Category Archives: Human Genetics

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Drosophila effectively models human genes responsible for genetic kidney diseases Science Daily "For the first time, we realized that the functions of essential kidney genes could be so similar from the flies to humans." A logical next step will be to generate more personalized in vivo models of genetic renal diseases bearing patient-specific ... and more »

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Drosophila effectively models human genes responsible for genetic kidney diseases - Science Daily

Scientists studying the role of a protein complex in the normal development of the mouse brain unexpectedly created a mouse model that replicates clinical symptoms of patients with complex neurological disorders such as hyperactivity, learning deficits and social behavior abnormalities. Careful study of this mouse model led to the discovery of the genetic cause of the human neurological condition of five patients who, until now, had not received a genetic diagnosis. The team, which includes researchers, from Baylor College of Medicine, Texas Childrens Hospital and other institutions, has published the results in Nature Genetics.

When we began this research, we were just curious about what the ATXN1-CIC complex normally does, said senior author Dr. Huda Zoghbi, professor of molecular and human genetics and of pediatrics - neurology and developmental neuroscience at Baylor and director of the Jan and Dan Duncan Neurological Research Institute at Texas Childrens Hospital.

The researchers knew that enhanced function of the ATXN1-CIC complex can lead to neurodegenerative conditions. In this work, to discern the role of the complex in the development of a normal brain, they explored the biological consequences of the opposite situation, the complex losing its function. Using genetic tools in the lab, the researchers selectively removed genes involved in the formation of the complex in distinct regions of the mouse brain; the forebrain, and the hypothalamus and amygdala.

We discovered that genetically removing the complex from forebrain cells resulted in learning and memory deficits and hyperactivity in the mice, said co-first author Dr. Qiumin Tan, postdoctoral fellow of molecular and human genetics in the Zoghbi lab. Interestingly, within the forebrain, only the upper layers of the cortex showed a reduction of thickness, while lower layers appeared intact.

The biggest surprise was how the fairly specific and relatively limited changes in the cortex caused dramatic hyperactivity in mice, said co-first author Dr. Hsiang-Chih Lu, who was a doctoral student in the Zoghbi lab during this study and is currently at Washington University.

When the researchers knocked out genes involved in the protein complex only in the hypothalamus and amygdala, they observed changes in the mice behavior that were different from those described above. In this case, the mice showed prominent deficits in their social interactions, Tan said. For instance, they interacted less with other mice, and spent less time interacting with unfamiliar mice. These behaviors resemble some of the behaviors observed in individuals with autism spectrum disorders.

In contrast to the marked changes in thickness observed in the cortex, the researchers did not observe any major alterations in the structure of hypothalamus and amygdala when they lacked the protein complex.

Intrigued by their findings in mice, the researchers decided to investigate whether similar genetic changes in humans would be associated with comparable behaviors.

If we hadnt seen these neurological problems in the mice, we would not have looked for the human parallel, Zoghbi said.

The human connection

To find individuals carrying mutations in the genes involved in the formation of the ATXN1-CIC complex, the researchers entered the candidate genes they had worked with in mice in GeneMatcher, a web-tool developed as part of the Baylor-Hopkins Center for Mendelian Genomics for rare disease researchers. Similar to online dating websites that match couples, GeneMatcher allows researchers to find others that are interested in the same genes they are working on.

Through GeneMatcher we found five individuals carrying a mutation in capicua, one of the genes linked to the ATXN1-CIC complex, Tan said. Taken together, the affected individuals present with a spectrum of behavioral disorders including attention deficit/hyperactivity disorder (ADHD), developmental delay and intellectual disabilities and some have autism and epileptic seizures.

These individuals did not have an explanation for their condition; they did not know it was a genetic disorder or what had caused it. This work has provided them with an answer; researchers can now better understand the biology of their hyperactivity and intellectual disability.

Hyperactivity is a relatively common problem in children, but its been hard to understand it biologically, Zoghbi said. I think our work has pointed out an area of the brain in which we can begin to investigate to understand what drives this behavior.

Some people have suggested that mouse models are not good enough to study human diseases. I think that the models are good, what is important is how we study them, Zoghbi said. In this case, careful study of the mouse models has shown us where to look in human patients to potentially find the biological underpinnings of complex behavioral disorders, such as ADHD and autism spectrum disorder.

This work has shown that the ATXN1-CIC complex is important for proper development and function of the brain and also uncovers its roles in human neurodevelopmental disorders, Lu said.

For a complete list of the authors and their affiliations, as well as the financial support for this project go here.

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Mouse study helps find causes of human behavioral disorders - Baylor College of Medicine News (press release)

A state Senate health committee late last week approved a bill to offer optional testing of Georgia newborns for Krabbe disease, a rare genetic disorder.

The form of Krabbe that strikes newborns is caused by a change, or mutation, in the gene carrying the blueprints for an enzyme called galactosylceramidase, which is crucial to wrapping protective insulation called myelin around nerves. Without it, the brain and nerves deteriorate.

The disease is rare, striking between 1 in 100,000 and 1 in 350,000 babies. Infants with Krabbe typically die before their second birthday.

House Bill 241, which cleared the Senate Health and Human Services Committee after a brief discussion, is named Coves Law, for 19-month-old Cove Ellis, a Georgia child recently diagnosed with Krabbe disease.

The bill now heads to the Senate Rules Committee. It already has passed the Georgia House.

Families of children afflicted with the disease and other advocates for patients have pushed for testing of newborns, saying it gives parents the ability to intervene in aggressive cases of the disease.

The optimal treatment, they say, is a stem-cell transplant on the afflicted infant fairly soon after birth. If a newborn isnt diagnosed soon after birth, a transplant wont work, doctors say.

The bill would allow Georgia parents to pay for a $3 to $5 screening test, Rep. Lee Hawkins (R-Gainesville) told the Senate panel Thursday. Passage of the legislation, he said, would allow the parent to make the decision on whether to test their baby, he said.

HB 241 requires the Department of Public Health to provide a referral system for parents who wish to have the test performed on their child.

Many doctors and geneticists, though, have doubts about the screening. One problem with the screening test, they say, is a high percentage of false positives.

While they are sympathetic to the parents cause, these experts say not all children survive the transplant. Those who do often face physical and developmental delays.

The treatment can cause other problems, too.

Everyone wants to do the right thing for kids, Dr. William Wilcox, a professor of human genetics at the Emory University School of Medicine, said recently. The testing, he said, is being pushed with the wrong information. Theyre doing real harm. When there is better testing and treatment, we will support screening for all babies.

New York launched a Krabbe screening program in 2006, and three other states Missouri, Kentucky and Ohio have also added Krabbe to their newborn testing panels.

Six other states Illinois, Louisiana, New Jersey, New Mexico, Pennsylvania and Tennessee have passed laws allowing screening, but have not yet implemented their programs. In some of those cases, state health departments have blocked screening for Krabbe, citing both the expense of the testing and the lack of clear benefit from the treatment.

After promising results were reported from stem-cell transplants, former Buffalo Bills quarterback Jim Kelly and his wife, Jill, persuaded lawmakers in New York state to start screening babies for Krabbe, which had afflicted their son, Hunter.

The Kellys run a foundation called Hunters Hope supporting families affected by Krabbe and lobbies for newborn screening.

The outcome for children who arent diagnosed in time for treatment versus those who are is tremendous. Ive met several children who have undergone treatment they go to school, theyre mobile, theyre able to communicate, and most importantly, they are living, Anna Grantham, a spokeswoman for Hunters Hope, said in a recent written statement to WebMD.

During his testimony on the bill, Hawkins said that Emory University is interested in doing the testing.

In a statement, Emory said it has the capability to do genetic testing for Krabbe disease. Regarding HB 241, the Emory Division of Medical Genetics has been working with the Georgia Department of Public Health regarding testing and counseling for this disease. These discussions are continuing as this bill moves through the legislative process.

Andy Miller is editor and CEO of Georgia Heath News, a nonprofit indpendent news orgnaization covering heath care issues in the state.

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Georgia lawmakers considering bill on testing newborns for rare genetic disorder - Online Athens

A Bill that would allow companies to require employees to undergo genetic testing and disclose the results to their employers, or risk having to make health insurance payments of thousands of dollars extra, was recently approved by the US House of Representatives Committee on Education and the Workforce, with all 22 Republicans supporting it and all 17 Democrats opposing.

Genetic tests can predict health risks. In the US, where companies cover significant parts of the health insurance of their employees they may, understandably, want to minimise these risks. In the past, however, decisions on whether or not to undergo genetic testing have been the voluntary choices of individuals. Both the Council of Europe and the US law (Genetic Information and Non-Discrimination Act, GINA)uphold this standpoint.

The European Society of Human Genetics (ESHG) defends the principle that employees should be employed on the basis of their skills and expertise, and not on their future health risks. This Bill has apparently been integrated into the activities related to the revision of the Affordable Care Act,otherwise known as Obama Care. Transparency is needed on the potential decision to discontinue the GINA. The genetic and health information of individuals needs protection, said Professor Martina Cornel, chair of the ESHG Public and Professional Policy Committee.

European Society of Human Genetics

Originally posted here:
The European Society of Human Genetics condemns move to ... - HealthCanal.com (press release) (blog)

March 14, 2017 by Graciela Gutierrez Credit: NIH

Scientists studying the role of a protein complex in the normal development of the mouse brain unexpectedly created a mouse model that replicates clinical symptoms of patients with complex neurological disorders such as hyperactivity, learning deficits and social behavior abnormalities. Careful study of this mouse model led to the discovery of the genetic cause of the human neurological condition of five patients who, until now, had not received a genetic diagnosis. The team, which includes researchers, from Baylor College of Medicine, Texas Children's Hospital and other institutions, has published the results in Nature Genetics.

"When we began this research, we were just curious about what the ATXN1-CIC complex normally does," said senior author Dr. Huda Zoghbi, professor of molecular and human genetics and of pediatrics - neurology and developmental neuroscience at Baylor and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital.

The researchers knew that enhanced function of the ATXN1-CIC complex can lead to neurodegenerative conditions. In this work, to discern the role of the complex in the development of a normal brain, they explored the biological consequences of the opposite situation, the complex losing its function. Using genetic tools in the lab, the researchers selectively removed genes involved in the formation of the complex in distinct regions of the mouse brain; the forebrain, and the hypothalamus and amygdala.

"We discovered that genetically removing the complex from forebrain cells resulted in learning and memory deficits and hyperactivity in the mice," said co-first author Dr. Qiumin Tan, postdoctoral fellow of molecular and human genetics in the Zoghbi lab. "Interestingly, within the forebrain, only the upper layers of the cortex showed a reduction of thickness, while lower layers appeared intact."

"The biggest surprise was how the fairly specific and relatively limited changes in the cortex caused dramatic hyperactivity in mice," said co-first author Dr. Hsiang-Chih Lu, who was a doctoral student in the Zoghbi lab during this study and is currently at Washington University.

When the researchers knocked out genes involved in the protein complex only in the hypothalamus and amygdala, they observed changes in the mice behavior that were different from those described above. "In this case, the mice showed prominent deficits in their social interactions," Tan said. "For instance, they interacted less with other mice, and spent less time interacting with unfamiliar mice. These behaviors resemble some of the behaviors observed in individuals with autism spectrum disorders."

In contrast to the marked changes in thickness observed in the cortex, the researchers did not observe any major alterations in the structure of hypothalamus and amygdala when they lacked the protein complex.

Intrigued by their findings in mice, the researchers decided to investigate whether similar genetic changes in humans would be associated with comparable behaviors.

"If we hadn't seen these neurological problems in the mice, we would not have looked for the human parallel," Zoghbi said.

The human connection

To find individuals carrying mutations in the genes involved in the formation of the ATXN1-CIC complex, the researchers entered the candidate genes they had worked with in mice in GeneMatcher, a web-tool developed as part of the Baylor-Hopkins Center for Mendelian Genomics for rare disease researchers. Similar to online dating websites that match couples, GeneMatcher allows researchers to find others that are interested in the same genes they are working on.

"Through GeneMatcher we found five individuals carrying a mutation in capicua, one of the genes linked to the ATXN1-CIC complex," Tan said. "Taken together, the affected individuals present with a spectrum of behavioral disorders including attention deficit/hyperactivity disorder (ADHD), developmental delay and intellectual disabilities and some have autism and epileptic seizures."

These individuals did not have an explanation for their condition; they did not know it was a genetic disorder or what had caused it. This work has provided them with an answer; researchers can now better understand the biology of their hyperactivity and intellectual disability.

"Hyperactivity is a relatively common problem in children, but it's been hard to understand it biologically," Zoghbi said. "I think our work has pointed out an area of the brain in which we can begin to investigate to understand what drives this behavior."

"Some people have suggested that mouse models are not good enough to study human diseases. I think that the models are good, what is important is how we study them," Zoghbi said. "In this case, careful study of the mouse models has shown us where to look in human patients to potentially find the biological underpinnings of complex behavioral disorders, such as ADHD and autism spectrum disorder."

"This work has shown that the ATXN1-CIC complex is important for proper development and function of the brain and also uncovers its roles in human neurodevelopmental disorders," Lu said.

Explore further: Mutations in CWC27 result in a spectrum of developmental conditions

More information: Hsiang-Chih Lu et al. Disruption of the ATXN1CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans, Nature Genetics (2017). DOI: 10.1038/ng.3808

An international team of researchers has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development. ...

An international team of scientists has identified variants of the gene EBF3 causing a developmental disorder with features in common with autism. Identification of these gene variants leads to a better understanding of these ...

Deep brain stimulation usually used to treat movement disorders overcomes the learning and memory deficits in mice whose symptoms mimic those of Rett syndrome, a neurological disease usually found in young girls, ...

Gene duplications are a common cause of intellectual disabilities and autism as well as various other neurological disorders. In a new study that appears online in the journal Nature, Dr. Huda Zoghbi, professor of molecular ...

A team of scientists at Baylor College of Medicine and Texas Children's Hospital has discovered that in three separate laboratory models, the protein TRIM28 can promote the accumulation of two key proteins that drive the ...

Reducing the function of the autism-associated gene Pcdh10 leads to impairments in social behavior, according to a study published in Biological Psychiatry. Reducing Pcdh10 function also disrupted the structure and function ...

Britain's Newcastle University says its scientists have received a license to create babies using DNA from three people to prevent women from passing on potentially fatal genetic diseases to their childrenthe first time ...

Columbia University Medical Center (CUMC) researchers have discovered a common genetic variant that greatly impacts normal brain aging, starting at around age 65, and may modify the risk for neurodegenerative diseases. The ...

Studies of autoimmune and inflammatory diseases have identified hundreds of genetic regions thought to be associated with these conditions. At the same time, studies of expression quantitative trait loci (eQTLs) have revealed ...

Scientists studying the role of a protein complex in the normal development of the mouse brain unexpectedly created a mouse model that replicates clinical symptoms of patients with complex neurological disorders such as hyperactivity, ...

Genetic variation in the non-coding DNA could give rise to language impairments in children and other neurodevelopmental disorders including schizophrenia, autism, and bipolar disorder, scientists from the Max Planck Institute ...

ABL1, a human gene well-known for its association with cancer now has been linked to a developmental disorder. The study, which was carried out by a team of researchers from institutions around the world, including Baylor ...

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ADHD can be cured by oral administration of 250mg of healthy adult male facial skin surface lipid pheromone. Airborne emissions from the collected skin surface lipid pheromone are behaviorally dangerous and measures need to be taken to diminish their effects on everyone: activated charcoal dunnage with sealed packaging, storage under hoods, oscillating fans, staff to use supplied air respirators, social isolation of the patient for 40 days (long enough for the pheromone to "wear off" one's saliva after being dosed).

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Mouse study helps find genetic causes of human behavioral disorders - Medical Xpress

Employers could impose hefty penalties on employees who decline to participate in genetic testing as part of workplace wellness programs if a bill approved by a U.S. House committee this week becomes law.

In general, employersdon't have that power under existing federal laws, which protect genetic privacy and nondiscrimination. But a bill passed Wednesday by theHouse Committee on Education and the Workforce would allow employers to get around thoseobstacles if the information is collected as part of a workplace wellness program.

Suchprograms which offer workers a variety ofcarrots and sticksto monitor and improve their health, such as lowering cholesterol have become increasingly popularwith companies.Some offer discounts on health insurance to employees who complete health-risk assessments. Others might charge people more for smoking.Under the Affordable Care Act, employers are allowed to discount health insurance premiums by up to 30 percent and in some cases 50 percent for employees who voluntarily participate in a wellness program where they're required to meet certain health targets.

[Obamacare revision clears two House committees as Trump, others tried to tamp down backlash]

The bill is under review by other House committees and still must be considered by the Senate. But it has already faced strong criticism from a broad array of groups, as well as House Democrats. In a letter sent to the committee earlier this week, nearly 70 organizations representing consumer, health and medical advocacy groups, including the American Academy of Pediatrics, AARP, March of Dimes and the National Women's Law Center said the legislation, if enacted, would undermine basic privacy provisions of the Americans With Disabilities Act and the 2008 Genetic Information Nondiscrimination Act(GINA).

Congress passed GINA to prohibit discrimination by health insurers and employers based on the information that people carry in their genes. There is an exception that allows for employees to provide that information as part of voluntary wellness programs. But the law states that employee participation must be entirely voluntary, with no incentives for providing the dataor penalties for not providing it.

But theHouse legislation would allow employers to impose penalties of up to 30 percent of the total cost of the employee's health insurance on those who choose to keep such information private.

[Rich Americans seem to have found a way to avoid paying a key Obamacare tax]

It's a terrible Hobson's choice between affordable health insurance and protecting one's genetic privacy, said Derek Scholes, director of science policy at the American Society of Human Genetics, which represents human genetics specialists. The organization sent aletter to the committee opposing the bill.

The average annual premium for employer-sponsored family health coverage in 2016 was $18,142, according to the Kaiser Family Foundation. Under the plan proposed in the bill, a wellness program could charge employees an extra $5,443 in annual premiums if they choose not to share their genetic and health information.

The bill, Preserving Employee Wellness Programs Act, HR 1313, was introduced by Rep. Virginia Foxx, (R-N.C.), who chairs the Committee on Education and the Workforce. A committee statement said the bill provides employers the legal certainty they need to offer employee wellness plans, helping to promote a healthy workforce and lower health care costs. It passed on a party-line vote, with all 22 Republicans supporting it and all 17 Democrats opposed.

The bills supporters in the business community have argued that competing regulations in federal laws make it too difficult for companies to offer these wellness programs. In congressional testimony this month, the American Benefits Council, which represents major employers, said the burdensome rules jeopardize wellness programs that improve employee health, can increase productivity and reduce health care spending.

A House committee spokeswoman told CNBC that those opposed to the bill are spreading false informationin a desperate attempt to deny employees the choice to participate in a voluntary program that can reduce health insurance costs and encourage healthy lifestyle choices.

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Employees who decline genetic testing could face penalties under proposed bill - Washington Post

House Democrats and a number of privacy advocacy groups came out against a House GOP-sponsored bill that would reportedly make it easier for employers to gain access to genetic information about their employees and their families.

The New York Times reported Friday that the bill-- called the Preserving Employee Wellness Programs Act-- may also significantly increase the costs if someone chooses not to participate in a company wellness program that requires the genetic information.

Fortune magazine summed up the bill: it would essentially allow companies with workplace wellness programs to demand your genetic information (or force you to pay a big penalty.)

The bill was introduced by Rep. Virginia Foxx, R-N.C., the chairwoman of the House Committee on Education and the Workforce. The bill reportedly passed its first test in a committee vote that went straight down party line. The bill is still under review by other House committees.

A spokeswoman for the House committee told The Times that "the legislation will reaffirm existing law and provide regulatory clarity so that employers can have the certainty they need to help lower health care costs for their employees.

There is debate on the effectiveness of workplace wellness programs in general.

"We urge the Committee not to move forward with consideration of this bill," Nancy J. Cox, PhD, the president of the American Society of Human Genetics, said in a statement. As longtime advocates of genetic privacy, we instead encourage the Committee to pursue ways to foster workplace wellness and employee health without infringing upon the civil rights afforded by ADA and GINA."

She said if enacted, the bill would "fundamentally undermine" the Genetic information Nondiscrimination Act and the Americans with Disabilities Act.

Edmund DeMarche is a news editor for FoxNews.com. Follow him on Twitter @EDeMarche.

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GOP-sponsored bill may help companies obtain your genetic information - Fox News

Popular Mechanics

For the first time ever, scientists have edited the genetic makeup of viable human embryos Quartz Our genetically edited future is nigh. Chinese researchers, who have been at the forefront of experimenting with human embryos using a technology called CRISPR, are improving on their results year after year. For the past three years, these researchers ... Chinese Scientists Genetically Modify Human EmbryosPopular Mechanics all 10 news articles »

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For the first time ever, scientists have edited the genetic makeup of viable human embryos - Quartz

March 10, 2017

An international team of researchers has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development. The results appear in the American Journal of Human Genetics.

"CWC27 is a new disease-associated gene," said co-senior author Dr. Rui Chen, associate professor of molecular and human genetics at Baylor College of Medicine.

One of the goals of the Chen lab is to identify genes involved with human retinal disease, such as retinitis pigmentosa, a condition characterized by progressive development of night blindness and tunnel vision, sometimes from the early age of 2. Retinitis pigmentosa is the most common inherited disorder of the retina; it affects nearly 1 in 4,000 people, and more than 1 million are visually impaired around the world due to this untreatable disease.

"In our search for genes linked to retinitis pigmentosa, we identified a patient with the condition more than two years ago," said co-first author Mingchu Xu, graduate student in molecular and human genetics in the Chen lab. "We identified a frameshift mutation in CWC27. The patient did not have other conditions in addition to the vision problems. To study the condition, we mimicked the human mutation in a mouse model, and at 6 months of age the mice showed retinal degeneration and no other conditions, just as we had observed in the human patient."

CWC27 is one of more than 100 genes that participate in the formation and function of the spliceosome, a molecular machine that is involved in the correct expression of the proteins that carry out the functions of all the cells in the body. Until now, most disease-associated genes of the spliceosome had been involved in two non-overlapping conditions. For instance, mutations in certain proteins of the spliceosome cause syndromes that involve mainly craniofacial and skeletal conditions, while mutations in other spliceosome genes result only in retinitis pigmentosa. CWC27 seemed to belong to the second group of genes.

Surprising results

"Interestingly, our collaborator Dr. Daniel Schorderet, director of the Institute for Research in Ophthalmology in Switzerland and co-senior author of the paper, was working with patients who have mutations in CWC27 and present with more severe clinical conditions than our patient, including craniofacial and skeletal problems in addition to problems with vision," Xu said.

"When we looked at the clinical characteristics of all the patients, we did not anticipate that they would have mutations in the same gene. Only when we looked at the genes did we realize that the spectrum of clinical characteristic in the patients was the result of various mutations in the same gene, CWC27," Chen said.

By applying exome sequencing to multiple families and modeling the disease in two mouse models the researchers were able to appreciate the spectrum of clinical conditions that mutations in the same gene can cause.

"This is the first time a mutation of a gene in the spliceosome has been described to result in an entire spectrum of clinical conditions," Xu said. "To explain why our patient presented only with vision problems, we hypothesized that the mutation in our patient's CWC27 was milder than those of other patients. By analyzing the results on mouse models and patient samples, we found that the mutant gene in our patient probably retains a residual function, while the genes in the patients of the other groups have a more severe loss of function."

"This study also shows the power of collaboration within the genetics community when looking for new disease-associated genes," Xu said. "Initially, we only identified one patient and then we collected more cases via two platforms, GeneMatcher and the European Retinal Disease Consortium. We would not have been able to present this interesting story without the contributions of researchers from nine countries. With exome sequencing accessible to more patients and researchers, these platforms will most likely speed up the process of finding the genetic causes of human diseases."

Explore further: Improving the view on the genetic causes of retinitis pigmentosa

More information: Mingchu Xu et al. Mutations in the Spliceosome ComponentCWC27Cause Retinal Degeneration with or without Additional Developmental Anomalies, The American Journal of Human Genetics (2017). DOI: 10.1016/j.ajhg.2017.02.008

Progressive development of night blindness and tunnel vision, sometimes from the early age of 2, are trademarks of retinitis pigmentosa. Being the most common inherited disorder of the retina, retinitis pigmentosa affects ...

An international team of scientists has identified variants of the gene EBF3 causing a developmental disorder with features in common with autism. Identification of these gene variants leads to a better understanding of these ...

Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex ...

Researchers at UCL Institute of Ophthalmology and Moorfields Eye Hospital with funding from Fight for Sight, in collaboration with a team from Baylor College of Medicine in the USA, have discovered a new retinitis pigmentosa ...

A neurodevelopmental disorder for which there was no known cause has been linked to SON, a gene that is involved in essential mechanisms a cell uses to translate DNA into protein, as well as in DNA replication and cell division. ...

Scientists have linked a gene called PKD1L1 with disarrangement of human internal organs, known as laterality defects, and complex congenital heart disease. This discovery contributes to a better understanding of the genetic ...

Recent study out of the University of Ottawa opens door for new disease therapies in cancer, ALS, Fragile X Syndrome and others.

An unusual case of a rare anemia is opening scientists up to a new way of thinking about how to adapt and employ cytokines, messenger molecules of the blood and immune system, as tools for treatmenttools that are more ...

Cells face a daunting task. They have to neatly pack a several meter-long thread of genetic material into a nucleus that measures only five micrometers across. This origami creates spatial interactions between genes and their ...

By the time they turn 50, half of European men have some degree of hair loss. For many, it will begin far earlier than that, and yet male pattern baldness is poorly understood.

A component of vertebrate neurons known as the axon initial segment (AIS) that is responsible for regulating the nerve cell's output has long been thought by scientists to have evolved relatively recently, and specifically ...

Researchers have uncovered new genetic clues to understanding IgA nephropathy (IgAN), or Berger's disease, an autoimmune kidney disease and a common cause of kidney failure. The findings are relevant to IgAN as well as other ...

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Mutations in CWC27 result in a spectrum of developmental conditions - Medical Xpress

Keeping a thick head of hair into your twilight years could be more difficult if you're short.

Researchers at the University of Bonn in Germany have linked hair loss in the human genome to height, skin colour and bone density.

We were able to identify 63 alterations in the human genome that increase the risk of premature hair loss," said Dr Stefanie Heilmann-Heimbach, the leader of the study.

"Some of these alterations were also found in connection with other characteristics and illnesses, such as reduced body size."

The data comes from analysing 11,000 men with premature balding and 12,000 that hadn't experienced any hair loss.

The genetic findings also confirm the link between hair loss and an increased risk of prostate cancer.

The link with heart disease is much more complicated. Genes that reduce the risk were found along with genes that increase the risk.

"We have also found links to light skin colour and increased bone density," explains Prof. Markus Nthen, Director of the Institute of Human Genetics at the University of Bonn.

"These could indicate that men with hair loss are better able to use sunlight to synthesise vitamin D. They could also explain why white men in particular lose their hair prematurely."

However, specifically which molecular mechanisms create the link between premature hair loss and other illnesses is only partly understood.

The team says it will be looking into more detail about it in the future. But they did state that losing your hair doesn't mean a fast-track to cancer.

"Men with premature hair loss do not need to be concerned," reassured Prof. Nthen.

"The risks of illness are only increased slightly. It is, however, exciting to see that hair loss is by no means an isolated characteristic, but instead displays various relationships with other characteristics."

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Short men are more likely to go BALD claim genetic scientists after exhaustive study - Mirror.co.uk