SASHGNewsletter December2018

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‘Lookingbacktomoveforward’In the ever busy life of a researcher, where failedexperiments and writer’s block are commonoccurrences, it is important to takeastepbackandrefocus on the bigger picture, to remember theworth of the work that we do. In times ofdiscouragement,alwaysremembertoreflectonyourpersonalaccomplishments,howeverbigorsmall,aswellasourprogressinthefieldasacommunity.As 2018 draws to a rapid close, this edition of thenewsletter will reflect on the past year inanticipationoftheyeartocome,providinghighlightsfrom our SASHG community and some updates ontheactivitiesofourcommittee.We start with an overview of some noteworthySASHG committee updates, including the socialmedia revamp towatchout for, aswell as the18thSASHGBiennialCongress‘savethedate’,for2019.On page 3 we have a feature on the UKZN ClinicalGeneticsUnit(CGU)headedbyProf.ColleenAldous,whogivesabriefoverviewofthefocusandongoingresearch of this group. We then have a studentfeatureonMsMpoiMakhetha,aPhDstudentinthisresearchgroup,comprisingherpersonalprofileandanarticlesummary.Thisisfollowedbysomeachievementsandresearchhighlightsfrommembersofourcommunityonpage4, all of whom deserve recognition and a heartfeltcongratulations!We end off the newsletter by ‘lookingback tomoveforward’where some results are summarised fromthe survey that was sent out to SASHG membersearlierthisyear,intheinterestofgaininginsight

into the opinions and needs of the SASHGcommunity, to better direct our goals and actionsgoingforward.We hope that you enjoy reading this edition of thenewsletter.Indeed,thishasbeenanexcitingyearforScienceandHumanGeneticsallround,andwe lookforwardtoalltheopportunitiesanddiscoveriesthatthenewyearwillbring!

MsEmmaFrickelRepresentative:YoungResearchers’ForumNotefromSASHGChair,Prof.SorayaBardien:Weappreciateyourhonestresponsestooursurvey,andwillworktowardsaddressingthepointsraised.Butfornow,letmetakethisopportunitytowishyouwell for the coming end of year break and FestiveSeason.Wehopethatthatthisholidaywillrechargethose ‘pap’ batteries, allowing you to take on thenewyearwithenthusiasmandvigour!Regards,Soraya

SASHGNewsletter December2018

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Some‘behindthescenes’SASHGcommitteeupdatesMembershiprecapSASHG membership includes access to thenewsletters, membership to an appropriate focusgroup, access to job adverts and studentopportunities,newsalerts, interactionwithpeers inthefieldofhumanormedicalgenetics,andaspecialrateattheSASHGBiennialCongress.Werecentlydidacleanupofourmailinglistandnowhave228fullypaid-upmembers. Membership can be renewed onour website: http://sashg.org/membership/. Let’scelebrateourcommunity!SocialmediarevampWe now have a new ‘social media representative’whowill be responsible for all SASHG socialmediaplatformsgoingforward.Thishasstartedoffwithabang, with the Facebook page publishing dailyupdates on compelling research in the field ofHuman Genetics. Numerous career opportunitiesrelating to studies, funding, job vacancies,workshops and more, are also published here astheyarise.Weareintheprocessofmergingthetwocurrent Facebook pages – so be sure to watch thisspace!https://www.facebook.com/HumanGeneticsSASHG/https://www.facebook.com/PostDocs.SASHG.YRF/

Membersurvey2018This year, we launched a survey to gain directfeedbackfromourcurrentmembers,tobettershapeour goals as a societymoving forward. To increasetransparency and communication between theSASHGcommitteeandmembers, futurenewsletterswillincludedifferentfocusareasofthesociety.Thesurveyresultsaresummarisedonpages5to7.SASHGBiennialCongressThepreparations for the18thBiennialCongressarewellunderway,sodon’tforgettosavethedate!Thiscongress, with the theme ‘Our Genes, OurEnvironment’, will be held at the Century CityConventionCentre,CapeTown,from3rd–6thAugust2019.Forthefirsttime,theSouthAfricanSocietyforBioinformatics Student Council (SASBi-SC) willcollaborate with the SASHG Young Researchers’Forum on the 2019 Young Researchers’Symposium,whichwillbeheldat IntakaIslandEco-Centre, Cape Town,on the 3rd of August 2019(preceding the Biennial Congress) with the theme‘The Bigger Picture’. Visit https://sashg2019.co.za/formoreinformation.

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UKZNClinicalGeneticsUnit(CGU)Prof.ColleenAldous,UKZNCGUleaderThe Clinical Genetics Unit (CGU) in KwaZulu-Natalhas consisted of scientists, clinicians and studentswhohavelookedatservice,researchandteachinginclinicalgeneticsforanumberofyears.Theresearchhasbeenepidemiologyandservicebasedupto thispointbuttherecentdevelopmentsofcollaborationswithin and outside of UKZN has given impetus tonew ideas and exciting new ventures are in thepipeline.We lookforwardtoelevatingourresearchin epidemiologywithmore accurate figures to giveto government through theModell GlobalDatabaseandalsointogeneticsofcancersandrarediseasesasanextchapterinourgrowth.Studentfeature:MpoiMakhetha,PhDMedicalGenetics

1. Whatisyourareaofresearch?

The genetics of breast cancer in South Africanwomen who have a family history of cancer.Among many genes, PALB2, which is a newlyidentifiedhighriskgene,isprovingtoshedsomelightintothegeneticcausesofthedisease,andinSA,thishasnotbeenwidelystudied.

2. What is your background and how did youbecomeinterestedinyourfieldofresearch?Other than the fact that breast cancer isbecoming increasingly common in SA, the topicwasthefocusofmystudyinmyMastersandtheresults of that study provided an insight thatmademeevenmorecuriousaswellashopeful.

3. What piece of advice would you give tosomebody beginning their career in globalhealth?Networkandmakeuseofthoseconnections,youlearn a lot from others than you do from justreadingarticles.

4. Doyouhaveanysecrettalents?

Cooking;howelsecanwebekindtoourselves?

5. Howdoyouliketorelax?Watch an action movie at the cinema whileenjoying butter-salt flavoured popcorn mixedwithAstrosandSmarties.

6. Hasanyoneinparticularinspiredyouinyourfieldorscienceingeneral?It was my high school science teacher (MrsMohlerepe) who took her time to meticulouslylisten to our “childish” not-so-new-discoveries.In that manner, she made me comfortableexploringnewhorizonstoquenchmycuriosity.

7. Whatwouldyoursuperpowerbe?Timemanipulation,because time flieswhen thethesis is going well or experiments are finallyworkingout.

8. Ifyoucouldgobackintimewherewouldyougo(andwhy)?Towhen I was 6months old and sleeping wasclassifiedasgoodbehaviour.

ArticlesummarycompiledbyMpoiMakhetha

UsinggeneticstounderstandtheinfluenceofhigherBMIondepression

The question ofwhether obesity causes depressionorviceversahasbeenacomplexonetoanswer.Toinvestigate this, Tyrell etal (2018) usedMendelianrandomization on 48,791 obese and depressedindividuals, and 291,995 controls. The studyseparated the psychological component of obesityfrom the metabolic consequences, and men fromwomen. The genetic aspect of the study includedobesity-associatedsinglenucleotidepolymorphismsin genes such as FTO. Higher BMI wasobservationallyassociatedwithhigher likelihoodofdepression.Thisassociationwasstrongerinwomenthan it was inmen. Evenwhen looking at cases ofhigher childhood BMI, and individuals whoperceived themselves as plump at age 10,researchersfoundthattherewasagreatassociationof childhood adiposity with adult depression. Thestudy basically associates both childhood and adultobesity with an increased risk of adult depression,however,Tyrelletal(2018)alsoreportedthatevenindividuals who perceived themselves asunderweight in childhood, are more likely to bedepressedadults.Article link:https://academic.oup.com/ije/advance-article/doi/10.1093/ije/dyy223/5155677

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Members’achievementsandresearchhighlights

Breast cancer surgeonand charity runner DrKarin Baatjes has yetagain lived up to her“WonderWoman”statusat Tygerberg Hospital.While completing herPhD study atStellenbosch Universityfor graduation inDecember2018,shewasappointed as the new

HeadofClinicalAnatomyatStellenboschUniversity.Her PhD study on bone health inpostmenopausalbreast cancer patients led to thedevelopment of a three-pronged clinicalmanagement approach, incorporatingwhole exomesequencing(WES).Withthisapproach,moderate-tohigh-risk genes and low-penetrance variants in keydiseasepathways could simultaneouslybeassessedfor clinical relevance to: 1) familial risk, 2)modifiablelifestyle and environmentaltriggers, andtherapy-induced co-morbidities. Her studysupervisors were Prof. Maritha Kotze, Dr MagdaConradieandProf.JustusApffelstaedt.

Daniel Tebogo recently obtained his BSc(Hons)degreeinhumangeneticsandGoodclinicalpracticecertificateat theUniversityof theFreeState,whicharestepsonhisplantobecomingamedicalscientist.

Vinet Coetzee from the University of Pretoriareceivedthefollowingawardsthisyear:• Special Recognition prize for the 2018 GAP-

Medicalcompetition,InnovationHub.• Selected as a member of the World Economic

Forum Young Scientist Community, WorldEconomicForum.

Dr Helen Malherbe(Postdoctoral Fellowin the University ofKwaZulu Natal’sSchool of ClinicalMedicine and Chair:Governing Board,Genetic AllianceSouth Africa) washonoured to be the

first winner for the Rare Diamonds Award forAdvocacy.http://ndabaonline.ukzn.ac.za/UkzndabaStory/isizulu/UKZN%20Postdoctoral%20Fellow%20Wins%20Rare%20Diamond%20Advocacy%20Award/

Dr Marlo Möller (from the Tuberculosis HostGeneticsgroupatStellenboschUniversity)reportedthefollowingachievementsfromtheirgroup:PostdoctoralFellowshipsawardedto:

• Brigitte Glanzmann – Crick AfricanNetworkAfricanCareerAcceleratorAward

• Caitlin Uren – Claude Leon FoundationPostdoctoralFellowshipfor2019

• Haiko Schurz - Claude Leon FoundationPostdoctoralFellowshipfor2019

Studentgraduations:• Talani van Schalkwyk – MSc (Human

Genetics),December2018• Haiko Schurz – PhD (Human Genetics),

March2019• Stephanie Pitts – PhD (Human Genetics,

March2019

Prof. Michael Pepper (University of Pretoria)reports on the ASSAf consensus study: Humangeneticsandgenomics inSouthAfrica:ethical, legalandsocialimplications.On 04 December 2018 the Academy of Science ofSouth Africa (ASSAf) will launch the report of aconsensus study which addresses the ethical, legaland social implications (ELSI) of genetics andgenomics work, as it relates to research, healthserviceprovisionandforensicapplications(medicalandlegal)inSouthAfrica.Thestudywasundertakenbya13-memberpanelappointedbyASSAf.

The broad philosophical approach of Ubuntu, aphilosophical notion that refers to the essence orquality of being human, has been central to thedeliberations andwriting of the report. The reportdescribesthebenefitstobederivedfromgeneticandgenomicswork,theneedforboundariestobeclearlydefined and adherence monitored to ensure thatbenefitsaresharedbyallandthatnoharmisdone.The report is divided into three thematic areas:Building Relationships, Respect for Persons andGood Stewardship. Each section is followed byrecommendations which are ethically and legallysound, culturally appropriate, feasible, enforceableand sustainable, given the resources within thecountry, and balanced against competing nationalpriorities.

The consensus report should inform thedraftingofoneormorepolicydocuments,which in turncouldguide the drafting of legislation, regulations andguidelines/standards to regulate genetics andgenomics research, health care provision, forensicapplicationsandassociatedareasinSouthAfrica.http://research.assaf.org.za/handle/20.500.11911/106

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Summaryofsurveyresults

Q:Istheresufficienttransparencyintheleadership/managementofSASHG?

A:“Yes”(92%,n=33)and“No”(8%,n=3)

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Summaryofsurveyresultscontinued…

Q:DoyouthinktheSASHGfulfilsitsaimsasstatedbelow?Ifnot,why?Ouraimsare:

• TopromoteandadvancethepracticeofscienceandhumanandmedicalgeneticsinSouthernAfrica• Tofacilitatecontactbetweenpersonsinthedifferentbranchesofhumanandmedicalgenetics• Tomaintainthehighestethicalandprofessionalstandardsinallitsaffairsandactivities• Toarrangeconferencesandsymposia• Toinitiatecontactwithsimilarorganisationsinotherpartsoftheworld• Topracticeitsaffairsinanon-profitmakingandnon-discriminatorymanner

A:“Yes”(83%,n=30),“No”(17%,n=6)Commentsfrommembers:

• Candomoretofacilitatecontactwithothersinthefieldandwithsimilarorganizationinotherpartsoftheworld.

• Theonly thing I see, isarrangingconferences;don’thavemuchelse fromSASHG for therestof thetime.Unlessitallhappens,butisnotshared.

• FormostoftheaboveaimsmyanswerwouldbeYES.However,bothSASHGanditsmemberscandomoretoridourfieldofthe"flybynights".E.g.peoplepracticinghumangeneticsbutwithouthumangenetics trainingatall. It isnot justanSASHG issue, themembersshouldallreport thisandSASHGshouldhaveaneffectivestrategytodealwithit.

• I think more can be done in terms of promotion and advocacy especially related to governmentalservicedelivery.

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Summaryofsurveyresultscontinued…

Q:What,accordingtoyou,shouldbethemainpurposeoftheSASHG?A:

• Promotionofgeneticsandrelatedknowledgebothtoacademicsandthegeneralpublic. • Education,collaboration,establishingstandardsandguidelines.• Promote genetics research in Africa to improve on health delivery through cutting edge science,

capacitybuilding,collaboration.EmbracingtheAfricangeneticdiversityforthebettermentofAfricansthroughAfricangeneticsolutionstoAfricanhealthandenvironmentalproblems.

• Tokeep in touchand liaisewith allmembers informing themofall activitiesandupdates;notonlywith the connections in SA, but internationally aswell; as I said, perhaps it does, butwe don't getnotification.

• Touphold thevaluesofprovidingaccess togeneticstoasmanypeopleaspossible, inorder tohelppatientsasalongtermgoal.

• Betheover-archingbodydealingwithmedicalgeneticsinSouthAfrica-promotingresearch,butalsotryingtoensureethicalpractice.Needstobemoreproactiveratherthanreactive.

• To connect all individuals in the field of Human Genetics in SouthAfrica in asmany possibleways(symposia,conferences,e-mailsetc.).

• Connecting the global and African human genetic groups to the South African group throughconferences/workshops/newsletters/job adverts which informs us about the current work andpossiblecollaborationswithotherhumangeneticsgroups.

• I think the aims of the society is trying to promise too much. Stick to conferences and creating aplatform from which members can seek advice, guidance and opportunities to contact otherresearchers.

• BeresponsiblestewardsofhumangeneticsonbehalfofthecitizensofSouthAfrica.

Q:Whatwouldyouliketoseemoreof?A:

• Ithinkyouaredoingagreatjob!• Proactiveengagementwithissues-issuingpositionstatements/papersoncontroversialissues.• I think the conferences only every 2 years is not enough. We fortunately have dysmorphology

teleconferencesaswellasI'montheClinicalgeneticsgroup.• Researchoutputsandjobopportunitiesaswellasopportunitiestocollaborate.• ThecorrectwayofhandlingNGSresultsandhowitshouldbereportedtodoctors.• EngagementwiththemediaandcommentaryfromtheSocietyinnewspapers,radioandTV.• Ithinkweareabitquietduringnon-conferenceyears. • Opportunitiesforstudentinteractionandnetworking. • SASHGorganised events.Doesn'tnecessarily need to be a conference, but creating a space for sub-

committees,lectures,coursesetc. • UpdatesonrelevantSAgeneticspublicationsornotablearticlespublishedbySAgeneticists.• Ihaveenjoyedthenewslettersandupdates.

Q:WhatareyourparticularneedsorrequirementsfromtheSASHG?A:

• Informationiskey,regularupdatesonsciencebreakthroughsopportunities,meetings.• Keepingupdatedaboutnews,conferencesandopportunitiesintheSouthAfricangeneticscommunity• Jobadverts,relevantconference/training/workshopnotifications.• To provide network opportunities with other South African human geneticists. I think we are not

awareenoughofeachother'sactivitiestoformsensiblecollaborations.• Tohostaconferenceandtocreateaplatformofcommunication.• Moreinteractionbetweenacademic/publicsectorandprivatesector.• ThatSASHGmustadvocatestronglyfortheethicalpracticeinourfield,andtakeeffectivemeasuresto

rootoutunethicalpractice.