Gudrun A. Rappold, born August 27, 1954 in Heilbronn, is a German human geneticist known for her research on genetic diseases at the University of Heidelberg. [1] [2]
Gudrun A. Rappold, born August 27, 1954 in Heilbronn, is a German human geneticist known for her research on genetic diseases at the University of Heidelberg. [1] [2]
After studying biological sciences in Heidelberg, Konstanz, and Stanford (USA), Rappold earned her doctorate in 1984 at the University of Heidelberg under the supervision of Thomas Cremer and Friedrich Vogel. [1] [2] Her research has focused on the role of human sex chromosomes, which she continued as a post-doctoral researcher at the Medical Research Council (MRC) Mammalian Genome Unit with Howard Cooke in Edinburgh, Scotland. [3]
At the European Molecular Biology Laboratory (EMBL) in Heidelberg and the Imperial Cancer Research Fund (ICRF) in London, her work with Hans Lehrach has focused on novel genomic techniques in mouse and human genetics. [4] In 1990, she established her own research group at the Institute of Human Genetics in Heidelberg, supported by the Gerhard Hess Program of the German Research Foundation. [5]
From 2003 to 2022, she has held the position of full professor and chair of the newly created Department of Molecular Human Genetics at the Medical Faculty of the University of Heidelberg. [1] [6] She is also a co-opted member of the Faculty of Biosciences at Heidelberg University. [1] [2]
Rappold's primary research focus is on investigating the molecular mechanisms underlying genetic developmental disorders. She specifically studies neurodevelopmental disordes and the genetic causes of intellectual disability and autism. [7] [8] Additionally, she explores the regulation of transcription factors during growth and development in different disorders. [7] She has identified and functionally characterised several novel disease genes by employing different techniques such as genome editing, cell culture-based methods, induced pluripotent stem cells, and animal models. [7] [8] More recently she became involved in the protection of genetic minorities. [9] [10] [11] [12] [13]
In 1997, she filed a patent for a human growth gene and treatment in multiple countries. [14]
Rappold is a member of the Center of Rare Diseases, an associate member of the Excellence Cluster CellNetworks, member of the Interdisciplinary Center of Neurosciences and the German Cardiology Centre (DZHK). [1] [2] Her expertise extends to international advisory boards and governmental bodies in the field of science and scientific advice to the courts. [1] [2] She has co-coordinated an international multicentric diagnostic and clinical trial and provides consultancy services to the biomedical industry. [1] [6]
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.
BGI Group, formerly Beijing Genomics Institute, is a Chinese genomics company with headquarters in Yantian, Shenzhen. The company was originally formed in 1999 as a genetics research center to participate in the Human Genome Project. It also sequences the genomes of other animals, plants and microorganisms.
Gene duplication is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene. Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage.
In genetics and bioinformatics, a single-nucleotide polymorphism is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population, many publications do not apply such a frequency threshold.
David C. Page is an American biologist and professor at the Massachusetts Institute of Technology (MIT), the director of the Whitehead Institute, and a Howard Hughes Medical Institute (HHMI) investigator. He is best known for his work on mapping the Y-chromosome and on its evolution in mammals and expression during development.
The pseudoautosomal regions, PAR1, PAR2, are homologous sequences of nucleotides on the X and Y chromosomes.
The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).
In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the genome. Around 335 million SNPs have been identified in the human genome, 15 million of which are present at frequencies of 1% or higher across different populations worldwide.
David Emil Reich is an American geneticist known for his research into the population genetics of ancient humans, including their migrations and the mixing of populations, discovered by analysis of genome-wide patterns of mutations. He is professor in the department of genetics at the Harvard Medical School, and an associate of the Broad Institute. Reich was highlighted as one of Nature's 10 for his contributions to science in 2015. He received the Dan David Prize in 2017, the NAS Award in Molecular Biology, the Wiley Prize, and the Darwin–Wallace Medal in 2019. In 2021 he was awarded the Massry Prize.
Forkhead box protein P1 is a protein that in humans is encoded by the FOXP1 gene. FOXP1 is necessary for the proper development of the brain, heart, and lung in mammals. It is a member of the large FOX family of transcription factors.
RPGRIP1L is a human gene.
Short-stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, is a protein that in humans is encoded by the SHOX2 gene.
Diethard Tautz is a German biologist and geneticist, who is primarily concerned with the molecular basis of the evolution of mammals. Since 2006 he is director at the Max Planck Institute for Evolutionary Biology in Plön.
Margaret Buckingham, is a British developmental biologist working in the fields of myogenesis and cardiogenesis. She is an honorary professor at the Pasteur Institute in Paris and emeritus director in the Centre national de la recherche scientifique (CNRS). She is a member of the European Molecular Biology Organization, the Academia Europaea and the French Academy of Sciences.
Wendy K. Chung is an American clinical and molecular geneticist and physician. She is the Chair of the Department of Pediatrics at Boston Children's Hospital and is on the faculty at Harvard Medical School. She is the author of 700 peer-reviewed articles and 75 chapters and has won several awards as a physician, researcher, and professor. Chung helped to initiate a new form of newborn screening for spinal muscular atrophy which is used nationally and was among the plaintiffs in the Supreme Court case which banned gene patenting.
Donna R. Maglott is a staff scientist at the National Center for Biotechnology Information known for her research on large-scale genomics projects, including the mouse genome and development of databases required for genomics research.
Kenneth Henry Wolfe is an Irish geneticist and professor of genomic evolution at University College Dublin (UCD), Ireland.
Dennis T. Drayna is an American human geneticist known for his contributions to stuttering, human haemochromatosis, pitch, and taste. He is currently the Section Chief of Genetics of Communication Disorders at the U.S. National Institute for Deafness and Other Communication Disorders.
Christine Merlin is a French chronobiologist and an associate professor of biology at Texas A&M University. Merlin's research focuses on the underlying genetics of the monarch butterfly circadian clock and explores how circadian rhythms modulate monarch behavior and navigation.
Emily Bernstein is a professor at Mount Sinai School of Medicine known for her research on RNA interference, epigenetics, and cancer, especially melanoma.
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