Philip Awadalla

Last updated
Philip Awadalla
Born
Philip Awadalla

(1969-11-07) 7 November 1969 (age 54)
Canada
Alma mater
Scientific career
Institutions
Thesis  (2001)
Doctoral advisor Deborah Charlesworth
Other academic advisors
  • Kermit Ritland
  • Charles Langley
Website pawadallalab.org

Philip Awadalla is a professor of medical and population genetics at the Ontario Institute for Cancer Research, and the Department of Molecular Genetics, Faculty of Medicine, University of Toronto. He is the National Scientific Director [1] [2] of the Canadian Partnership for Tomorrow's Health (CanPath), formerly the Canadian Partnership for Tomorrow Project (CPTP), [3] [4] and executive director of the Ontario Health Study. [5] He is also the Executive Scientific Director of the Genome Canada Genome Technology Platform, the Canadian Data Integration Centre. [6] [7] Professor Awadalla was the Executive Scientific Director of the CARTaGENE biobank, [8] [9] [10] a regional cohort member of the CPTP, [3] from 2009 to 2015, and is currently a scientific advisor for this and other scientific and industry platforms. At the OICR, he is Director of Computational Biology.

Contents

Career

Philip Awadalla completed his Ph.D at the University of Edinburgh, Scotland under the supervision of Deborah Charlesworth in 2001. He then completed a Killam Trust Fellowship and Wellcome Trust postdoctoral fellowships under the supervision of Sarah Otto at the University of British Columbia (2001) and Charles Langley at the University of California, Davis (US) (2001-2003).[ citation needed ]

In 2004, Awadalla was appointed as assistant professor at the Department of Genetics and Centre for Bioinformatics (led by Bruce Weir) at North Carolina State University. His work there included identifying potential genetic targets for vaccines to Plasmodium falciparum , the main malaria parasite. [11] [12] This has included the first genetic maps and mapping of drug resistance genes in malaria. [13] [14]

In 2007 Awadalla, he became an associate professor in the department of pediatrics at the Université de Montréal, and in 2009 he became the Executive Scientific Director of the CARTaGENE Biobank of Québec. His research focused on developing next-generation genomics platforms to support to pediatric disease research and discovery of rare mutations. [15] [16] Awadalla discovered the relationship of a histone methylating factor encoded by the gene PRDM9 and child-hood acute lymphoblastic leukemia. [17] [16]

Research by Awadalla (with Matthew Hurles of the Wellcome Trust Sanger Institute) was first to directly estimate the number of mutations passed on by individual parents to human offspring, fewer than was previously estimated. [18] [19] Other discoveries include large scale RNA methylation and its genetic control in human mitochondria [20] and the impact of population size on negative selection in humans. [21] [22] The Awadalla team were also the first to show the impact of air pollution on gene expression and disease among thousands of individuals in the Quebec population. [23] [24]

Awadalla is part of a number of collaborative programmes, including the analysis and functional analysis groups of the 1000 Genomes Project [25] and the Pan Cancer Analysis of Whole Genomes Program.[ citation needed ]

Related Research Articles

<span class="mw-page-title-main">Mutation</span> Alteration in the nucleotide sequence of a genome

In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA, which then may undergo error-prone repair, cause an error during other forms of repair, or cause an error during replication. Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements.

<span class="mw-page-title-main">Malaria</span> Mosquito-borne infectious disease

Malaria is a mosquito-borne infectious disease that affects humans and other vertebrates. Human malaria causes symptoms that typically include fever, fatigue, vomiting, and headaches. In severe cases, it can cause jaundice, seizures, coma, or death. Symptoms usually begin 10 to 15 days after being bitten by an infected Anopheles mosquito. If not properly treated, people may have recurrences of the disease months later. In those who have recently survived an infection, reinfection usually causes milder symptoms. This partial resistance disappears over months to years if the person has no continuing exposure to malaria.

<i>Plasmodium</i> Genus of parasitic protists that can cause malaria

Plasmodium is a genus of unicellular eukaryotes that are obligate parasites of vertebrates and insects. The life cycles of Plasmodium species involve development in a blood-feeding insect host which then injects parasites into a vertebrate host during a blood meal. Parasites grow within a vertebrate body tissue before entering the bloodstream to infect red blood cells. The ensuing destruction of host red blood cells can result in malaria. During this infection, some parasites are picked up by a blood-feeding insect, continuing the life cycle.

<i>Plasmodium falciparum</i> Protozoan species of malaria parasite

Plasmodium falciparum is a unicellular protozoan parasite of humans, and the deadliest species of Plasmodium that causes malaria in humans. The parasite is transmitted through the bite of a female Anopheles mosquito and causes the disease's most dangerous form, falciparum malaria. It is responsible for around 50% of all malaria cases. P. falciparum is therefore regarded as the deadliest parasite in humans. It is also associated with the development of blood cancer and is classified as a Group 2A (probable) carcinogen.

<i>Plasmodium malariae</i> Species of single-celled organism

Plasmodium malariae is a parasitic protozoan that causes malaria in humans. It is one of several species of Plasmodium parasites that infect other organisms as pathogens, also including Plasmodium falciparum and Plasmodium vivax, responsible for most malarial infection. Found worldwide, it causes a so-called "benign malaria", not nearly as dangerous as that produced by P. falciparum or P. vivax. The signs include fevers that recur at approximately three-day intervals – a quartan fever or quartan malaria – longer than the two-day (tertian) intervals of the other malarial parasite.

<i>Plasmodium knowlesi</i> Species of single-celled organism

Plasmodium knowlesi is a parasite that causes malaria in humans and other primates. It is found throughout Southeast Asia, and is the most common cause of human malaria in Malaysia. Like other Plasmodium species, P. knowlesi has a life cycle that requires infection of both a mosquito and a warm-blooded host. While the natural warm-blooded hosts of P. knowlesi are likely various Old World monkeys, humans can be infected by P. knowlesi if they are fed upon by infected mosquitoes. P. knowlesi is a eukaryote in the phylum Apicomplexa, genus Plasmodium, and subgenus Plasmodium. It is most closely related to the human parasite Plasmodium vivax as well as other Plasmodium species that infect non-human primates.

Subtelomeres are segments of DNA between telomeric caps and chromatin.

<span class="mw-page-title-main">Human genetic variation</span> Genetic diversity in human populations

Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism.

<span class="mw-page-title-main">Hemoglobin subunit beta</span> Mammalian protein found in Homo sapiens

Hemoglobin subunit beta is a globin protein, coded for by the HBB gene, which along with alpha globin (HBA), makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA). It is 147 amino acids long and has a molecular weight of 15,867 Da. Normal adult human HbA is a heterotetramer consisting of two alpha chains and two beta chains.

<span class="mw-page-title-main">Adenylosuccinate lyase</span>

Adenylosuccinate lyase is an enzyme that in humans is encoded by the ADSL gene.

<span class="mw-page-title-main">1000 Genomes Project</span> International research effort on genetic variation

The 1000 Genomes Project, launched in January 2008, was an international research effort to establish by far the most detailed catalogue of human genetic variation. Scientists planned to sequence the genomes of at least one thousand anonymous participants from a number of different ethnic groups within the following three years, using newly developed technologies which were faster and less expensive. In 2010, the project finished its pilot phase, which was described in detail in a publication in the journal Nature. In 2012, the sequencing of 1092 genomes was announced in a Nature publication. In 2015, two papers in Nature reported results and the completion of the project and opportunities for future research.

PfATP6, also known as PfSERCA or PfATPase6, is a calcium ATPase gene encoded by the malaria parasite Plasmodium falciparum. The protein is thought to be a P-type ATPase involved in calcium ion transport.

Human genetic resistance to malaria refers to inherited changes in the DNA of humans which increase resistance to malaria and result in increased survival of individuals with those genetic changes. The existence of these genotypes is likely due to evolutionary pressure exerted by parasites of the genus Plasmodium which cause malaria. Since malaria infects red blood cells, these genetic changes are most common alterations to molecules essential for red blood cell function, such as hemoglobin or other cellular proteins or enzymes of red blood cells. These alterations generally protect red blood cells from invasion by Plasmodium parasites or replication of parasites within the red blood cell.

Pregnancy-associated malaria (PAM) or placental malaria is a presentation of the common illness that is particularly life-threatening to both mother and developing fetus. PAM is caused primarily by infection with Plasmodium falciparum, the most dangerous of the four species of malaria-causing parasites that infect humans. During pregnancy, a woman faces a much higher risk of contracting malaria and of associated complications. Prevention and treatment of malaria are essential components of prenatal care in areas where the parasite is endemic – tropical and subtropical geographic areas. Placental malaria has also been demonstrated to occur in animal models, including in rodent and non-human primate models.

<span class="mw-page-title-main">PRDM9</span> Protein-coding gene in humans

PR domain zinc finger protein 9 is a protein that in humans is encoded by the PRDM9 gene. PRDM9 is responsible for positioning recombination hotspots during meiosis by binding a DNA sequence motif encoded in its zinc finger domain. PRDM9 is the only speciation gene found so far in mammals, and is one of the fastest evolving genes in the genome.

Anavaj Sakuntabhai is a researcher specialising in human genetics of infectious diseases, notably malaria and dengue.

<span class="mw-page-title-main">Complex traits</span>

Complex traits, also known as quantitative traits, are traits that do not behave according to simple Mendelian inheritance laws. More specifically, their inheritance cannot be explained by the genetic segregation of a single gene. Such traits show a continuous range of variation and are influenced by both environmental and genetic factors. Compared to strictly Mendelian traits, complex traits are far more common, and because they can be hugely polygenic, they are studied using statistical techniques such as quantitative genetics and quantitative trait loci (QTL) mapping rather than classical genetics methods. Examples of complex traits include height, circadian rhythms, enzyme kinetics, and many diseases including diabetes and Parkinson's disease. One major goal of genetic research today is to better understand the molecular mechanisms through which genetic variants act to influence complex traits.

<span class="mw-page-title-main">Dominic Kwiatkowski</span> English medical researcher (1953–2023)

Dominic Kwiatkowski was an English medical researcher and geneticist who was head of the parasites and microbes programme at the Wellcome Sanger Institute in Cambridge and a Professor of Genomics at the University of Oxford. Kwiatkowski applied genomics and computational analysis to problems in infectious disease, with the aim of finding ways to reduce the burden of disease in the developing world.

<i>Plasmodium</i> helical interspersed subtelomeric protein

The Plasmodium helical interspersed subtelomeric proteins (PHIST) or ring-infected erythrocyte surface antigens (RESA) are a family of protein domains found in the malaria-causing Plasmodium species. It was initially identified as a short four-helical conserved region in the single-domain export proteins, but the identification of this part associated with a DnaJ domain in P. falciparum RESA has led to its reclassification as the RESA N-terminal domain. This domain has been classified into three subfamilies, PHISTa, PHISTb, and PHISTc.

<span class="mw-page-title-main">David A. Fidock</span>

David A. Fidock, is the CS Hamish Young Professor of Microbiology and Immunology and Professor of Medical Sciences at Columbia University Irving Medical Center in Manhattan.

References

  1. ↑ "Canada's largest health research platform teams up with University of Toronto to accelerate cancer and chronic disease research". www.newswire.ca. Retrieved 2018-07-22.
  2. ↑ "U of T selected as scientific partner of Canada's largest health research platform to accelerate cancer and chronic disease research". www.dlsph.utoronto.ca. 11 April 2018. Retrieved 2018-07-22.
  3. 1 2 "Home". partnershipfortomorrow.ca.
  4. ↑ Dummer, Trevor J. B.; Awadalla, Philip; Boileau, Catherine; Craig, Camille; Fortier, Isabel; Goel, Vivek; Hicks, Jason M. T.; Jacquemont, Sébastien; Knoppers, Bartha Maria (2018-06-11). "The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention". CMAJ. 190 (23): E710–E717. doi:10.1503/cmaj.170292. ISSN   0820-3946. PMC   5995593 . PMID   29891475.
  5. ↑ "Home". ontariohealthstudy.ca.
  6. ↑ "Archived copy" (PDF). Archived from the original on 2015-09-18. Retrieved 2015-10-20.{{cite web}}: CS1 maint: archived copy as title (link)
  7. ↑ "The Canadian Data Integration Centre receives new funding to help cancer researchers translate findings to patients". OICR News. 2018-01-25. Retrieved 2018-07-22.
  8. ↑ "Home". cartagene.qc.ca.
  9. ↑ ICI.Radio-Canada.ca, Zone Aucun thème sélectionné -. "Tranquillement, mais sûrement, l'ADN humain!". Radio-Canada.ca (in Canadian French). Retrieved 2018-07-22.
  10. ↑ "Quebec bio-bank project expands | CBC News". CBC. Retrieved 2018-07-22.
  11. ↑ Mu, J.; Awadalla, P.; Duan, J.; McGee, K. M.; Keebler, J.; Seydel, K.; McVean, G. A. T.; Su, X. Z. (2006). "Genome-wide variation and identification of vaccine targets in the Plasmodium falciparum genome". Nature Genetics. 39 (1): 126–130. doi: 10.1038/ng1924 . PMID   17159981. S2CID   19949550.
  12. ↑ Smith, Zach (22 January 2007). "NCSU evolutionary geneticist researches malaria's bite". Triangle Business Journal. Retrieved 7 May 2013.
  13. ↑ Idaghdour, Y.; Quinlan, J.; Goulet, J. -P.; Berghout, J.; Gbeha, E.; Bruat, V.; De Malliard, T.; Grenier, J. -C.; Gomez, S.; Gros, P.; Rahimy, M. C.; Sanni, A.; Awadalla, P. (2012). "Feature Article: Evidence for additive and interaction effects of host genotype and infection in malaria". Proceedings of the National Academy of Sciences. 109 (42): 16786–16793. doi: 10.1073/pnas.1204945109 . PMC   3479498 . PMID   22949651.
  14. ↑ Mu, Jianbing; et al. (2010). "Plasmodium falciparum genome-wide scans for positive selection, recombination hot spots". Nature Genetics. 42 (3): 268–271. doi:10.1038/ng.528. PMC   2828519 . PMID   20101240.
  15. ↑ Awadalla, Philip; et al. (2010). "Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts". American Journal of Human Genetics. 87 (3): 316–324. doi:10.1016/j.ajhg.2010.07.019. PMC   2933353 . PMID   20797689.
  16. 1 2 Hussin, Julie; et al. (2012). "Rare allelic forms of PRDM9 associated with childhood leukemia". Genome Research. 23 (3): 419–430. doi:10.1101/gr.144188.112. PMC   3589531 . PMID   23222848.
  17. ↑ Smith, Zach (26 December 2012). "This Week in Genome Research". Genome Web. Retrieved 7 May 2013.
  18. ↑ Conrad, D. F.; Keebler, J. E. M.; Depristo, M. A.; Lindsay, S. J.; Zhang, Y.; Casals, F.; Idaghdour, Y.; Hartl, C. L.; Torroja, C.; Garimella, K. V.; Zilversmit, M.; Cartwright, R.; Rouleau, G. A.; Daly, M.; Stone, E. A.; Hurles, M. E.; Awadalla, P.; 1000 Genomes, P. (2011). "Variation in genome-wide mutation rates within and between human families". Nature Genetics. 43 (7): 712–714. doi:10.1038/ng.862. PMC   3322360 . PMID   21666693.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  19. ↑ "Family Genetic Research Reveals the Speed of Human Mutation". Science Daily. 13 June 2011. Retrieved 6 May 2013.
  20. ↑ Hodgkinson, Alan; Idaghdour, Youssef; Gbeha, Elias; Grenier, Jean-Christophe; Hip-Ki, Elodie; Bruat, Vanessa; Goulet, Jean-Philippe; Malliard, Thibault de; Awadalla, Philip (2014-04-25). "High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation". Science. 344 (6182): 413–415. Bibcode:2014Sci...344..413H. doi:10.1126/science.1251110. ISSN   0036-8075. PMID   24763589. S2CID   30201335.
  21. ↑ Casals, Ferran; Hodgkinson, Alan; Hussin, Julie; Idaghdour, Youssef; Bruat, Vanessa; Maillard, Thibault de; Grenier, Jean-Cristophe; Gbeha, Elias; Hamdan, Fadi F. (2013-09-26). "Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans". PLOS Genetics. 9 (9): e1003815. doi: 10.1371/journal.pgen.1003815 . ISSN   1553-7404. PMC   3784517 . PMID   24086152.
  22. ↑ Hussin, Julie G; Hodgkinson, Alan; Idaghdour, Youssef; Grenier, Jean-Christophe; Goulet, Jean-Philippe; Gbeha, Elias; Hip-Ki, Elodie; Awadalla, Philip (2015-02-16). "Recombination affects accumulation of damaging and disease-associated mutations in human populations". Nature Genetics. 47 (4): 400–404. doi:10.1038/ng.3216. ISSN   1061-4036. PMID   25685891. S2CID   24804649.
  23. ↑ Favé, Marie-Julie; Lamaze, Fabien C.; Soave, David; Hodgkinson, Alan; Gauvin, Héloïse; Bruat, Vanessa; Grenier, Jean-Christophe; Gbeha, Elias; Skead, Kimberly (2018-03-06). "Gene-by-environment interactions in urban populations modulate risk phenotypes". Nature Communications. 9 (1): 827. Bibcode:2018NatCo...9..827F. doi:10.1038/s41467-018-03202-2. ISSN   2041-1723. PMC   5840419 . PMID   29511166.
  24. ↑ "Genetic study of Quebec residents finds air pollution trumps ancestry". Globe and Mail. Retrieved 2018-07-22.
  25. ↑ 1000 Genomes Project Consortium (2012). "An integrated map of genetic variation from 1,092 human genomes". Nature. 491 (7422): 56–65. Bibcode:2012Natur.491...56T. doi:10.1038/nature11632. PMC   3498066 . PMID   23128226.{{cite journal}}: CS1 maint: numeric names: authors list (link)
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