Facebook Twitter Google+ Despite dropping the doubles point to start the match, No. 39 Syracuse (11-2, 3-2 Atlantic Coast) bounced back with strong singles play to beat No. 44 Clemson (7-7, 1-4), 5-2, at Drumlins Country Club. The Orange’s win marks its seventh victory in its last eight matches.After losing in first doubles on Tuesday against Florida Atlantic, SU’s No. 17 Gabriela Knutson and Miranda Ramirez looked to rebound from last year against Clemson’s No. 60 Marie-Alexandre Leduc and Fernanda Navarro. The two pairs squared off last season with Leduc and Navarro taking the match, 6-0.Knutson and Ramirez struggled from the start and only took one game during the match in a 1-6 loss. In second singles, Sofya Golubovskaya and Anna Shkudun could not take advantage of an early lead and fell to Clemson’s Ally Miller-Krasilnikov and Tate Schroeder, 2-6. With the doubles point secured for Clemson, the third doubles match featuring SU’s Masha Tritou and Dina Hegab was cut short after they were up 5-4 against Laura Marti and Sydney Riley.Down a point after the doubles portion, the Orange rallied fast behind a clean sweep from Hegab. Against Clemson’s Daniela Ruiz in sixth singles, Hegab proceeded to take 12-straight games to put Syracuse on the board fast, 6-0, 6-0.Golubovskaya made light work of Navarro in two sets, 6-2, 6-0, to give the Orange the lead in after her third singles win. On the other side of the courts, Ramirez fought off a first-set tiebreaker in second singles to roll past Schroeder, 7-6, 6-1.AdvertisementThis is placeholder textIn first singles, Knutson had to face her fourth-straight ranked opponent in as many matches. Coming off her first loss of the season against Florida Atlantic’s No. 6 Aliona Bolsova, No. 11 Knutson held her ground against No. 20 Leduc. After giving up five games in both sets, Knutson responded, 7-5, 7-5, to clinch the match for the Orange.Libi Mesh fought off a tough second set against Miller-Krasilnikov to give Syracuse its fifth point of the day, 7-5, 2-6, 6-1. Shkudun gave Clemson its only point in singles when she fell in fourth singles to Riley, 4-6, 6-4, (8-10) in a super tiebreaker.The Orange will look to extend its perfect, 7-0 home record on Sunday against No. 16 Wake Forest at Drumlins. Comments Published on March 16, 2018 at 4:14 pm Contact KJ: [email protected] | @KJEdelman
Source:https://www.unige.ch/en/ Jul 23 2018Our genome is made up of 20,000 genes, all of which may cause disease. At present, 4,141 genes have been identified as being responsible for genetic abnormalities, leaving around 16,000 genes with unknown implication in disease. Researchers from the University of Geneva (UNIGE), Switzerland, – working in collaboration with scientists from Pakistan and the USA – have investigated a recessive genetic disorder that destroys the eyes from developing and results in childhood blindness. After analysing the genomes of each member of a consanguineous family with affected children, the geneticists pinpointed pathogenic mutations in a new gene, MARK3, as being the cause. They subsequently confirmed their findings – published in the journal Human Molecular Genetics – by modifying the homologous gene in drosophila flies, which resulted in abnormal eye development and blindness. The identification of the MARK3 related disease will help to understand the mechanism of the disease, provide diagnostic services, and initiate efforts for a personalized treatment.Monogenic genetic disorders fall into two main categories: the first – so-called dominant disorders -only need one copy of the gene to be mutated to cause the disorder, such as Huntington’s disease. The second – recessive disorders – are triggered by a mutation on both copies of the gene, as is the case with cystic fibrosis. “In our attempts to uncover new recessive genetic disorders, we looked at families where there was consanguineous marriage and where both parents carried one copy the mutant gene and passed it on to the child,” explains Stylianos Antonarakis, a professor Emeritus in UNIGE’s Faculty of Medicine. Supported by the the ProVisu Foundation of Geneva, the Geneva-based geneticists then joined forces with Liaquat University in Pakistan, a country where over 50% of marriages take place between close relatives (usually first cousins).An unknown disorder that destroys eyesightThe geneticists directed their interest at an unknown illness that prevents the eyes from developing properly and gradually destroys them. “We found that the disorder was present in children from consanguineous parents. As a result, we hypothesised that it was a recessive genetic disorder,” continues professor Antonarakis. For a disorder to fall into this category, it must affect at least two children from the same family (regardless of their sex) and the parents must be in good health.Related StoriesRevolutionary gene replacement surgery restores vision in patients with retinal degenerationISTH introduces new global education initiative in gene therapy for hemophiliaStudy urges genetic testing before abdominal-based free-flap breast reconstructionTwo hundred Pakistani families that fulfilled these criteria were selected for the research programme. “We started by sequencing the genomes of every member of a family that had three children with the genetic abnormality and two healthy children. The aim was to see which gene had mutations on two copies in the affected children, on one copy in the parents, and one or zero copies in the normal siblings,” says Muhammad Ansar, a researcher in the Department of Genetic Medicine and Development at UNIGE. After carrying out a bio-informatic analysis and genetic segregation to look for the mutations of each gene in the healthy and affected children and their parents, the scientists have succeeded to isolate the MARK3 gene as being responsible for the recessive disorder.Confirming the result with drosophilae”To confirm whether MARK3 really was the gene responsible for the blindness, we checked to see if a similar mutation in drosophilae led to the same eye abnormalities,” says Ansar. The UNIGE researchers have collaborated with experts at Houston’s Baylor College of Medicine, to genetically modify drosophilae by introducing the mutation of two copies in the MARK3 gene of the flies. The result was that the flies had undeveloped eyes, and they were blind very similar to the affected children in the Pakistani family. These results provided a validation of the the research findings in human patients.The search for the genes responsible for recessive disorders is only just the beginningThis discovery means that a new recessive disorder can be accurately diagnosed. “We can now concentrate on studying the mechanisms behind the disorder with the aim of finding a treatment,” enthuses Antonarakis. It is also possible to perform a quick and inexpensive test on people in the same extended family to determine whether or not they will pass on the mutant gene for this eye disorder to their children and, in some cases, so they can avoid marriage among carriers of the pathogenic gene mutation.”Our collaboration with Pakistan helped us identify about additional 30 genes that are potentially responsible for recessive genetic disorders. We are currently refining the analyses so that, little by little, we can reduce the total number of 16,000 genes whose mutations and disorders are yet to be discovered,” conclude the Geneva researchers.