Medical Genetics Services
327 BC: Aristotle
Regarded by many as the most intelligent man to ever walk on this planet, this genius was born in 384 BC in Northern Greece. Though Aristotle's work in zoology was not without errors, it was the grandest biological synthesis of the time. Aristotle's classification of animals grouped together animals with similar characters into genera and then distinguished the species within the genera.
1665: Robert Hooke  
Robert Hooke, an English researcher was possibly one of the most famous biologists of all time. He was famous for his discovery of cells and the golden microscope. He wrote a very popular book, "Micrographia" in which he noted his observations. He discovered the law of elasticity, now known as Hooke's Law. He also invented the conical pendulum and was the first person to build a Gregorian reflecting telescope.
1670: Anton Van Leeuwenhoek
The Dutch scientist was one of the first microscopists in history. His research on discovery of protozoa & the first-ever description of red blood cells gave us a window to the invisible world of biology. He never received any formal education but learned to grind lenses. The Royal Society elected him a fellow although he never found the time to visit London to sign the register. The microscopes he created with the appropriate lighting, allowed him to magnify objects up to 275 times!
1735: Carolus Linnaeus  
Carolus Linnaeus was a Swedish botanist, naturalist, physician and zoologist. He was the first person to lay down the principles to determine the natural genera and species of organisms and to form a uniform system for naming them (also known as binomial nomenclature). Linnaeus is considered to be the founding father of modern Taxonomy as well as ecology. Carolus Linnaeus put out his work "Systema Naturae" in 1735, the first edition of which explains about classification of living things.
1839: Schwann & SchLEIden
Schwann, a German physiologist and Schleiden, a German botanist proposed Cell theory. It stated that all living things or organisms are made of cells and their products. Cells are the basic building units of life. New cells are created by old cells dividing into two. Schwann also discovered Pepsin enzyme & coined the term "Metabolism". Scheilden's great abilities earned him the title of "Reformer of Scientific Botany".
1859: Charles Darwin  
When it comes to the topic of evolution, one of the most well known researchers mentioned is certainly Charles Darwin. His 1859 opus, "On the Origin of Species," revolutionized biology by explaining how life evolves and diversifies, and it remains as relevant today as ever. For Darwin's 25th birthday on February 12, 1834, Captain FitzRoy named a mountain after him, Mount Darwin. It is the highest peak in Tierra del Fuego, an archipelago off the southernmost tip of the South American mainland.
1865: GREGOR Mendel
Gregor Mendel, an Austrian monk spent his time crossing pea plants and discovered the basic principles of heredity through experiments in his garden. Mendel's discoveries earned him the title of "Father of Genetics". What makes Mendel's contributions so impressive is that he described the basic patterns of inheritance before the mechanism for inheritance (namely genes) was even discovered!
1869: Friedrich Miescher  
Friedrich Miescher was a distinguished scientist from Switzerland. He was an excellent student despite his shyness and a hearing handicap. He was the first to isolate and chemically characterize DNA, from nuclei of leukocytes found in pus from bandages. He was a visionary and in 1869 he proposed that "nuclein" might be the basis of heredity. The kitchen of the castle in Tübingen(Germany) was one of the first biochemistry labs in the world where Miescher discovered 'nuclein'.
1928: Alexander Fleming
No scientific story illustrates the power of luck coupled with ingenuity quite like the discovery of penicillin. Fleming carried out an experiment on various bacterial cultures. After some time, he observed that some of the dishes were contaminated with a fungus, which ruined his experiment. He was about to discard the dishes, when he noticed that in one dish, the bacteria failed to grow in an area around the fungus. He successfully isolated the fungus and established that it was from the Penicillium group or genus. He won the Nobel Prize for Medicine in 1945 for his discovery of penicillin.
1952: Erwin Chargaff  
Erwin Chargaff, an Austrian Biochemist was one of a handful of scientists who expanded on Levene's work by uncovering additional details of the structure of DNA, thus further paving the way for Watson and Crick. He proposed that the total amount of purines (A+G) and the total amount of pyrimidines (C+T) are usually nearly equal. This major conclusion is known as "Chargaff's rule". Chargaff's research was vital to the later work of Watson and Crick paving the way for double helix DNA.
1952: Rosalind Franklin
Rosalind Franklin was distinguished by extreme clarity and perfection in everything she undertook. One of her photographs provided key insights into the DNA structure which formed a base for other scientists to use it as the basis for their DNA model. The rules of the Nobel Prize forbid posthumous nominations and as Rosalind Franklin had died in 1958 she was not eligible for nomination of the Nobel Prize subsequently awarded to Crick, Watson, and Wilkins.
1952: Crick and Watson  
Crick and Watson, together with Maurice Wilkins, won Nobel Prize in Medicine for their discovery of the structure of DNA. This was one of the most significant scientific discoveries of the 20th century. In April 1953, they published the news of their discovery, a molecular structure of DNA based on all its known features - the double helix. Their model served to explain how DNA replicates and how hereditary information is coded on it. This set the stage for the rapid advances in molecular biology that continues till date.
1966: Marshall Warren Nirenberg
Marshall Warren Nirenberg is best known for deciphering the portion of DNA (deoxyribonucleic acid) that is responsible for the synthesis of the numerous protein molecules which form the basis of living cells. Nirenberg's research has helped to unravel the DNA genetic code, aiding in the determination of which genes code for certain hereditary traits. For his contribution to the sciences of genetics and cell biochemistry, Nirenberg was awarded the 1968 Nobel Prize in Physiology or Medicine with Robert W. Holley and Har Gobind Khorana.
1975: Frederick Sanger  
Frederick Sanger, an English biochemist is considered to be one of the greatest and most influential biochemists in history. He received the Nobel Prize for Chemistry in 1958 for the discovery of structure of insulin. During his time, no methods existed to read the genetic code, even for the simplest of genomes. Fred and his team developed methods to allow scientists to sequence DNA. This led to the 'Sanger' DNA sequencing method, which allowed up to 500-800 bases to be read at a time. His work was rewarded in 1980 when he received his second Nobel Prize. This put Fred in a select club of people who have been awarded two Nobel Prizes in their life.
1985: Kary Mullis
Kary Mullis conceived the concept of PCR technology and revolutionized molecular biology. He developed the Polymerase Chain Reaction, an elegant way to make copies of a DNA strand using the enzyme polymerase and some basic DNA "building blocks". PCR uses a thermostable DNA polymerase to amplify any given DNA segment billions of times in a few hours. Taq polymerase used in PCR was chosen as the "Molecule of the Year", by the Journal Science in 1989. Mullis was awarded "Nobel Prize in Chemistry" in 1993 for his invention and he went on to become a best-selling novelist for his book, "Dancing Naked in the Mind Field".
1988: The Human Genome Project  
The Human Genome Project's goal was to provide researchers with powerful tools to understand the genetic factors in human disease. All data generated by the Human Genome Project were made freely and rapidly available on the Internet. It lead to the discovery of more than 1,800 disease genes. The human genome is made up of 3 billion bases of DNA, split into 23 chromosomes. It is so big that it would take a century to recite, if we recited at one letter per second for 24 hours a day!!
1996: Dolly the Sheep
Dolly was the world's first mammal to be cloned from an adult cell. Considered as one of the most significant scientific breakthroughs ever, Dolly was named after singer Dolly Parton. Dolly demonstrated that it is possible to take a differentiated cell and essentially turn its clock back; to reactivate all its silent genes and make the cell behave as though it was a recently fertilised egg. She was cloned at the Roslin Institute, Scotland, where she lived until her death when she was six years. The sheep was originally code-named "6LL3".
2000: Drosophila genome decoded  
Drosophila melanogaster, has been the workhorse in laboratories for the past 90 years. In 2000, a consortium of scientists released a substantially complete fruit fly genome sequence, obtained using several different but complementary sequencing strategies. The full Drosophila sequence allows researchers to look at multiple genes simultaneously to understand the complex signal transduction pathways that regulate cellular processes. If a Drosophila homology of an important but poorly understood mammalian gene is known, the arsenal of genetic techniques used in the Drosophila system can be applied to its characterization also.
International Mouse Genome Sequencing Consortium announced their publication of a high-quality draft sequence of the mouse genome. For the first time, scientists were able to compare the human genome sequences with those of another mammal. This milestone is significant because of the widespread use of the laboratory mouse as an animal model for studying human disease. Among other informative discoveries, researchers reported that more than 90 percent of the mouse genome could be aligned with corresponding regions of the human genome, and each of the two genomes seemed to contain close to 30,000 protein-coding genes.
2007-2012: 1000 Genome project  
The 1000 Genome Project is an international collaboration to produce an extensive public catalog of human genetic variation, including SNPs and structural variants and their haplotype contexts. It aims to use the knowledge of human genome sequence variation and study it's relation between genotype and phenotype. The first study to break the '1000 genomes barrier' will enable scientists to begin to examine genetic variations at the scale of the populations of individual countries, as well as guiding them in their search for the rare genetic variations related to many diseases. This resource will support genome-wide association studies and other medical research studies.
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