Families and researchers affected by rare skin disorders will gather at the University of Colorado's Anschutz Medical Campus to conduct research studies. For individuals born without skin due to an abnormal p63 gene, skin biopsies will be performed with the goal of creating human skin models to better understand the disease mechanisms. A second group of researchers will analyze growth issues in individuals with Goltz syndrome, which causes skin and skeletal abnormalities. The conference brings together families and experts to advance research that could lead to new treatment strategies for the over 180 types of ectodermal dysplasias.
Achondroplasia is a genetic condition that results in abnormally short limbs and an enlarged head. It is caused by mutations in the FGFR3 gene. Symptoms include bowed legs, prominent forehead, and abnormal finger spacing. While there is no cure, treatment focuses on supportive care and monitoring for potential spinal issues. The condition can be diagnosed before or after birth based on physical features and imaging tests.
This case report describes a one week old male infant presenting with severe tenderness and continuous crying. Radiographs revealed multiple healed and healing fractures in the long bones and ribs. The family history revealed several infant deaths. The patient was diagnosed with Type 2A osteogenesis imperfecta, a rare inherited disorder characterized by bone fragility and fractures.
The document discusses the topics of designer babies, genetics, genetic disorders, arguments for and against designer babies, and the conclusion that designer babies changing physical characteristics goes too far and raises ethical issues. It provides information on genetics principles, the human genome project, genetic counseling, karyotypes, and cites sources for additional information.
This document discusses several types of dwarfism, including pituitary dwarfism, achondroplasia, and dystrophic dysplasia. Achondroplasia is the most common type of dwarfism, accounting for half of all cases, and is characterized by short limbs and a slightly enlarged head. Dystrophic dysplasia was once thought to be a form of achondroplasia, and individuals with this type can experience respiratory and orthopedic problems requiring surgery. Dwarfism is typically diagnosed in childhood based on visible symptoms, and genetic testing and diagnostic imaging can aid in determining the specific type.
1. A thorough evaluation of the dysmorphic child includes obtaining a detailed family, birth, and medical history as well as a comprehensive physical exam.
2. Minor anomalies and phenotypic variants can provide clues to narrow the differential diagnosis and include features such as epicanthal folds, clinodactyly, and pigmented nevi.
3. Additional diagnostic testing may include imaging studies like x-rays if skeletal abnormalities, and laboratory testing such as karyotyping to identify chromosomal abnormalities.
The document discusses various topics related to genetics and stem cell research including:
- The goals of the Human Genome Project which aimed to map all human genes between 1990-2003.
- Ethical, legal and social implications of the project including issues around genetic privacy and discrimination.
- Three types of genetic disorders - single gene, chromosomal abnormalities, and multifactorial disorders.
- The use of genetic counseling and karyotypes to understand genetic risks.
- Arguments for and against embryonic stem cell research focusing on when human life begins and whether embryos should be used for medical research.
The document discusses several topics related to human cloning and genetics:
1. It provides an overview of basic genetics principles like dominant and recessive traits.
2. It discusses the goals and legal issues surrounding the Human Genome Project, including efforts to understand genetic diseases.
3. It outlines several types of genetic disorders like single gene, chromosomal, and multifactorial disorders.
4. It presents arguments both for and against human cloning, noting perspectives on its medical potential as well as ethical concerns.
1. The document analyzes clinical signs seen on ultrasounds of fetuses suspected of having Osteogenesis Imperfecta (OI) and whether those signs correlate with mutations found in type 1 collagen genes (COL1A1 and COL1A2) after genetic testing.
2. Data from 31 fetuses showed that 53% had mutations in type 1 collagen genes confirming OI. 100% of those cases showed bowed long bones and multiple fractures on ultrasound.
3. The results suggest that fractures and bowed long bones are the most common clinical signs seen on ultrasound in fetuses later diagnosed with OI through genetic testing.
Achondroplasia is a genetic condition that results in abnormally short limbs and an enlarged head. It is caused by mutations in the FGFR3 gene. Symptoms include bowed legs, prominent forehead, and abnormal finger spacing. While there is no cure, treatment focuses on supportive care and monitoring for potential spinal issues. The condition can be diagnosed before or after birth based on physical features and imaging tests.
This case report describes a one week old male infant presenting with severe tenderness and continuous crying. Radiographs revealed multiple healed and healing fractures in the long bones and ribs. The family history revealed several infant deaths. The patient was diagnosed with Type 2A osteogenesis imperfecta, a rare inherited disorder characterized by bone fragility and fractures.
The document discusses the topics of designer babies, genetics, genetic disorders, arguments for and against designer babies, and the conclusion that designer babies changing physical characteristics goes too far and raises ethical issues. It provides information on genetics principles, the human genome project, genetic counseling, karyotypes, and cites sources for additional information.
This document discusses several types of dwarfism, including pituitary dwarfism, achondroplasia, and dystrophic dysplasia. Achondroplasia is the most common type of dwarfism, accounting for half of all cases, and is characterized by short limbs and a slightly enlarged head. Dystrophic dysplasia was once thought to be a form of achondroplasia, and individuals with this type can experience respiratory and orthopedic problems requiring surgery. Dwarfism is typically diagnosed in childhood based on visible symptoms, and genetic testing and diagnostic imaging can aid in determining the specific type.
1. A thorough evaluation of the dysmorphic child includes obtaining a detailed family, birth, and medical history as well as a comprehensive physical exam.
2. Minor anomalies and phenotypic variants can provide clues to narrow the differential diagnosis and include features such as epicanthal folds, clinodactyly, and pigmented nevi.
3. Additional diagnostic testing may include imaging studies like x-rays if skeletal abnormalities, and laboratory testing such as karyotyping to identify chromosomal abnormalities.
The document discusses various topics related to genetics and stem cell research including:
- The goals of the Human Genome Project which aimed to map all human genes between 1990-2003.
- Ethical, legal and social implications of the project including issues around genetic privacy and discrimination.
- Three types of genetic disorders - single gene, chromosomal abnormalities, and multifactorial disorders.
- The use of genetic counseling and karyotypes to understand genetic risks.
- Arguments for and against embryonic stem cell research focusing on when human life begins and whether embryos should be used for medical research.
The document discusses several topics related to human cloning and genetics:
1. It provides an overview of basic genetics principles like dominant and recessive traits.
2. It discusses the goals and legal issues surrounding the Human Genome Project, including efforts to understand genetic diseases.
3. It outlines several types of genetic disorders like single gene, chromosomal, and multifactorial disorders.
4. It presents arguments both for and against human cloning, noting perspectives on its medical potential as well as ethical concerns.
1. The document analyzes clinical signs seen on ultrasounds of fetuses suspected of having Osteogenesis Imperfecta (OI) and whether those signs correlate with mutations found in type 1 collagen genes (COL1A1 and COL1A2) after genetic testing.
2. Data from 31 fetuses showed that 53% had mutations in type 1 collagen genes confirming OI. 100% of those cases showed bowed long bones and multiple fractures on ultrasound.
3. The results suggest that fractures and bowed long bones are the most common clinical signs seen on ultrasound in fetuses later diagnosed with OI through genetic testing.
Dysmorphism refers to abnormalities in morphological development where structures can appear in different forms. Dysmorphism can be facial or structural and is seen in dysmorphic features which are differences in body structure that can be isolated or related to genetic disorders. Common dysmorphic features include variations in eye spacing, philtrum length, and nose shape. The causes of dysmorphism include chromosomal abnormalities, single gene mutations, teratogen exposure, and environmental factors during development.
There are over 300 causes of dwarfism, with the most common being a spontaneous mutation of the FGFR3 gene. The two main types of skeletal dysplasia that cause dwarfism are short trunk with average limbs, and average trunk with shorter limbs and larger head. People with dwarfism can lead normal, healthy lives through treatments like surgery, nutrition plans, physical therapy and hormone injections depending on the type of dwarfism. The likelihood of having a child with dwarfism depends on factors like the parents' height and whether one or both parents carry a dwarfism gene.
1. The document discusses an algorithmic approach to diagnosing malformed infants and children. It addresses dysmorphology versus inborn errors of metabolism, the importance of history and examination findings, and classifications of malformations.
2. Key classifications discussed include deformations, disruptions, dysplasias, and malformation syndromes. Flow charts are provided to guide clinicians through assessing number of malformations, tissues involved, tissue damage, and joint/bone involvement to determine classification.
3. Examples are given to demonstrate the application of the algorithm, such as identifying achondroplasia as a skeletal dysplasia based on involvement of one tissue with intact bones and joints. The importance of a systematic approach and differential diagnosis
This document provides an overview of evaluating a child with dysmorphism or congenital anomalies. It discusses taking a thorough history, including pregnancy, birth, medical, family histories. A detailed physical exam evaluates growth, appearance, specific anomalies. Investigations may include cytogenetics, FISH, biochemical tests to identify genetic or metabolic causes. Major categories of anomalies are discussed - malformations caused by disruptions, deformations from mechanical forces, and syndromes caused by chromosomal or single gene disorders. Specific genetic syndromes are reviewed based on their characteristic physical findings. The document aims to guide clinicians in recognizing patterns of anomalies and determining the likely genetic or environmental etiology.
Dwarfism is defined as an adult height of 4'10" or under and results from medical conditions that affect growth. It can be caused by metabolic disorders during infancy/childhood, chromosomal abnormalities, pituitary gland disorders, kidney disease, or problems absorbing nutrients. Anyone can be affected by dwarfism, as it can result from genetic mutations. The most common form is achondroplasia, which causes features like an enlarged head and bowed legs. Other types include spondyloepiphyseal dysplasias and diastrophic dysplasia. Dwarfism is diagnosed through physical exams, x-rays at birth or later genetic testing, and can be treated with physical and occupational therapy.
This document discusses several topics related to genetics and cloning, including:
- Different types of genetic inheritance like dominant, recessive, and codominant alleles
- The goals and implications of the Human Genome Project
- Different types of genetic disorders like single gene disorders, chromosome abnormalities, and multifactorial disorders
- Scientific advancements in organ cloning research, including creating tissues and organs using cells and scaffolds
- Arguments for and against organ cloning, and potential future applications of this research
This document discusses several topics related to genetics and cloning. It defines different types of genetic inheritance including dominant, recessive, and co-dominant alleles. It also describes genetic disorders such as single gene disorders, chromosome abnormalities, and multifactorial disorders. Additionally, it discusses recent scientific advancements in organ cloning and regeneration at the Wake Forest Institute for Regenerative Medicine.
Working out while intermittent fasting is possible with some adjustments. The document recommends keeping cardio workouts at a low intensity if exercising while fasting. High-intensity workouts should only be done after eating. It also suggests consuming high-protein meals and snacks, especially after training, while fasting and to focus snacks on being low carb. The author provides their own example of jogging 30 minutes to 1 hour up stairs during their fasting period.
Especies en Peligro de Extinción en VenezuelaKarilyn Montaño
El documento describe 10 especies en peligro de extinción en Venezuela, incluyendo la tortuga arrau, el jaguar, el oso frontino, el cóndor, el manatí, el oso hormiguero, el cardenalito, la cotorra, el caimán del Orinoco y la danta. Para cada especie, se detallan las principales causas de su declive poblacional como la caza, la destrucción del hábitat, y el comercio ilegal, así como las consecuencias de su posible extinción y algunas alternativas de sol
The document discusses making a lower-cost version of bulletproof coffee by replacing some of the recommended ingredients. The author is a fan of bulletproof coffee but finds the ingredients recommended by Dave Asprey to be too expensive. Instead, the author uses less expensive alternatives for the coffee, butter, and MCT oil. They also use a juicer instead of a blender to make the coffee. The result is a cheaper way for the author to enjoy bulletproof coffee daily while still getting the benefits.
The document discusses the importance of organizing content on websites and in documents. Effective organization helps visitors and readers understand information by grouping related pieces together in a logical manner. Some common methods for organizing content include alphabetically, by audience, and through card sorting techniques which involve users grouping topics themselves. Proper organization turns words into an effective "machine" that achieves the writer or speaker's goals by creating a certain experience for the audience.
Intermittent fasting improves the growth hormone secretionreabetsoe mogotsi
Six men participated in a study where their growth hormone levels were examined during a 5-day fast and a feeding day. The study found that intermittent fasting increases growth hormone secretion. Specifically, fasting lowers somatomedin C levels and removes feedback inhibition, allowing for greater growth hormone release. The effect on growth hormone can take place within 12-24 hours of fasting, not necessarily requiring a full 5-day fast.
The keto diet aims to stay in ketosis through very low carb intake of 20-30g per day, focusing on healthy fats and moderate protein at 0.5g per pound of body weight. Net carbs are calculated by subtracting fiber from total carbs to stay within the daily limit, with the best sources of carbs, protein, and fats coming from foods like avocados, grass-fed meat, fish, eggs, and olive oil.
O documento discute a importância do planeamento físico em Moçambique, os problemas da ausência de ordenamento territorial e as características dos assentamentos informais. Também aborda formas de lidar com assentamentos informais e a importância do planeamento urbano e do plano de estrutura urbana.
Families affected by rare genetic disorders called ectodermal dysplasias will gather in Colorado Springs from July 23rd to 25th for the 34th annual conference hosted by the National Foundation for Ectodermal Dysplasias. The conference will provide information on treating ectodermal dysplasias and allow families to network. Ectodermal dysplasias involve defects in hair, teeth, nails and sweat glands and can range from mild to severe symptoms. The National Foundation for Ectodermal Dysplasias is the leading organization supporting those affected by ectodermal dysplasias and will host the conference.
The document discusses the pros and cons of designer babies. It provides background on genetics and genetic disorders. While designer babies could reduce genetic disorders, they may negatively impact biodiversity and take choices away from children. The document concludes that preventing disease is acceptable but choosing physical traits goes too far and places too much emphasis on appearance over character.
The document discusses the topics of genetics, the human genome project, genetic disorders, arguments for and against designer babies, and a conclusion. It provides information on how traits are inherited and controlled based on dominant, recessive, and co-dominant alleles. It outlines the goals and implications of the human genome project, including changes to laws like GINA. It also defines different types of genetic disorders and how genetic counseling can help predict outcomes for future children. Arguments both for and against designer babies are presented considering ethics, costs, and impact on the child's choices. The conclusion is personally against designer babies except to prevent disease.
Here are some key points to focus on for the psychology midterm:
- Memory: Define different types of memory (sensory, short-term, long-term, episodic, semantic, procedural). Understand memory models (Atkinson-Shiffrin, working memory). Know factors that influence memory accuracy and storage.
- Learning: Define classical and operant conditioning. Understand principles of reinforcement, punishment, extinction. Know examples of different conditioning paradigms.
- Cognition: Understand how attention, perception, problem-solving work. Know biases and heuristics. Define language and thinking.
- Development: Know major theories of development (psychoanalytic, cognitive, behavioral). Understand development
Genetics is the study of how traits are inherited through interactions of genes. Genes come in pairs and offspring inherit one copy of each gene from each parent. Traits can be dominant or recessive. Dominant traits always show up even if the recessive allele is present. Genetic material and traits are passed from parents to offspring through chromosomes and alleles. Genetic testing and counseling help determine genetic disorders that may be inherited. Advancements in cloning and genetic engineering allow for manipulation of genetic material.
Genetics is the study of how traits are inherited through interactions of genes. Genes come in pairs and offspring inherit one copy of each gene from each parent. Traits can be dominant or recessive. Dominant traits always show up even if the recessive allele is present. Genetic material and traits are passed from parents to offspring through chromosomes and alleles. Genetic testing and counseling help determine genetic disorders that may be inherited. Advancements in cloning and genetic engineering allow for manipulation of genetic material.
Dysmorphism refers to abnormalities in morphological development where structures can appear in different forms. Dysmorphism can be facial or structural and is seen in dysmorphic features which are differences in body structure that can be isolated or related to genetic disorders. Common dysmorphic features include variations in eye spacing, philtrum length, and nose shape. The causes of dysmorphism include chromosomal abnormalities, single gene mutations, teratogen exposure, and environmental factors during development.
There are over 300 causes of dwarfism, with the most common being a spontaneous mutation of the FGFR3 gene. The two main types of skeletal dysplasia that cause dwarfism are short trunk with average limbs, and average trunk with shorter limbs and larger head. People with dwarfism can lead normal, healthy lives through treatments like surgery, nutrition plans, physical therapy and hormone injections depending on the type of dwarfism. The likelihood of having a child with dwarfism depends on factors like the parents' height and whether one or both parents carry a dwarfism gene.
1. The document discusses an algorithmic approach to diagnosing malformed infants and children. It addresses dysmorphology versus inborn errors of metabolism, the importance of history and examination findings, and classifications of malformations.
2. Key classifications discussed include deformations, disruptions, dysplasias, and malformation syndromes. Flow charts are provided to guide clinicians through assessing number of malformations, tissues involved, tissue damage, and joint/bone involvement to determine classification.
3. Examples are given to demonstrate the application of the algorithm, such as identifying achondroplasia as a skeletal dysplasia based on involvement of one tissue with intact bones and joints. The importance of a systematic approach and differential diagnosis
This document provides an overview of evaluating a child with dysmorphism or congenital anomalies. It discusses taking a thorough history, including pregnancy, birth, medical, family histories. A detailed physical exam evaluates growth, appearance, specific anomalies. Investigations may include cytogenetics, FISH, biochemical tests to identify genetic or metabolic causes. Major categories of anomalies are discussed - malformations caused by disruptions, deformations from mechanical forces, and syndromes caused by chromosomal or single gene disorders. Specific genetic syndromes are reviewed based on their characteristic physical findings. The document aims to guide clinicians in recognizing patterns of anomalies and determining the likely genetic or environmental etiology.
Dwarfism is defined as an adult height of 4'10" or under and results from medical conditions that affect growth. It can be caused by metabolic disorders during infancy/childhood, chromosomal abnormalities, pituitary gland disorders, kidney disease, or problems absorbing nutrients. Anyone can be affected by dwarfism, as it can result from genetic mutations. The most common form is achondroplasia, which causes features like an enlarged head and bowed legs. Other types include spondyloepiphyseal dysplasias and diastrophic dysplasia. Dwarfism is diagnosed through physical exams, x-rays at birth or later genetic testing, and can be treated with physical and occupational therapy.
This document discusses several topics related to genetics and cloning, including:
- Different types of genetic inheritance like dominant, recessive, and codominant alleles
- The goals and implications of the Human Genome Project
- Different types of genetic disorders like single gene disorders, chromosome abnormalities, and multifactorial disorders
- Scientific advancements in organ cloning research, including creating tissues and organs using cells and scaffolds
- Arguments for and against organ cloning, and potential future applications of this research
This document discusses several topics related to genetics and cloning. It defines different types of genetic inheritance including dominant, recessive, and co-dominant alleles. It also describes genetic disorders such as single gene disorders, chromosome abnormalities, and multifactorial disorders. Additionally, it discusses recent scientific advancements in organ cloning and regeneration at the Wake Forest Institute for Regenerative Medicine.
Working out while intermittent fasting is possible with some adjustments. The document recommends keeping cardio workouts at a low intensity if exercising while fasting. High-intensity workouts should only be done after eating. It also suggests consuming high-protein meals and snacks, especially after training, while fasting and to focus snacks on being low carb. The author provides their own example of jogging 30 minutes to 1 hour up stairs during their fasting period.
Especies en Peligro de Extinción en VenezuelaKarilyn Montaño
El documento describe 10 especies en peligro de extinción en Venezuela, incluyendo la tortuga arrau, el jaguar, el oso frontino, el cóndor, el manatí, el oso hormiguero, el cardenalito, la cotorra, el caimán del Orinoco y la danta. Para cada especie, se detallan las principales causas de su declive poblacional como la caza, la destrucción del hábitat, y el comercio ilegal, así como las consecuencias de su posible extinción y algunas alternativas de sol
The document discusses making a lower-cost version of bulletproof coffee by replacing some of the recommended ingredients. The author is a fan of bulletproof coffee but finds the ingredients recommended by Dave Asprey to be too expensive. Instead, the author uses less expensive alternatives for the coffee, butter, and MCT oil. They also use a juicer instead of a blender to make the coffee. The result is a cheaper way for the author to enjoy bulletproof coffee daily while still getting the benefits.
The document discusses the importance of organizing content on websites and in documents. Effective organization helps visitors and readers understand information by grouping related pieces together in a logical manner. Some common methods for organizing content include alphabetically, by audience, and through card sorting techniques which involve users grouping topics themselves. Proper organization turns words into an effective "machine" that achieves the writer or speaker's goals by creating a certain experience for the audience.
Intermittent fasting improves the growth hormone secretionreabetsoe mogotsi
Six men participated in a study where their growth hormone levels were examined during a 5-day fast and a feeding day. The study found that intermittent fasting increases growth hormone secretion. Specifically, fasting lowers somatomedin C levels and removes feedback inhibition, allowing for greater growth hormone release. The effect on growth hormone can take place within 12-24 hours of fasting, not necessarily requiring a full 5-day fast.
The keto diet aims to stay in ketosis through very low carb intake of 20-30g per day, focusing on healthy fats and moderate protein at 0.5g per pound of body weight. Net carbs are calculated by subtracting fiber from total carbs to stay within the daily limit, with the best sources of carbs, protein, and fats coming from foods like avocados, grass-fed meat, fish, eggs, and olive oil.
O documento discute a importância do planeamento físico em Moçambique, os problemas da ausência de ordenamento territorial e as características dos assentamentos informais. Também aborda formas de lidar com assentamentos informais e a importância do planeamento urbano e do plano de estrutura urbana.
Families affected by rare genetic disorders called ectodermal dysplasias will gather in Colorado Springs from July 23rd to 25th for the 34th annual conference hosted by the National Foundation for Ectodermal Dysplasias. The conference will provide information on treating ectodermal dysplasias and allow families to network. Ectodermal dysplasias involve defects in hair, teeth, nails and sweat glands and can range from mild to severe symptoms. The National Foundation for Ectodermal Dysplasias is the leading organization supporting those affected by ectodermal dysplasias and will host the conference.
The document discusses the pros and cons of designer babies. It provides background on genetics and genetic disorders. While designer babies could reduce genetic disorders, they may negatively impact biodiversity and take choices away from children. The document concludes that preventing disease is acceptable but choosing physical traits goes too far and places too much emphasis on appearance over character.
The document discusses the topics of genetics, the human genome project, genetic disorders, arguments for and against designer babies, and a conclusion. It provides information on how traits are inherited and controlled based on dominant, recessive, and co-dominant alleles. It outlines the goals and implications of the human genome project, including changes to laws like GINA. It also defines different types of genetic disorders and how genetic counseling can help predict outcomes for future children. Arguments both for and against designer babies are presented considering ethics, costs, and impact on the child's choices. The conclusion is personally against designer babies except to prevent disease.
Here are some key points to focus on for the psychology midterm:
- Memory: Define different types of memory (sensory, short-term, long-term, episodic, semantic, procedural). Understand memory models (Atkinson-Shiffrin, working memory). Know factors that influence memory accuracy and storage.
- Learning: Define classical and operant conditioning. Understand principles of reinforcement, punishment, extinction. Know examples of different conditioning paradigms.
- Cognition: Understand how attention, perception, problem-solving work. Know biases and heuristics. Define language and thinking.
- Development: Know major theories of development (psychoanalytic, cognitive, behavioral). Understand development
Genetics is the study of how traits are inherited through interactions of genes. Genes come in pairs and offspring inherit one copy of each gene from each parent. Traits can be dominant or recessive. Dominant traits always show up even if the recessive allele is present. Genetic material and traits are passed from parents to offspring through chromosomes and alleles. Genetic testing and counseling help determine genetic disorders that may be inherited. Advancements in cloning and genetic engineering allow for manipulation of genetic material.
Genetics is the study of how traits are inherited through interactions of genes. Genes come in pairs and offspring inherit one copy of each gene from each parent. Traits can be dominant or recessive. Dominant traits always show up even if the recessive allele is present. Genetic material and traits are passed from parents to offspring through chromosomes and alleles. Genetic testing and counseling help determine genetic disorders that may be inherited. Advancements in cloning and genetic engineering allow for manipulation of genetic material.
Final cloning endangered species 1 main presentationsomsscience7
Cloning endangered or extinct species could help protect biodiversity by preventing further species loss. The process would involve extracting DNA from preserved cells of an extinct animal and inserting it into an egg cell of a closely related living species. This technique has already been used to clone the Pyrenean ibex, an extinct subspecies of wild goat, in 2009. While cloning could boost wild populations, it also raises ethical concerns about interfering with nature. Public opinion on cloning animals is mixed, with some viewing it as morally acceptable and others seeing it as morally wrong. The likelihood of successfully cloning an extinct species in the next 40 years is debated, with opinions ranging from definite to unlikely.
Nicks final cloning endangered species 1 main presentationsomsscience7
Cloning endangered or extinct species could help protect biodiversity by preventing further species loss. The cloning process involves transferring the nucleus of a donor somatic cell into an egg cell that has had its nucleus removed. The resulting embryo would develop and could be used for captive breeding programs to boost wild populations. While cloning animals is technically possible, there are ethical concerns about interfering with nature and cloned animals may face health issues. Public opinion on animal cloning is mixed, with some seeing benefits to conservation but others believing it is morally wrong to clone animals. The likelihood of successfully cloning an extinct species in the next 40 years is debated but seen by many as possible or probable.
The document discusses genetic disorders and the implications of genetic engineering. It outlines principles of genetics such as dominant and recessive alleles. It also discusses the goals and implications of the Human Genome Project, including identifying DNA sequences and addressing ethical issues. Both arguments for and against designing babies are provided, such as reducing disease versus limiting self-determination.
The document discusses several key points about stem cell research:
1. Stem cells have the potential to develop into any type of body cell and can be used to replace damaged or missing cells.
2. Sources of stem cells include discarded baby teeth, umbilical cord blood, and bone marrow, with each source having advantages and disadvantages.
3. While bone marrow collection may cause some pain, the benefits of stem cell therapies potentially include cures for conditions like Parkinson's, Alzheimer's, cancer, and heart disease.
Genetic engineering can be used to cure diseases and treat genetic disorders. It has potential to cure conditions like AIDS and cystic fibrosis by altering genes. Scientists have already used genetic engineering to develop blood cells resistant to HIV in human trials. Genetic testing also helps predict genetic disorders by identifying chromosomal abnormalities. While promising, genetic engineering raises ethical concerns about access to information and potential discrimination.
Cure and Treatment of Diseases and DisordersMorganScience
Genetic engineering can be used to cure diseases and treat genetic disorders. It has potential to cure conditions like AIDS and cystic fibrosis by altering genes. However, there are also ethical concerns about genetic testing and privacy. Karyotyping can help predict genetic disorders by identifying chromosomal abnormalities. While genetic engineering holds promise, its application to cure diseases is still being researched.
This document discusses the pros and cons of designer babies. It begins by explaining genetic principles like dominance, co-dominance, and how parental alleles combine in offspring. It then discusses the Human Genome Project and some of the ethical issues around genetic information. Several scientists provide opinions on both sides of the designer baby debate. The document concludes that designer babies could be acceptable to reduce genetic disorders or allow infertile couples to have children, but should not be used for non-medical reasons as it removes child autonomy and diversity.
Обзор литературы, посвящённый генетическим факторам в ортодонтии
Verma VK. Genetics and orthodontics: digging secrets of the past.J Dent Res Updates 2014 Dec;1(1):29-35
The Endocrine Fellows Foundation (EFF) was created in 1990 to expand endocrine fellows' exposure to research beyond what is available during their clinical training. The EFF holds an annual research meeting focused on diabetes and related disorders to allow fellows to present projects, receive feedback, and network. It also awards grants to support fellows' research and offers opportunities like two-week preceptorships in metabolic bone diseases. Through these activities and passionate faculty volunteers, the EFF enhances fellows' education and inspires them to become the next generation of teachers.
The document discusses the topic of designer babies. It begins by defining designer babies as babies whose genetic makeup has been artificially selected through genetic engineering and IVF to ensure certain genes or characteristics. It notes some of the goals of selecting traits like gender, eye/hair color, intelligence, etc. However, it also discusses some of the ethical concerns with selecting traits and potential unintended consequences like imbalance of gender ratios. It provides pros and cons of the issue.
The document discusses the topic of designer babies. It provides background on genetic engineering and in vitro fertilization being used to select certain traits for babies. Both the pros and cons of designer babies are outlined. The pros include reducing disease risk, using a baby's cells to cure a sick sibling, and allowing parents to design their "dream child." However, the cons note issues like certain races being outnumbered, children facing pressure to meet expectations, and the high financial costs involved.
The document discusses the topic of designer babies. It provides background on genetic engineering and in vitro fertilization being used to select certain traits for babies. Both the pros and cons of designer babies are outlined. The pros include reducing disease risk, using a baby's cells to cure a sick sibling, and allowing parents to design their "dream child." However, the cons note issues like certain races being outnumbered, children facing pressure to meet expectations, and the high financial costs involved.
The document discusses several arguments in favor of genetic engineering, stem cell therapy, and organ cloning to treat genetic diseases and disorders. It notes that gene therapy could potentially cure genetic disorders by replacing defective genes, and cites examples where gene therapy has helped monkeys regain color vision. The document also discusses how stem cell therapy may help regenerate body parts and eliminate the need for medical testing on animals. Organ cloning is presented as a way to provide transplant organs that are less likely to be rejected. However, the document also notes one argument against genetic engineering, which is that altering nature may have unintended and potentially unsafe consequences.
The document discusses several arguments in favor of genetic engineering, stem cell therapy, and organ cloning to treat genetic diseases and disorders. It notes that gene therapy could potentially cure genetic disorders by replacing defective genes, and provides examples of research showing promise for treating conditions like blindness. The document also outlines benefits of stem cell therapy like regenerating body parts without risk of rejection, and how organ cloning could eliminate transplant waiting lists by providing customized organs with no rejection risk. However, it also presents arguments that genetic engineering could disrupt natural processes and carry unknown safety risks if not properly regulated.
1. Stem Cell Research to Produce Skin for Individuals Born Without
Twenty-Five Affected Individuals Assisting in Rare Disorder Study
Who: The National Foundation for Ectodermal Dysplasias
What: NFED Research Conference
When: July 22, 2015
Where: Anschutz Medical Campus at the University of Colorado – 13001 E. 17th Pl.,
Aurora, CO 80045 (UCH Dermatology Clinic, Gates Biomanufacturing Facility, Ectodermal Dysplasia
Research Laboratories)
Why: An opportunity for researchers to gather information on two specific types of rare ectodermal
dysplasias, Goltz and p63, to further their efforts in finding treatment and a cure.
PHOTO OPPORTUNITIES
Skin Biopsies will be obtained inside the UCH Dermatology Clinic within the Anschutz Medical
Campus at the University of Colorado; Wednesday, July 22, 8 a.m. – 12 p.m.
Adults
Adult will be given a tour of the Gates Biomanufacturing Facility within the Anschutz Medical
Campus at the University of Colorado; Wednesday, July 22, 1:30 p.m. – 2:30 p.m.
Adults will be given a tour of the Ectodermal Dysplasias research laboratories within the Anschutz
Medical Campus at the University of Colorado (Research Complex 1 North (RC1-N), 8th floor);
Wednesday, July 22, 3 p.m. – 4 p.m.
Children
Children will be given a tour of the Ectodermal Dysplasias research laboratories within the Anschutz
Medical Campus at the University of Colorado (Research Complex 1 North (RC1-N), 8th floor);
Wednesday, July 22, 1:30 p.m. – 2:30 p.m.
Children will participate in hands on science activities.
Goltz Research will be taking place next door.
PEOPLE WHO CAN BE INTERVIEWED (Who do I contact for this information?)
DeAnn Huxman, mother of two affected sons, Grant, 6, and Tyler, 14, resident of Moundridge,
Kansas.
Stephanie Hsu, M.D., Ph.D., Assistant Professor in Endocrinology at the University of Colorado
School of Medicine.
Mary Fete, M.S.N., R.N., Executive Director of NFED.
Timothy J. Fete, M.D., M.P.H., Pediatrician, Children’s Miracle Network Distinguished Professor
and Chairman in the Department of Child Health, University of Missouri Health Care and member of
the NFED Scientific Advisory Council.
Kathleen Motil, M.D., PH.D., Research Scientist, USDA/ARS Children’s Nutrition Research Center
and Associate Professor of Pediatrics, Baylor College of Medicine.
Dr. Maranke Koster, Ph.D., University of Colorado School of Medicine, Anschutz Medical Campus
(Denver, CO) Families from 3 countries (Brazil, Canada, US) and 33 states will be participating in a
research conference at the Anschutz Medical Campus, University of Colorado on Wednesday, July 22nd. For
individuals suffering from an absence of skin due to an abnormal p63 gene, skin biopsies will be
conducted. The other research group, affected by Goltz syndrome, will undergo a series of growth testing,
including the measuring, recording, and analyzing of specific body dimensions.
Deann Huxman of Moundridge, Kansas, and her family travel from their home in Kansas to wherever
the Family Conference is every year. She and her husband, Chris, have four boys, two of whom are
2. affected by a type of ectodermal dysplasia called ectrodactyly-ectodermal dysplasia-clefting (EEC)
syndrome. Tyler, 14, and Grant, 8, have missing fingers and toes, cleft lip and palate, nonfunctioning tear
ducts, missing teeth, the inability to sweat and other issues.
"The NFED is our second family. Our boys have made great friends here who they meet every summer at
Conference," Huxman said. "This year, we also get to participate in an NFED research project on EEC
syndrome at the University of Colorado in Denver on Wednesday. We have already seen progress made
in various areas regarding ectodermal dysplasias and we understand the best way to make further
advances is through research. We are willing to do whatever we can to help advances be made. It was not
a difficult decision at all to participate."
Mary Fete, the NFED executive director explains, “Our role at NFED is to be a catalyst for research. By
coordinating the Research Conference and Family Conference, we are able to bring families and
researchers together. To assist with expenses, the NFED is paying for dinner and lodging of immediate
family members of participants. The families and researchers benefit greatly from our efforts.”
Of the 180+ types of ectodermal dysplasias, two will be analyzed at the research conference. (Name of
Doctors) are investigating Growth Arrest in Focal Dermal Hypoplasia. Individuals affected by Focal Dermal
Hypoplasia possess small, underdeveloped, or absent abnormalities in the skin, skeleton, eyes, and face.
Commonly known as Goltz syndrome, the researchers at the conference will investigate the nutritional,
gastrointestinal, and hormonal aspects that may cause short stature and (using?) underweight. They seek
to determine if growth hormone deficiency contributes to the growth problems associated with Goltz
syndrome. Experts from the University of Colorado Health School of Medicine, Baylor College of Medicine,
and the University of Missouri-Columbia School of Medicine will be conducting research.
Dr. Maranke Koster of University of Colorado School of Medicine is researching p63 related ectodermal
dysplasias. The p63 gene plays a key role in the development and maintenance of the skin. Using Induced
Pluripotent Stem Cells (iPSC), she will seek to create human skin models. Her goal is to gain a better
understanding of the disease mechanisms and to develop new therapeutic strategies aimed at treating
skin, and potentially skin appendage (for example, hair), abnormalities.
Other Event Held in Conjunction with the Research Conference:
Family Conference
Cheyenne Mountain Resort
July 23, 24, and 25, 2015
Time? Should I put each day separately?
Through educational sessions, affected individuals and their families will learn more about ectodermal
dysplasias overall as well as about their specific syndrome. In between the educational workshops,
activities have been planned to provide attending families with a chance to bond.
About the Ectodermal Dysplasias
The ectodermal dysplasias are genetic conditions that involve defects in the hair, teeth, nails and sweat
glands. Other parts of the body also may be affected. There are more than 180 different ectodermal
dysplasias which are recognized by the combination of physical features an affected person has and the
way they are inherited. Symptoms can range from mild to severe. Only in rare cases does ectodermal
dysplasia affect lifespan and very few types involve learning difficulties. The ectodermal dysplasias affect
men, women and children of all races and ethnic groups. According to the Birth Defects Encyclopedia as
few as one or as many as 7 in 10,000 babies are born affected by an ectodermal dysplasia.
3. About the National Foundation for Ectodermal Dysplasias (NFED)
The NFED is the leading resource in the world serving the ectodermal dysplasias community. The mission
of the NFED is to empower and connect people touched by ectodermal dysplasias through education,
support and research. Located in Fairview Heights, Ill., the Foundation is in contact with more than 6,900
families in more than 85 countries. Seventy-five cents of every dollar raised is spent on education, support
and research. The NFED is a private, tax-exempt, not-for-profit organization pursuant to section 501(c)(3)
of the Internal Revenue Code.
Press Contact
Jodi Edgar Reinhardt
Director of Marketing and Communications
National Foundation for Ectodermal Dysplasias
Office - 618-566-2020
Cell - 618-806-3384
Direct - 628-566-6875
Jodi@nfed.org www.nfed.org
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