SASHGNewsletter July2019

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DearSASHGmembersAswediveintothesecondhalfoftheyear,itreallyiswithdisbelief that I say the time has come for the finalnewsletterfromthecurrentYRFteam.OurinitialaimforthenewsletterswastofeatureasmanydifferentSouthernAfricanuniversitiesaspossible.Lookingback over the last two years, we are pleased to havefeaturedtheSystemsGeneticsResearchGroup(UniversityofStellenbosch), the Clinical Genetics Unit (University ofKwaZulu-Natal),andtheMitochondriaResearchLaboratory(North-West University). We would like to say a specialthank you to all the supervisors and students who havemade such excellent contributions. It really has beenfantastictoworkwitheachofyou.Inthiseditionofthenewsletter,weareexcitedtogiveyouafeatureontheHumanGeneticsUnitheadedbyProfessorKathrine Scholtz, based at the University of Limpopo. Onpage 2, Prof. Scholtz gives us an overview of the unit,followed by project summaries and some personal Q&Asfrom the 4th year (Honours equivalent) students, and anMScstudentinthisgroup.In other news, the SASHG 2019 Congress and the SASBi-SC/SASHG Young Researchers’ Symposium are fastapproaching.Registrationforbotheventshasnowclosed.Weareexcited towelcomealldelegates toCapeTown inAugust! Full programmes can be downloaded from theSASHGCongresswebsite:https://sashg2019.co.za/programme/.In light of the recent controversy surrounding race inresearch, a panel discussion will be held at the SASHG2019 Congress on Tuesday 6th August. The session titled‘Getting Beyond Race’ will be chaired by ProfessorKeymanthri Moodley, the Director of the Centre forMedicalEthics&Law.Congressdelegatesareencouragedtovoicetheiropinionsinthisinteractiveevent.TheelectionsforthenewSASHGcommittee(2019–2021)arenowopen.Thankyouforallthenominationsthatwerereceived. Please remember to cast your vote by Sunday21stJuly,viathepersonalvotinglinkthatwasemailedto

you.ThenewSASHG committeewill takeover inAugust,following their announcement at the Biennial GeneralMeeting thatwill take place onMonday5th August at theSASHGCongress.We look forward towelcomingournewcommittee!

As a note from the outgoing SASHG committee, here is asummaryofthecommittee’sachievements:1. Organising of the SASHG2019 conference in Cape

Town.2. Provided partial sponsorship of >40 students/

PostdocstoattendtheSASHGconference.3. Provided partial sponsorship to members to attend

varioushumangeneticsmeetingsonbehalfofSASHG.4. Produced a series of newsletters and tried to

representorganisationsfromaroundSouthAfrica.5. Produced a statement on the use of racial labels/

categoriesinhumangeneticsresearch.6. Preparedadirect-to-consumergenetictestingarticle,

whichwillappearinthemagazineSpecialistForum.7. Launched a Marketing Awareness campaign in the

SpecialistForum.8. Appointedasocialmedialiaisonperson.9. Cleaned up our membership database and removed

alldormantmembers.10. Conducted a survey to determine the needs of our

members.

Finally,astheoutgoingYRFrepresentative,IwouldliketosaythankyoutoeveryoneintheSASHGcommunity.Itwasan honour to have been given the opportunity to workwithsuchanincredibleteamofscientistsandpeoplethatare the SASHG committee, aswell as those in the SASHGcommunity who I have met or corresponded with alongtheway. Iwould also like to invite any SASHGmembers,especiallytheyoungresearchers,todropmeanemailwithanycomments,questions,ideas,orsuggestionsfortheYRFfocusgroupmovingforward.We hope you enjoy reading this issue of the newsletter,andwewishyouallthebestfortheremainderof2019.Warmregards,EmmaFrickelEmail:17651166@sun.ac.za

SASHGNewsletter July2019

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Photo:Front(lefttoright):DimaMohlabe(laboratorytechnician),DolphinMogajane,RonewaMudjadji,Prof.KatieScholtz,DipoleloMokaila,RediaMasemolaBack(lefttoright):RoyceMabale,RudolphSerage,AndrewMpe,ThaboSemenya

HumanGeneticsUnit,UniversityofLimpopo

The Human Genetics Unit at the University ofLimpopowasrevivedin2013withintheDepartmentof Medical Sciences, Public Health and HealthPromotion.Afteranumberofinstitutionalreshuffles,the Human Genetics Unit was moved under a newDepartment within the School of Health CareSciences, the Department of Pre-Clinical Sciences.This department is made up of three units: theAnatomyUnit,theMedicalBiochemistryUnitandtheHumanGeneticsUnit. TheHumanGeneticsUnit is averysmallunitheadedbyProfessorKathrineScholtz,made up of two lecturers and one lab technician(besides Prof. Scholtz). For the past few years, theHuman Genetics Unit has focused on reviving theHuman Genetics modules offered at the 3rd and 4thyear levelswithintheBScMedicalSciencesprogramofferedbytheDepartmentofPathologyandMedicalSciences.Nowthattheprogramisrunningefficiently,ProfessorScholtzischangingherfocustocommunityengagement and research, with the main aim ofdetermining theburdenofgenetic conditionswithintheLimpopoProvinceandtheestablishmentof

medical genetic services. Prof. Scholtz is currentlyregistered foraMSc(Med) inGeneticCounsellingattheUniversityofCapeTownandaimstobecomeanHPCSA accredited intern training site for geneticcounsellors in the future as an important steptowardsbringinggeneticservicestotheprovince.

TheHumanGeneticsUnitoffers a4th year (Honoursequivalent) course in Advanced Human Genetics, aswellasMScandPhDresearchopportunities.The4thyear level course includes both a coursework and aresearch component and at the end of the 4th year,the students graduate with a BSc Medical Sciences,majoring in Human Genetics. There are 5 majorelectives at the 4th year level, including ChemicalPathology, Medical Microbiology, Immunology,HaematologyandHumanGenetics.In2019,fourmaleand four female students registered for the HumanGenetics major. Each student has to conduct aresearchprojectaspartoftheircourserequirements.Therearecurrently3projectsbeingconductedwiththisgroupof students.Additionally, thereare3MScstudents,andProf.Scholtzis intheprocessoftryingtorecruitaPhDcandidateforalargerHaemophiliaAproject.

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4thyearstudentsfeature:ProjectsummariesandQ&As

Project1Title:Determinationoftheperformanceofsequencingandimmunohistochemistrytechniquesinthe differential diagnosis of Fibrous Dysplasia andOssifying Fibroma in archived histopathologysamples from the Pietersburg Hospital in theLimpopoProvince.

Our research focuses on testing if moleculartechniques can be used to diagnose fibro-osseouslesions, specifically ossifying fibroma and fibrousdysplasia.Fibro-osseouslesionsarelesionsinthejawcharacterised by the replacement of bone withbenign connective tissue. Ossifying fibroma andfibrous dysplasia have overlapping clinical,radiographic and histological features, whichmakesit hard to correctly distinguish one from the other,making it challenging to correctly diagnose.Assignmentofcorrecttreatmentandmanagement iscrucialbecause their aetiologyandpathogenesis aredifferent.

Ourprojectaimstoevaluatemoleculartechniquesinthe diagnoses of these conditions. The moleculartechniquesthatwillbeevaluatedareDNAsequencingoftheGNASgeneandimmunohistochemicalanalysisofosteocalcin.MutationsintheGNASgenehavebeenidentifiedinindividualswithfibrousdysplasia,whilenomutationswithinthisgenehavebeenreportedinindividuals with ossifying fibroma. Osteocalcin is aproteinresponsible for thebindingofcalciumtothebone tissue. The expression of this protein isreported tobehigher in fibrousdysplasia lesionsascompared to ossifying fibroma. The results of thisresearch project may contribute to the properdiagnosis andmanagement of fibrous dysplasia andossifyingfibroma.

-RediaMasemolaandRonewaMudjadji

Q&A:

What is your background and how did youbecomeinterestedinyourfieldofresearch?

In the rural areas, a lot of genetic conditionsdonotreceivetheattentionandtreatmentthattheyrequireduetothemythsassociatedwiththem.Thismademerealise that there is a need to find away to identifythese individualswithin thecommunityandprovidethemwithappropriateinformationandtreatment.

–RediaMasemola

Whatpieceofadvicewouldyougivetosomebodybeginningtheircareeringlobalhealth?

Nothing worth it comes easy, the field of health isbroad and a little difficult but if you put your all inyourstudies there isnowaythatyouwon’tmake it.Make ityourpriority tocomeupwithnewresearchideastoimprovethehealthofpeople.

-RonewaMudjadji

Project2Title:Thedeterminationofthepresenceofintron1andintron22inversionmutationsintheF8geneofsevereHaemophiliaApatientstreatedatthePietersburgHospitalintheLimpopoProvince.

Ourresearchfocusesondeterminingthepresenceofintron1andintron22inversionmutationsintheF8geneofsevereHaemophiliaApatientstreatedatthePietersburg Hospital in the Limpopo province.Haemophilia A is an X-linked recessive bleedingdisordercausedbyheterogenousmutationsintheF8gene. The severity of the disorder depends on theamountof factorVIII in theblood.Effects can rangefrom mild, moderate or severe depending on theFVIII levels in the blood. This disorder is morecommon than Haemophilia B, another bleedingdisorder involving theF9gene.OurresearchprojectaimstoscreensevereHaemophiliaApatientsforthemore common intron 1 and intron 22 inversions intheF8 genewith themain purpose of being able toidentifyat-risk individualswithin familiesaswellasfor pre-natal testing and carrier testing in familieswithfamilialHaemophiliaA.

-AndrewMpe,DipoleloMokailaandThaboSemenya

Q&A:

Howdoyouliketorelax?

I lockmyself up inmy room, get into bed, listen toelectronicmusicandGooglerarediseasesandtrytounderstand what causes them and theirmanifestations. I’m interested in the “therapeuticapproach” aspect of research in genetics. I lovereading up on gene and chromosome therapies astheseare thebiggesthopeof correctingmost (ifnotall)geneticdisorders.ThisisoneofthereasonswhyIchose to major in Human Genetics. Another thing IreallylovedoingisreadinguponPhilosophy.There’sa Podcast on Spotify called “Philosophize This!’’ byStephen West, in which he talks about the Pre-SocraticPhilosophy(asinancientphilosophy)allthewayup toModernPhilosophyandhoweachknown

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Philosopher and their ideas contributed andrevolutionisedPhilosophyasweknowittoday.Ialsolove readingwisdom-inspirednovels. I amcurrentlyreadingonecalled“ThePowerofYourSubconsciousMind”byJosephMurphy.

-AndrewMpe

Doyouhaveanysecrettalents?

Iloveandenjoysinging.IstartedsingingwhenIwasyoung.Iwouldtakeapieceofpaperandapencilandtry to write down my own lyrics and sing to myfamily.IstillsingandifIhearasongnomatterwhatIamdoingI’llstopandsingalong.Iwasalwaysinthechoirinmyhighschoolandprimaryyears.

-DipoleloMokaila

Whatpieceofadvicewouldyougivetosomebodybeginningtheircareeringlobalhealth?

Choosing a career in the health field is one of themost important decisions that one makes becausewhether you are at the forefront or behind thescenes, the work you do contributes to theadvancement of human knowledge and improvingthequalityoflife.Thebestwaytolovewhatyoudoisgiveityourall,andIfeellikeonecanachievethisbybeingup-to-datewiththelatestdevelopmentsinthefield, reading published journals and engaging withgiantswithinyourfieldonsocialmediaplatformslikeLinkedInandResearchGate.

-ThaboSemenya

Project 3 Title: Pilot study: The association ofdeoxyribosenucleicacidmethylationwithobesityinblack females from the Dikgale Health andDemographic Surveillance System centre in theLimpopoProvince.

Our research project focuses on the epigenetics ofobesity in a black female population. Epigeneticsrefers to the fieldof genetics that focuseson factorsthataffectgeneexpressionratherthanthenucleotidesequence in the gene. There are several epigeneticmodifications, including histone modifications, DNAmethylation and non-coding RNAs. Our study is anassociativestudyanalysing themethylationpatternsinnormalweight,overweightandobesemiddle-agedfemale individuals. Obesity is a multifactorialcondition accompanied by a multitude of co-morbidities such as metabolic syndrome, type 2

diabetesmellitusandcardiovasculardiseases,and isthus detrimental to an individual’s health. Theprevalenceofobesity isalarmingandstill rising,yetthemolecular basis of obesity is still unknown. Theproposed researchmayassist todeterminewhetherdifferentialmethylationpatternsoftheepigenomeisassociated with obesity. The identification of targetgenetic regions could assist with therapeuticinterventionsaimedatreversingmethylationprofilesassociatedwithobesity.

-RoyceMabale,DolphinMogajaneandRudolphSerage

Q&A:

Howdoyouliketorelax?

Iliketotakelongwalksorlistentomusic(electroortropicalhouseisapreference).

-DolphinMogajane

Whatpieceofadvicewouldyougivetosomebodybeginningtheircareeringlobalhealth?

Don’tpursue it ifyou’renotpassionateabout it.Thejourney will most definitely be a long one but ifyou’re passionate enough no obstacle will hinderyoursuccessandyou’lldefinitelyenjoyyourself.

-RudolphSerage

MScstudentfeature:ProjectsummaryandQ&A

Project Title: A Retrospective Study ProfilingCongenitalMalformationsintheNeonatalUnitoftheMankwengProvincialHospital,LimpopoProvince.

A review of the literature indicates that there havebeen no studies to establish the incidence andprevalence of congenital anomalies in the LimpopoProvince in the past two decades. The aim of mystudy is thus to profile congenital malformations inthe Neonatal ward at the Mankweng TertiaryHospital in order to provide baseline data and aplatform for spatial and temporal comparisons. Mystudymayassistinevaluatingthepotentialburdenofcongenital anomalies in the province and unveilpossible determinants with a view to introducepreventive measures and interventions at anappropriatetime.Most importantly, theresults fromthis study will also guide future molecular studiesthat will attempt to answer questions surrounding

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congenital anomalies and the how best to preventandmanagesuchbirthdefectsintheprovince.

-LloydMagunde

Q&A:

What is your background and how did youbecomeinterestedinyourfieldofresearch?

Ihavebeenfascinatedwithsciencefromayoungageand it is my desire to follow-on from previousresearcherssothatscienceprogressionneverstops.IamaLimpopo resident and following thedeathof aclosefriend’schild,Iwasinterestedinunderstandingthescientificreason forhisdeath,asopposedto thereportsofhumanwitchcraft.Thissparkedadesiretobetter understand unknown deaths and congenitalanomalieswithinthisprovince.

-LloydMagunde

Photo:MScstudentLloydMagunde

Photo:Frontfromleft:DolphinMogajane,DipoleloMokaila,RonewaMudjadji,RediaMasemolaBackfromright:AndrewMpe,ThaboSemenya,RudolphSerage,RoyceMabale,Prof.KatieScholtz,DimaMohlabe(laboratorytechnician),and3communitymembers

ThebelowphotoisoftheHumanGeneticsUnitatoneoftheircommunityengagementvisitstoalocalschool.