December 2013 News
This is an excerpt from the SAWISE profile on our PhD student Fiona Baine…
“Celebrating Women in Science and Engineering”
December 2013 | Interview with Fiona Kebirungi Baine
My name is Fiona Kebirungi Baine. I grew up in Uganda in a family of seven and moved to Cape Town to go to university. I always had a keen interest in science and there were many more options for study at the University of Cape Town. I completed my BSc in Genetics, with Economics as my second specialty. Thereafter, I joined the Division of Human Genetics in the Faculty of Health Sciences and found my passion doing research on inherited diseases that affect not just individuals but families and societies. In 2011, I enrolled for a PhD in Human Genetics and I am hoping to complete that study in the next year or so.
To see the entire interview on Fiona’s fascinating research, click on this link: http://web.uct.ac.za/org/sawise/Profiles/201312Baine.htm
Human Genetics Writer’s Workshop
The annual Human Genetics Writers’ Workshop was held at Mont Fleur conference venue in Stellenbosch over the weekend of the 23-25th November. Following is feedback from both a representative of UCT’s Research Office and a young researcher from the Division of Human Genetics.
Gaëlle Ramon – “A Coordinator’s Perspective” Research Office, Research & Innovation
Since 2003, the Research Office, through the Emerging Researcher Programme, has organised residential Writers’ Workshops for departments/divisions/units (on request). These opportunities are invaluable for UCT staff members whose timetables are often very crowded with lecturing/clinical duties, administration and training. As a result, very little time remains for engaging in Research and even less for writing up one’s research, since publishing, although a core component of one’s job, is not necessarily easy to prioritise. In consequence, Writers’ Workshops were developed to serve as capacity building platforms with the aim of creating dedicated time and space to write and subsequently publish research outputs.
Prior to the workshop, the participants prepare full article drafts which they submit to their colleagues gathered in focus groups to conduct in-depth reviews. On the first day of the workshop, the different groups congregate and exchange feedback on the manuscripts. The remainder of the time spent at the workshop is dedicated to the implementation of reviewers’ suggestions and finalising the manuscripts. It is expected that the manuscripts will then be submitted for publication within a reasonable period of time after the workshop.
The ideal is to have a few senior staff members with experience in publishing and research present, along with others who are at various stages of their own research journey. Although the main aim of the workshops is to create time to write, they also provide an ideal opportunity to address any other research-related issues. Finally, these are great team building exercises where hard work and collegiality co-exist, all this being facilitated by the selection of beautiful conference venues.
A. Prof Collet Dandara saw the value of such an exercise and requested a Writers’ Workshop in 2011, the first of its kind for the Natural Sciences. Aided by Dandara and his senior colleagues, we developed a programme that included pre-workshop seminars to prepare the participants and complement the workshop’s offerings. The workshops have now become a yearly occurrence for the Division of Human Genetics and contrary to the situation in 2011, one doesn’t need to motivate the staff to participate… They literally queue to get in!! The group was already very productive but now uses the workshops to boost its research outputs even further. Only last week, 13 researchers participated in the Division’s third workshop where high level science rubbed shoulders with delicious meals and laugher.
Jason Bosch – “A Young Researcher’s Perspective” Division of Human Genetics
This year was my first time attending the Writers’ Workshop, although I had heard many previous participants talking about how it had greatly helped them. Having gone there now myself, I must agree that the workshop was a very positive experience.
It is difficult to get feedback on your manuscripts during usual day-to-day life of the lab as everyone is busy with their own work. We send drafts back and forth by email, adding comments and corrections to the file, but it is seldom as satisfying as being able to interact with the other person. This is particularly noticeable when one has questions about something in the manuscript that would influence how one reads a later section or, when reading comments, one would like to respond and justify one’s decision. Taking that into account it was great to finally have the opportunity to sit down and discuss our manuscripts without interference. I’d say it was also good that in our groups we had people who were not co-authors on the manuscript, allowing us to get comments from someone who was unbiased and from whom we would not ordinarily receive feedback.
After the initial meetings, everyone headed to their own room to put the suggestions into practice. We had plenty of time for writing, although I found Sunday a bit too hot to really focus and be productive. There’s not much anyone can do about the weather though and I did later find that there were much cooler rooms available. Writing can be tiring work but the generous, and delicious, food ensured that we were never low on energy.
Outside of the main academic purpose of the workshop, I found the social aspect to be very good. Conversations during meals, hiking opportunities and games of pool all helped participants to bond together. I think it is valuable to see who people really are and the wide-ranging conversations had at the workshop are rare when everyone is focussed on their work.
In summary, the Writers’ Workshop was definitely worth it, both from an academic and social point of view, and I strongly encourage members of the division who have not attended to apply next year.
November 2013 News
“Highlighting the Past, Present and Future of Human Genetics”
Thursday, 28th November, 2013
Human Genetics at UCT recently hosted a special event celebrating the existence of the Division for more than 4 decades. It was also the 60th anniversary of the discovery of DNA by James Watson, Francis Crick and Rosalind Franklin, and the 10th anniversary of the Human Genome Project. Our Division was also credited to be the first to have a full genome sequence done on South African soil. More importantly, though, this is an occasion to stop and honour all those who work in and with the Division, and those who have had ties with us in the past.
September 2013 News
A huge congratulations to PhD student in the Division, Fiona Baine, who is the recipient of the 2013 L’Oreal-Unesco regional fellowship for women in science in sub-Saharan Africa!
Publication: Mail and Guardian
Date: 5 September 2013
SA women shine again in science awards by Sarah Wild, 05 Sep 2013 11:33
Two South African women receiving €15 000 towards their doctoral research. The majority of the 10 fellowship winners are based at South African universities.
The programme is meant to encourage women to conduct and complete doctoral research in the male-dominated field of science.
Adriana Marias (University of KwaZulu-Natal) is conducting research into quantum biology and Mpho Ivy Raborife (University of Witwatersrand) focuses on computer science.
Six of the other winners – Chika Yinka-Banjo (Nigeria); Fiona Baine (Uganda); Sekai Lana Tombe (Zimbabwe); Joyce Mwangama (Tanzania); Aline Saraiva Okello (Mozambique) and Aline Simo (Cameroon) – are based at South African universities, namely the University of KwaZulu-Natal, the University of Cape Town and the University of the Western Cape.
The other two winners – Mercy Badu (Ghana) and Fortune Amah-Tariah (Nigeria) – are based in their home countries.
The fellowship programme is open to female scientists under the age of 40 in sub-Saharan Africa who are reading for a doctoral science degree. It was first piloted in 2010.
L’Oréal South Africa managing director Bertrand de Laleu said: “Women face a number of challenges in this still heavily male-dominated sector. L’Oréal seeks to assist by removing one of these hurdles, which is access to finance.
“Not only is it anticipated that this will increase their active involvement and contribution to the sciences, but it will also enable women to positively impact social and economic progress in various ways, such as through addressing climate change and public health issues, for example.
“We believe the women we assist have the potential to make great strides in the field of science; in fact, two of the beneficiaries of our global programme have gone on to win Nobel prizes,” he said.
He said that the programme received 158 applications from sub-Saharan Africa.
Springtime Charity: The Nest
On Friday 6th September, Human Genetics delivered care packages and goodies to “The Nest” old age home in Cape Town. Below are a few photo’s of the day!
Publication: UCT Monday paper, Volume 32.10
Date:26 August 2010
Hope in sight: patients identified for trials
RDD databank: Two principal investigators – Profs Raj Ramesar (right) and Jacquie Greenberg (middle) from the Human Genetics Research Unit – engage in discussion with project leader and senior RDD researcher Lisa Roberts. Genetic testing in SA families with inherited RDDs and blindness pinpoints the genetic causes and opens the way to participation in clinical trials.
Identifying the genetic basis of retinal degenerative disorders (RDDs) and genetic blindness in South Africa (SA) presents a formidable challenge. But once defective genes have been mapped, there’s hope of linking patients to clinical trials and delivering significant treatment successes, says UCT geneticist Professor Jacquie Greenberg.
In 2010, nine-year-old Corey Haas underwent genetic therapy in the US, regaining much of the sight he had lost to a rare degenerative eye condition, Leber Congential Amaurosis (LCA). It marked a milestone in genetic therapy and caused a flurry in the scientific community. The media dubbed it a story of “passion and perseverance”.
Passion and perseverance are what genotyping and genetic therapy require, notes Greenberg, from Professor Raj Ramesar’s UCT/MRC Human Genetics Research Unit.
In the past two decades since the team began its research, they have found little evidence in SA of the retinal genetic defects prevalent in the US and UK, indicating a novel gene pool for this group of disorders.
In the RDD programme’s 23 years, the team has notched up several advances on this front. Supported by Retina SA, UCT and the Medical Research Council, they’ve mapped two retinal genes, RP17 (CAIV) and RP13 (PRPF8), unique to SA.
They now have the task of characterising over 3 115 individuals from 1 344 SA families registered on the unit’s RDD database, and archiving the DNA. (Only 19% of families in the UCT database have been identified as having disease-causing mutations).
Identifying and managing the specific genetic mutation in every one of these individuals in SA will build a foundation for managing patients and alerting them to future treatment options.
The team has also capitalised on developments in DNA sequencing technology, particularly the development of the microarray chip, described as ‘a lab-on-a-chip’. They work with the Asper Ophthalmics mutation-screening programme in Estonia. Patients’ DNA samples are sent for testing on the Asper Microarray Chips, which contain all the known mutations and variations in a range of RDDs worldwide.
Identifying genetic mutations and translating diagnostic results are important steps in linking patients to clinical trials, adds Greenberg. They work with a multi-disciplinary clinical team of genetic counsellors, genetic nursing sisters and medical scientists at Groote Schuur and Tygerberg Hospitals. The time factor can be a deterrent. An advocate from the north had her DNA isolated and banked in 2002, but only received results in 2008. It was good news, however, as clinical trials had begun in the US for gene therapy to treat her specific mutation.
Things moved more quickly for a family north of our borders with two young daughters, whose DNA was sent for gene tracking in 2012. The team found the specific mutation after sending DNA to Estonia for screening and the results came in at the same time as a clinical trial began in the UK.
The good news was delivered telephonically by genetic counsellor Mardelle Schoeman, who works at Tygerberg Hospital. Greenberg subsequently sent a detailed report to the family’s doctor (with their permission), which is one way that the team is overcoming logistics and capacity challenges when patients are located far away.
Another young family is going all the way to get their seven-year-old daughter with LCA and mutations in the RPE65 gene onto a clinical trial. There is no family history of the condition, and her parents used the UCT team’s contacts in the UK (where 105 RDD-related genes were tested) to have their daughter’s genetic mutation pinpointed.
“It took a while before we received results but we were overwhelmed when we did, as they had identified her genetic mutation,” said her mother.
“This is also an opportunity to assist SA citizens with similar genetic disorders, as we understand that we could possibly be the first family from SA on the trial in the UK. We do not expect this journey to be easy and we’ll take one step at a time.” Greenberg is upbeat about the future.
“As genetic testing becomes part of standard practice and complements ophthalmic evaluation, management and care, it will benefit patients with RDDs when trials are planned and conducted in the future.”
Story by Helen Swingler
IIDMM Seminar: 7 August 2013
UCT IIDMM Honours 2014 Open Day
The annual IIDMM BSc (Med) Hons Open Day is to be held on the 31st of July 2013. We encourage all prospective Honours students to attend and meet the different divisions and learn about ongoing research at the IIDMM. Further information is available in the Honours 2014 Open Day Booklet
UCT Human Genetics, Medical Biochemistry and Cell Biology Learners’ Open Day 2013
The fifth annual Learners’ Open Day will be held on the 2nd September 2013, at the UCT Medical School, from 8:45am until 3:30pm. This event is designed to serve the purposes of both a “job shadow” and an enrichment workshop, by exposing learners to the applications of genetics, medical biochemistry and cell biology in everyday life, allowing them to explore career opportunities in those fields. The programme will consist of interactive group activities, talks, simulations and discussion time, in order to introduce learners to basic genetic concepts, as well as applications of genetics in forensics, diagnostic medicine, and cutting edge research. We extend an invitation to life science teachers to apply to have 5 of their grade 11 learners attend. Please refer to the application form and information sheet or contact Shareefa Dalvie (firstname.lastname@example.org) for more information. We hope to see you there!
A Journey Along the Double Helix: Around the Human Genome in 42 Years
Inaugural lecture: Prof Jacquie Greenberg
Professor J Greenberg (UCT Monday paper)
On the 17th of April 2013, Professor Jacquie Greenberg delivered her inaugural lecture, “A Journey Along The Double Helix”. Professor Jacquie Greenberg obtained her PhD (1990) at the University of Cape Town (UCT) and is a full professor in the Division of Human Genetics, which is part of the Department of Pathology at the Faculty of Health Sciences, UCT. In 1994, Prof Greenberg registered as a Medical Scientist with the Health Professional Council of South Africa (HPCSA) and in 1996, based on her experience in Human and Medical Genetics, was one of the first Genetic Counsellors in SA. She has been involved with molecular genetic diagnostic testing at UCT and Groote Schuur Hospital for over 40 years. In 2003, she was the first woman to be elected as Chair of the Southern African Society of Human Genetics. She is a National Research Foundation C1-rated scientist and served on the UCT Human and the Animal Research Ethics Committees for several years. She is the course convenor of one of only two Masters programmes in Genetic Counselling in South Africa (SA) and is an advisory board member of the Transnational Alliance of Genetic Counsellors representing over 15 countries. She has been actively involved with patient support groups for many years including Retina SA, the Muscular Dystrophy Foundation of SA and the Huntington’s Association of SA.
Prof Greenberg was invited to serve on the committee of the SA Department of National Health’s team tasked with drafting regulations and guidelines for the new National Health Bill’s section on human cloning and stem cell research, as well as other genetic laboratory activities. This further stimulated her interest in cloning, which started as a scientific hobby in the new millennium and gradually progressed to stem cell research which has now become her vision, as part of her metaphorical journey along the double helix, of moving her research from basic science to translational genetics. In particular, the transition from medical diagnostics of Mendelian inheritance disorders, to therapeutics which is directed to SA families who suffer the consequences of these conditions.
Prof Greenberg initially started her career researching late onset Neurodegenerative Diseases, including Huntington Disease and the Inherited Ataxias and subsequently, expanded her research focus into heterogeneous conditions to include the Inherited Retinal Degenerative Diseases.
The full audio of Prof Greenberg’s lecture can be accessed here:Prof Greenberg – Audio Inaugural Lecture
Further information about the lecture can be accessed here: Monday Paper: Professor Greenberg – Inaugural Lecture
Division of Human Genetics prior to Professor Greenberg’s Inaugural Lecture
15 April 2013: UCT STEM CELL INITIATIVE
Professor Jacquie Greenberg
The Division’s Professor Jacquie Greenberg (pictured) and Professor Sue Kidson (Cell Biology) have collaborated to form the UCT Stem cell initiative. The initiative, which aims to create stem cell lines for a number of disease conditions, was recently chronicled in the UCT Monday paper (https://www.uct.ac.za/mondaypaper/archives/?id=9539). The group also has their own website,http://stemcells.uct.ac.za
15 Feb 2013: “BLACK FRIDAY”
As a united stand against violence against women and rape, the Division of Human Genetics participated in the call to wear black. South Africans wore black to mourn those who had been victims of gender based attacks and show our leaders that we have had enough of the violence.
Last updated: March 2013