh's vital cause - saving Jewish neshamos. So display your green ribbon with pride. It's another important way to show you care. 1. • To get your free Cucumber ribbon dial extension 6038. f you were one of the 100.000+ participants at the Eleventh Siyum HaShas of Oaf Yomi here is your chance to relive that unforgettable expe Irience through a collection of CD ROMs. capturing all of the inspiring moments of the Siyum. f you were not fortunate to attend. you can now feel that awesome expe rience by seeing and hearing the inspiring words of our gedolim. and Icapture the excitement that so many witnessed and enjoyed. This commemorative five CD ROM set encased in an attractive customized binder. has been produced by popular request and is available for $39. 99 per set (plus $5.00 per set postage and handling.) Order Now! You'll treasure this historic event for years to come. An excellent gift item - order extra sets for friends and family! To: OAF YDMI COMMISSION • AGUDATH ISRAEL OF AMERICA • 42 Broadway. New York. NY 10004 Please send me set(s) of the Eleventh Siyum HaShas of Dal Yomi Commemorative CD ROM set. Iam enclosing a contribution of $39.99 for each set ordered • (plus $5.00 per set for postage and handling [USA addresses only]). -
Fuzzy Logic and Preconceptional Genetic Carrier Screening-Revised
Issue 1/2014 2341-0183 Fuzzy%Logic%and%Preconceptional%Genetic% Carrier%Screening! ! Julia&Inthorn1! 1!Institute!for!Medical!Ethics!and!History!of!Medicine,!Göttingen!University!Medical!Centre,!Germany! and!Centre!for!Research!Ethics!and!Bioethics,!Uppsala!University,!Sweden! ! Email:[email protected]! Abstract Medical(screening(programs(have(been(established(based(on(the(idea(of(early(treatment(and( prevention.( The( selection( of( tests( as( well( as( the( diseases( tested( for( that( are( included( in( a( screening( need( to( be( ethically( justified.( This( article( looks( at( criteria( for( screening( such( as( severity( of( a( disease( and( efficiency( of( a( test( and( their( applicability( for( newly( developed( preconceptional( genetic( carrier( screening.( Preconceptional( genetic( carrier( screening( can( be( used(by(couples(planning(a(pregnancy(in(order(to(learn(it(they(are(both(carriers(of(a(recessive( inherited(diseases(und(thus(have(an(increased(risk(of(having(an(affected(child.(It(is(argued(that( introducing( fuzzy( logic( helps( to( overcome( a( binary( logic( of( ethical( decisions( and( to( discuss( ethical( problems( connected( to( the( selection( of( diseases( for( preconceptional( genetic( carrier( screening( in( a( more( nuanced( way.( With( ongoing( research( about( the( relationship( between( genotype(and(phenotype(as(well(as(current(development(of(new(genetic(screening(methods(the( selection(of(tests(and(diseases(will(have(to(deal(with(knowledge(deficits(which(fuzzy(logic(can( help(to(handle.((( Submitted:!20/02/14.!Accepted!and!Published:!29/04/14 !Inthorn: Fuzzy Logic and Preconceptional! ! Genetic! Carrier Screening! !! APHSC 1:2014 DOI tbp – http://www.aphsc.org Page 1 of 10 © 2014 by the Authors; licensee ECSC. -
Optional Ashkenazi Panel Brochure
בס’’ד Fulfilling Our Responsibility To The Next Generation A VITAL PROGRAM THAT SAVES LIVES! The Dor Yeshorim mission: For over 30 years, Dor Yeshorim has successfully prevented the occurrence of genetic diseases in our NOW AVAILABLE: families. Since 1983, Dor Yeshorim with Hashem’s help NEW PANEL OF TESTS has successfully prevented genetic diseases from affecting our Jewish Community by conducting mass screenings in high schools, colleges, universities, FOR SEVEN ADDITIONAL yeshivas and seminaries worldwide- throughout the United States, Israel, Canada, Europe, and countless other orthodox Jewish communities. DEVASTATING AND The Dor Yeshorim genetic screening program was established to provide protection from Jewish genetic diseases, while safeguarding individuals from the potentiallY FatAL psychological stigma associated with knowing their carrier status. DISEASES To date, approximately 375,000 individual genetic screening tests have been performed, and nearly 2,000 potential couples have been spared the List of Diseases: agony of giving birth to a child or children with a 1. Bardet–Biedl Syndrome Type 2 (BBS2) devastating or fatal genetic disease. The birth of a sick child not only impacts the parents of this child 2. Nemaline Myopathy (NM) but also the siblings, grandpare nts and the extended 3. Dihyrolipoamide Dehydrogenase Deficiency (DLDD) family. B’H Dor Yeshorim has been able to spare over 4. Usher Syndrome Type 1 (USH1) 2,000 families the hardships associated with having such a child. 5. Joubert Syndrome (JBTS) DY benefits from -
Medical Genetics Around the World Medical Genetics in Israel
J Med Genet: first published as 10.1136/jmg.26.3.179 on 1 March 1989. Downloaded from Medical genetics around the world Journal of Medical Genetics 1989, 26, 179-189 Medical genetics in Israel R M GOODMAN*t, B BONNE-TAMIRt, A ADAMt, R VOSS§**, G BACH§, Y SHILOHt, M BAT-MIRIAM KATZNELSON*t, G BARKAI*t, B GOLDMAN*t, B PADEH*t, J CHEMKE§1I, AND C LEGUMt¶ From *the Institute of Medical Genetics, The Chaim Sheba Hospital; tDepartment of Human Genetics, Sackler School of Medicine, Tel-Aviv University; JtDepartment of Biology, Everyman's University; WDepartment of Human Genetics, Hadassah University Hospital, Hebrew University; IKaplan Hospital, Rehovot; and ¶Ichilov Hospital, Tel-Aviv, Israel. When I was asked to write this article on human specific laws stating whom one can and cannot genetics in Israel, I was pleased to accept the marry. The Babylonian Talmud compiled approxi- challenge, but after pondering the subject for a mately 1500 years ago is an extremely rich source for period of time, I began to see some of the difficulties the description of a number of human genetic mal- in such an undertaking, owing to the great amoufnt formations and syndromes.' For example, various of investigative studies that has taken place in our cranial, facial, and body malformations are men- tioned in Kodashim, tractate Bekhorot 44a, familial country. My major concern was the unintentional copyright. omission of important historical information along epilepsy is described in Nashim, tractate Yevamot with scientific contributions to this broad and 64b, and in the same tractate and page one can find rapidly advancing field. -
Dor Yeshorim
בס"ד Dor Yeshorim Fulfilling Our Responsibility to the Next Generation Dor Yeshorim, for over 26 years, has had one mission: premarital program is the best application of preventive medicine and the most successful application of genetic sciences to date, anywhere in the The total elimination of the occurrences of recessive genetic illnesses. world. To accomplish this mission, Dor Yeshorim utilizes a program that does no harm to participants, avoids their stigmatization, and is guided by halachah. The Dor Yeshorim program has become an integral part of the shidduch process in the Torah observant Ashkenazi Jewish community worldwide. Under the direction of Gedolei Yisroel and the world’s foremost medical Over 300,000 individuals have, since its inception, participated in the experts, Dor Yeshorim has managed to eliminate the incidence of Tay program, with over 22,000 individuals being screened and joining the Sachs disease, as well as other recessive genetic diseases common to the program every year. To date, more than 1,600 marriages of couples, where Ashkenazi Jewish community, while zealously guarding the privacy and both parties were carriers of a genetic mutation, and therefore risked having dignity of Jewish families. affected children, have been avoided. The impact of the Dor Yeshorim program is indisputable. After over 26 years Today it’s a given that a potential choson or callah doesn’t arrive at a of activity there are virtually no children born with Tay Sachs disease! This marriage decision without first ascertaining genetic suitability. Using the accomplishment is evidenced by the fact that Kingsbrook Medical Center, in Dor Yeshorim program can prevent disasters in future generations. -
The Demography of Devotion: Comparing Amish and Hasidic Jewish Religious Responses to Genetic Diseases
The Demography of Devotion: Comparing Amish and Hasidic Jewish Religious Responses to Genetic Diseases A Senior Honors Thesis Presented in Partial Fulfillment of the Requirements for graduation with research distinction in Sociology in the undergraduate colleges of The Ohio State University by Andrea Lynne Nadel The Ohio State University May 2009 Project Advisor: Dr. Elizabeth Cooksey, Department of Sociology The author is indebted to Dr. Elizabeth Cooksey and Dr. Joseph Donnermeyer, who were invaluable not only for the Amish primary sources they provided, but also for the sagacity and guidance with which they enabled her to complete this research. Andrea Lynne Nadel ‐ Honors Thesis Introduction As minority religious groups in the United States, the Amish and Hasidim today share a great deal in common in terms of their ideological origins stemming from political turmoil in Europe, their history of persecution prior to arrival in the United States, their motivations for coming to America and their experiences since arrival. Both the Amish and the Hasidic Jews lived on the fringe of European society, and as a result they suffered bitterly at the hands of Europe's religious and political establishments. Early Amish and Hasidic leaders offered alternative ways for their respective faithful to journey spiritually regardless of their social standing. Subsequently, the promise of freedom from such persecution by moving to America was irresistible for both the Amish and the Hasidim, and both populations have flourished in this country since their arrival. The most compelling similarity between the Amish and the Hasidim, however, is that both groups are socially and genetically closed societies, making them uniquely susceptible to genetic diseases compared to the general population of the United States.